Variant report

Variant	nsv1002736
Chromosome Location	chr1:145023783-145372551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7973)
CpG islands
(count:4153)
Chromatin interactive
region (count:300)
LncRNA
region (count:29)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7973 , 50 per page) page: 1 2 3 4 5 6 7 ... 160

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145208951-145209121	K562	blood:	n/a	chr1:145209007-145209015
2	ARID3A	chr1:145023275-145025964	K562	blood:	n/a	n/a
3	ARID3A	chr1:145089768-145090509	K562	blood:	n/a	n/a
4	ARID3A	chr1:145061354-145062417	K562	blood:	n/a	n/a
5	ARID3A	chr1:145039806-145040082	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:145098092-145098776	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:145040051-145040226	K562	blood:	n/a	n/a
8	ARID3A	chr1:145293424-145293644	K562	blood:	n/a	n/a
9	ARID3A	chr1:145058588-145061058	K562	blood:	n/a	n/a
10	ARID3A	chr1:145040639-145043538	K562	blood:	n/a	n/a
11	ARID3A	chr1:145208929-145209290	HepG2	liver:	n/a	chr1:145209007-145209015
12	ARID3A	chr1:145091964-145092746	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:145289928-145289938	K562	blood:	n/a	n/a
14	ARID3A	chr1:145096149-145096769	HepG2	liver:	n/a	n/a
15	ARID3A	chr1:145254404-145254507	K562	blood:	n/a	n/a
16	ARID3A	chr1:145054062-145056297	K562	blood:	n/a	chr1:145054435-145054451 chr1:145054273-145054289 chr1:145054272-145054288 chr1:145054436-145054452
17	ARID3A	chr1:145083440-145084471	K562	blood:	n/a	n/a
18	ARID3A	chr1:145027372-145031947	K562	blood:	n/a	n/a
19	ARID3A	chr1:145246167-145246562	HepG2	liver:	n/a	n/a
20	ARID3A	chr1:145253698-145253898	K562	blood:	n/a	n/a
21	ATF1	chr1:145080812-145081067	K562	blood:	n/a	n/a
22	ATF1	chr1:145208937-145209133	K562	blood:	n/a	n/a
23	ATF1	chr1:145195978-145196042	K562	blood:	n/a	n/a
24	ATF1	chr1:145074748-145075398	K562	blood:	n/a	n/a
25	ATF1	chr1:145029752-145031659	K562	blood:	n/a	n/a
26	ATF1	chr1:145070839-145072121	K562	blood:	n/a	n/a
27	ATF1	chr1:145078844-145078995	K562	blood:	n/a	n/a
28	ATF1	chr1:145090189-145090575	K562	blood:	n/a	n/a
29	ATF1	chr1:145054709-145055914	K562	blood:	n/a	n/a
30	ATF1	chr1:145042745-145043636	K562	blood:	n/a	n/a
31	ATF1	chr1:145292274-145292564	K562	blood:	n/a	n/a
32	ATF1	chr1:145082093-145082887	K562	blood:	n/a	n/a
33	ATF1	chr1:145032820-145034366	K562	blood:	n/a	n/a
34	ATF1	chr1:145112421-145113298	K562	blood:	n/a	n/a
35	ATF1	chr1:145073353-145074236	K562	blood:	n/a	n/a
36	ATF1	chr1:145069602-145070170	K562	blood:	n/a	n/a
37	ATF1	chr1:145109420-145111084	K562	blood:	n/a	n/a
38	ATF1	chr1:145111322-145111864	K562	blood:	n/a	n/a
39	ATF1	chr1:145037166-145037364	K562	blood:	n/a	n/a
40	ATF1	chr1:145023255-145025928	K562	blood:	n/a	n/a
41	ATF1	chr1:145098857-145100009	K562	blood:	n/a	n/a
42	ATF1	chr1:145108235-145108438	K562	blood:	n/a	n/a
43	ATF1	chr1:145058458-145062743	K562	blood:	n/a	n/a
44	ATF1	chr1:145113871-145114613	K562	blood:	n/a	n/a
45	ATF1	chr1:145077527-145078634	K562	blood:	n/a	n/a
46	ATF1	chr1:145293304-145293510	K562	blood:	n/a	n/a
47	ATF1	chr1:145216140-145216326	K562	blood:	n/a	n/a
48	ATF1	chr1:145068286-145068723	K562	blood:	n/a	n/a
49	ATF1	chr1:145027502-145029034	K562	blood:	n/a	n/a
50	ATF1	chr1:145107917-145107980	K562	blood:	n/a	n/a

(count:4153 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145110972-145111022	H1-hESC	embryonic stem cell:	embryo
2	chr1:145072507-145072557	AG09319	gingival:	n/a
3	chr1:145040886-145040936	MCF10A-Er-Src	breast:	n/a
4	chr1:145116797-145116847	BJ	skin:	n/a
5	chr1:145075831-145075881	Caco-2	colon:	n/a
6	chr1:145110972-145111022	H1-hESC	embryonic stem cell:	embryo
7	chr1:145072507-145072557	AG09319	gingival:	n/a
8	chr1:145040886-145040936	MCF10A-Er-Src	breast:	n/a
9	chr1:145116797-145116847	BJ	skin:	n/a
10	chr1:145075831-145075881	Caco-2	colon:	n/a
11	chr1:145076239-145076289	GM12878	blood:	n/a
12	chr1:145095965-145096015	NB4	blood:	n/a
13	chr1:145054779-145054829	NB4	blood:	n/a
14	chr1:145039741-145039791	GM06990	blood:	n/a
15	chr1:145209930-145209980	HRPEpiC	eye:	n/a
16	chr1:145115872-145115922	AG09319	gingival:	n/a
17	chr1:145209236-145209286	PrEC	prostate:	n/a
18	chr1:145209236-145209286	PANC-1	pancreas:	n/a
19	chr1:145095965-145096015	PrEC	prostate:	n/a
20	chr1:145077772-145077822	Hepatocyte	liver:	n/a
21	chr1:145079447-145079497	Jurkat	blood:	n/a
22	chr1:145042811-145042861	Caco-2	colon:	n/a
23	chr1:145039893-145039943	HNPCEpiC	eye:	n/a
24	chr1:145209236-145209286	GM06990	blood:	n/a
25	chr1:145089017-145089067	AG10803	skin:	n/a
26	chr1:145075349-145075399	BE2_C	brain:	n/a
27	chr1:145205174-145205224	GM12878	blood:	n/a
28	chr1:145207943-145207993	SK-N-MC	brain:	n/a
29	chr1:145092576-145092626	AG09309	skin:	n/a
30	chr1:145076239-145076289	H1-hESC	embryonic stem cell:	embryo
31	chr1:145211389-145211439	AG04449	skin:	fetal
32	chr1:145209236-145209286	HepG2	liver:	n/a
33	chr1:145092330-145092380	HMEC	breast:	n/a
34	chr1:145042811-145042861	LNCaP	prostate:	n/a
35	chr1:145097220-145097270	Hela-S3	cervix:	n/a
36	chr1:145104707-145104757	MCF10A-Er-Src	breast:	n/a
37	chr1:145054067-145054117	ovcar-3	ovarian:	n/a
38	chr1:145096236-145096286	LNCaP	prostate:	n/a
39	chr1:145139908-145139958	HNPCEpiC	eye:	n/a
40	chr1:145205174-145205224	HEK293	kidney:	embryo
41	chr1:145089017-145089067	HMEC	breast:	n/a
42	chr1:145210014-145210064	AG04449	skin:	fetal
43	chr1:145039893-145039943	AG09319	gingival:	n/a
44	chr1:145104707-145104757	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:145104707-145104757	ECC-1	luminal epithelium:	n/a
46	chr1:145039929-145039979	AG09319	gingival:	n/a
47	chr1:145096236-145096286	MCF10A-Er-Src	breast:	n/a
48	chr1:145100564-145100614	HCT-116	colon:	n/a
49	chr1:145039929-145039979	HCF	heart:	n/a
50	chr1:145139063-145139113	A549	lung:	n/a

(count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr1:144929480..144934765-chr1:145057603..145063573,9	MCF-7	breast:
2	chr1:120611803..120612535-chr1:145208972..145209627,6	MCF-7	breast:
3	chr1:144993800..144995715-chr1:145096861..145099755,2	K562	blood:
4	chr1:145061540..145065119-chr1:145065155..145068193,4	MCF-7	breast:
5	chr1:145070529..145074002-chr1:145081962..145084484,3	K562	blood:
6	chr1:144533808..144536803-chr1:145107932..145113896,6	K562	blood:
7	chr1:145039315..145039972-chr1:145058647..145059568,3	MCF-7	breast:
8	chr1:145069991..145072792-chr1:145078438..145080718,2	K562	blood:
9	chr1:145074665..145076679-chr1:145080108..145082967,2	MCF-7	breast:
10	chr1:145013891..145015151-chr1:145058685..145059554,6	K562	blood:
11	chr1:145291510..145293949-chr1:149222418..149224230,2	K562	blood:
12	chr1:145082537..145085433-chr1:145102296..145104665,3	MCF-7	breast:
13	chr1:145070476..145072647-chr1:145097716..145099798,2	K562	blood:
14	chr1:145009850..145011713-chr1:145053445..145055856,2	K562	blood:
15	chr1:145000528..145004410-chr1:145059527..145062479,4	K562	blood:
16	chr1:145032534..145035056-chr1:145096212..145098296,2	MCF-7	breast:
17	chr1:145134469..145136133-chr1:145381459..145383025,2	MCF-7	breast:
18	chr1:145054217..145054913-chr1:145103284..145104051,2	K562	blood:
19	chr1:144924927..144926596-chr1:145062250..145064152,2	MCF-7	breast:
20	chr1:145037873..145040572-chr1:145057317..145058926,2	K562	blood:
21	chr1:145012804..145013720-chr1:145058918..145059629,3	MCF-7	breast:
22	chr1:145035558..145037358-chr1:145055855..145058557,2	K562	blood:
23	chr1:144991810..144992601-chr1:145058676..145059206,2	K562	blood:
24	chr1:145065982..145068200-chr1:145088629..145091493,2	K562	blood:
25	chr1:145041147..145043858-chr1:145090158..145092282,3	K562	blood:
26	chr1:144994133..144995762-chr1:145061591..145063650,2	K562	blood:
27	chr1:145068951..145071595-chr1:145074959..145076825,3	MCF-7	breast:
28	chr1:144989112..144989905-chr1:145061477..145061994,2	MCF-7	breast:
29	chr1:145054096..145056410-chr1:147805245..147807903,2	K562	blood:
30	chr1:145209931..145210445-chr19:58874333..58874839,2	Hela-S3	cervix:
31	chr1:145287740..145289244-chr18:67226861..67228381,2	MCF-7	breast:
32	chr1:145038465..145040335-chr1:145073529..145077328,4	MCF-7	breast:
33	chr1:144532305..144535709-chr1:145057307..145060954,4	K562	blood:
34	chr1:144534936..144535880-chr1:145058706..145059612,4	MCF-7	breast:
35	chr1:145035558..145037358-chr1:145055855..145058557,2	K562	blood:
36	chr1:145036066..145038617-chr1:145038733..145041221,3	MCF-7	breast:
37	chr1:144991605..144996644-chr1:145057606..145061569,4	K562	blood:
38	chr1:120606120..120607638-chr1:145207438..145208952,2	MCF-7	breast:
39	chr1:145045315..145047510-chr1:145064968..145067113,2	K562	blood:
40	chr1:145021531..145024475-chr1:145100250..145102590,2	K562	blood:
41	chr1:145113190..145114713-chr1:145381480..145384448,2	MCF-7	breast:
42	chr1:144930866..144933492-chr1:145054484..145057318,3	MCF-7	breast:
43	chr1:145124431..145127072-chr1:145381606..145383214,2	K562	blood:
44	chr1:144930933..144933900-chr1:145065814..145068964,3	MCF-7	breast:
45	chr1:145018409..145019163-chr1:145060589..145061400,2	MCF-7	breast:
46	chr1:145137959..145140660-chr1:145381811..145384748,2	K562	blood:
47	chr1:145288943..145293306-chr1:149221737..149224658,6	MCF-7	breast:
48	chr1:144888141..144890870-chr1:145070504..145072082,2	K562	blood:
49	chr1:144989452..144990455-chr1:145058719..145059632,6	K562	blood:
50	chr1:145138455..145140955-chr1:145381729..145384293,2	MCF-7	breast:

(count:29 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2NL-2	chr1:145291855-145291972	NONHSAT005883
2	lnc-NOTCH2NL-2	chr1:145303910-145303982	NR_104217
3	lnc-NOTCH2NL-2	chr1:145302649-145302868	NR_104217
4	lnc-NBPF10-1	chr1:145213108-145213374	expReg_chr1_15650_+
5	lnc-POLR3GL-6	chr1:145039590-145039851	NONHSAT005872
6	lnc-NOTCH2NL-2	chr1:145368441-145369446	NR_104217
7	lnc-NOTCH2NL-2	chr1:145289770-145289906	NR_104217
8	lnc-NOTCH2NL-2	chr1:145290429-145290511	NR_104217
9	lnc-NOTCH2NL-2	chr1:145290781-145290850	NONHSAT005883
10	lnc-NOTCH2NL-3	chr1:145112627-145113408	ucscGeneNc_uc001epf_1
11	lnc-NOTCH2NL-2	chr1:145316512-145316684	NR_104217
12	lnc-NOTCH2NL-2	chr1:145317406-145317457	NR_104217
13	lnc-NOTCH2NL-2	chr1:145311103-145311154	NR_104217
14	lnc-NOTCH2NL-2	chr1:145309900-145310063	NR_104217
15	lnc-NOTCH2NL-2	chr1:145301720-145301817	NR_104217
16	lnc-POLR3GL-1	chr1:145372088-145373798	NONHSAT005886
17	lnc-NOTCH2NL-2	chr1:145319624-145319796	NR_104217
18	lnc-PDE4DIP-6	chr1:145200338-145200891	ENSG00000272709.1
19	lnc-NOTCH2NL-2	chr1:145293371-145293580	NR_104217
20	lnc-NOTCH2NL-2	chr1:145290422-145290511	NONHSAT005883
21	lnc-NOTCH2NL-2	chr1:145304447-145304652	NR_104217
22	lnc-NOTCH2NL-2	chr1:145320511-145320619	NR_104217
23	lnc-NOTCH2NL-2	chr1:145318054-145318226	NR_104217
24	lnc-NOTCH2NL-2	chr1:145318936-145318987	NR_104217
25	lnc-NOTCH2NL-4	chr1:145044651-145044900	NONHSAT005873
26	lnc-NOTCH2NL-2	chr1:145305945-145305996	NR_104217
27	lnc-NOTCH2NL-3	chr1:145110974-145111762	ucscGeneNc_uc001epf_1
28	lnc-NOTCH2NL-2	chr1:145369718-145370303	NR_104217
29	lnc-PDE4DIP-5	chr1:145088039-145088567	NONHSAT005874

No data

Variant related genes	Relation type
RN7SKP88	TF binding region
ENSG00000272709	TF binding region
PDE4DIP	TF binding region
ENSG00000271546	TF binding region
NUDT4P1	TF binding region
SEC22B	TF binding region
NOTCH2NL	TF binding region
ENSG00000255168	TF binding region
NBPF10	TF binding region
RNU6-1071P	TF binding region
RN7SKP88	CpG island
ENSG00000272709	CpG island
PDE4DIP	CpG island
ENSG00000271546	CpG island
NUDT4P1	CpG island
SEC22B	CpG island
NOTCH2NL	CpG island
ENSG00000255168	CpG island
NBPF10	CpG island
RNU6-1071P	CpG island
ENSG00000233396	chromatin interactions
ENSG00000134250	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000239335	chromatin interactions
ENSG00000225362	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000252211	chromatin interactions
ENSG00000120137	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000248643	chromatin interactions
ENSG00000171735	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000237436	chromatin interactions
ENSG00000169129	chromatin interactions
ENSG00000271546	chromatin interactions
ENSG00000162377	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000213240	chromatin interactions
ENSG00000273131	chromatin interactions
ENSG00000158417	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000139233	chromatin interactions
ENSG00000115919	chromatin interactions
ENSG00000226446	chromatin interactions
ENSG00000255168	chromatin interactions
ENSG00000163386	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000239306	chromatin interactions
ENSG00000167904	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000137574	chromatin interactions
ENSG00000115514	chromatin interactions
SMAD7	miRNA target sites
NSMAF	miRNA target sites

Extended variants
information (count: 11322 )
Associated
traits (count: 184 )

Variant overlapped rSNPs/rCNVs (count:11322 , 50 per page) page: 1 2 3 4 5 6 7 ... 227

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1663914	chr1:145023868-145023869	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531944	chr1:145023918-145023919	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587652357	chr1:145023935-145023936	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374518301	chr1:145023938-145023939	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1663913	chr1:145024033-145024034	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1663912	chr1:145024034-145024035	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587745895	chr1:145024049-145024050	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1663911	chr1:145024056-145024057	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587619184	chr1:145024092-145024093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1778688	chr1:145024093-145024094	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371807756	chr1:145024095-145024096	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6656237	chr1:145024108-145024109	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs10910699	chr1:145024126-145024127	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587712931	chr1:145024129-145024130	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs587593667	chr1:145024204-145024205	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587670176	chr1:145024211-145024212	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60367072	chr1:145024212-145024213	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10910700	chr1:145024213-145024214	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs587663121	chr1:145024252-145024253	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148749426	chr1:145024257-145024258	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142300575	chr1:145024258-145024259	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147878723	chr1:145024259-145024260	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs628907	chr1:145024263-145024264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587742709	chr1:145024317-145024318	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111604283	chr1:145024329-145024330	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs587617878	chr1:145024430-145024431	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs587691331	chr1:145024436-145024437	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1663910	chr1:145024461-145024462	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12068967	chr1:145024464-145024465	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs3905262	chr1:145024465-145024466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs587622975	chr1:145024470-145024471	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs367696938	chr1:145024489-145024490	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs56394111	chr1:145024534-145024535	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs587709410	chr1:145024539-145024540	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6666499	chr1:145024580-145024581	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373749221	chr1:145024581-145024582	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201107763	chr1:145024588-145024589	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573178060	chr1:145024590-145024591	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6424318	chr1:145024596-145024597	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1578870	chr1:145024606-145024607	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs56407211	chr1:145024612-145024613	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs67430603	chr1:145024613-145024614	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs56720070	chr1:145024622-145024623	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs587775375	chr1:145024650-145024651	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs587666093	chr1:145024693-145024694	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs57620935	chr1:145024696-145024697	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs3916439	chr1:145024721-145024722	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs616390	chr1:145024726-145024727	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1778686	chr1:145024738-145024739	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2477097	chr1:145024773-145024774	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:184)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Autism	22543975	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Autism	22102821	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10670 , 50 per page) page: 1 2 3 4 5 6 7 ... 214

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145002800-145024200	Weak transcription	Gastric	stomach
2	chr1:145015400-145030000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:145016800-145024000	Weak transcription	NH-A	brain
4	chr1:145016800-145032600	Weak transcription	Liver	Liver
5	chr1:145016800-145032800	Weak transcription	Spleen	Spleen
6	chr1:145020600-145028000	Enhancers	Brain Hippocampus Middle	brain
7	chr1:145021000-145024000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:145021000-145027800	Enhancers	Brain Angular Gyrus	brain
9	chr1:145021200-145024400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:145021200-145024600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:145021200-145026000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:145021200-145026800	Enhancers	Psoas Muscle	Psoas
13	chr1:145021400-145024600	Enhancers	Left Ventricle	heart
14	chr1:145021600-145024400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:145021800-145023800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:145021800-145023800	Genic enhancers	HSMMtube	muscle
17	chr1:145021800-145024600	Genic enhancers	Aorta	Aorta
18	chr1:145022000-145024000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:145022000-145024600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:145022000-145024600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:145022000-145024600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:145022000-145024600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:145022000-145024600	Enhancers	Right Ventricle	heart
24	chr1:145022000-145025600	Enhancers	Fetal Brain Female	brain
25	chr1:145022200-145023800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:145022200-145024400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:145022200-145024400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:145022200-145024600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:145022400-145023800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:145022400-145024200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:145022400-145024400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:145022400-145024600	Enhancers	Right Atrium	heart
33	chr1:145022600-145024400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:145022600-145025800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:145022800-145024200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr1:145022800-145026000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:145023000-145023800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:145023000-145024000	Enhancers	Fetal Stomach	stomach
39	chr1:145023000-145024000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr1:145023000-145024600	Enhancers	Fetal Muscle Leg	muscle
41	chr1:145023000-145024800	Enhancers	Fetal Brain Male	brain
42	chr1:145023000-145026000	Genic enhancers	HSMM	muscle
43	chr1:145023200-145023800	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:145023200-145023800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr1:145023200-145023800	Genic enhancers	Osteobl	bone
46	chr1:145023200-145024000	Enhancers	Placenta	Placenta
47	chr1:145023200-145024000	Strong transcription	NHLF	lung
48	chr1:145023200-145024200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:145023200-145024400	Genic enhancers	Muscle Satellite Cultured Cells	--
50	chr1:145023200-145024600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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