Variant report

Variant	nsv482650
Chromosome Location	chr1:144869935-145009137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3571)
CpG islands
(count:2503)
Chromatin interactive
region (count:221)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3571 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145007845-145011203	K562	blood:	n/a	n/a
2	ARID3A	chr1:144938243-144938360	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:144923974-144924494	HepG2	liver:	n/a	chr1:144924178-144924194
4	ARID3A	chr1:144918090-144918310	K562	blood:	n/a	n/a
5	ARID3A	chr1:145005457-145007401	K562	blood:	n/a	n/a
6	ARID3A	chr1:144938874-144939338	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:144921610-144922130	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:144988785-144990011	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:144991522-144993662	K562	blood:	n/a	n/a
10	ARID3A	chr1:144931414-144931602	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:145000157-145004850	K562	blood:	n/a	chr1:145001553-145001569 chr1:145004748-145004764
12	ARID3A	chr1:144931963-144932828	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:144989106-144991213	K562	blood:	n/a	n/a
14	ARID3A	chr1:144994237-144996744	K562	blood:	n/a	n/a
15	ARID3A	chr1:144997084-144999662	K562	blood:	n/a	n/a
16	ARID3A	chr1:144893871-144894101	K562	blood:	n/a	n/a
17	ARID3A	chr1:144937109-144937725	HepG2	liver:	n/a	n/a
18	ARID3A	chr1:144918079-144918361	HepG2	liver:	n/a	n/a
19	ARID3A	chr1:144887242-144887658	K562	blood:	n/a	n/a
20	ATF1	chr1:144893850-144893916	K562	blood:	n/a	n/a
21	ATF1	chr1:144991677-144992162	K562	blood:	n/a	n/a
22	ATF1	chr1:144997529-144998431	K562	blood:	n/a	n/a
23	ATF1	chr1:145001703-145004761	K562	blood:	n/a	n/a
24	ATF1	chr1:144994316-144996366	K562	blood:	n/a	n/a
25	ATF1	chr1:144998715-144999351	K562	blood:	n/a	n/a
26	ATF1	chr1:145008736-145009963	K562	blood:	n/a	n/a
27	ATF1	chr1:144988840-144990055	K562	blood:	n/a	n/a
28	ATF1	chr1:144918124-144918317	K562	blood:	n/a	n/a
29	ATF2	chr1:144908134-144908746	GM12878	blood:	n/a	n/a
30	ATF2	chr1:144931876-144932753	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr1:144931922-144932867	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr1:144908048-144908805	GM12878	blood:	n/a	n/a
33	ATF2	chr1:144931771-144932702	GM12878	blood:	n/a	n/a
34	ATF3	chr1:145003959-145004695	K562	blood:	n/a	n/a
35	ATF3	chr1:144997011-144998557	K562	blood:	n/a	n/a
36	ATF3	chr1:145009033-145010014	K562	blood:	n/a	n/a
37	BACH1	chr1:144994219-144994455	K562	blood:	n/a	n/a
38	BACH1	chr1:144887269-144887748	H1-hESC	embryonic stem cell:	n/a	chr1:144887457-144887471
39	BACH1	chr1:145008851-145011359	K562	blood:	n/a	n/a
40	BACH1	chr1:144887336-144887619	K562	blood:	n/a	chr1:144887457-144887471
41	BACH1	chr1:144931477-144932093	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr1:144994774-144995705	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr1:144994691-144996577	K562	blood:	n/a	n/a
44	BACH1	chr1:144997213-144999624	K562	blood:	n/a	n/a
45	BACH1	chr1:145000022-145002759	K562	blood:	n/a	n/a
46	BACH1	chr1:144991688-144992152	K562	blood:	n/a	n/a
47	BACH1	chr1:144924377-144924386	H1-hESC	embryonic stem cell:	n/a	n/a
48	BATF	chr1:144908200-144908921	GM12878	blood:	n/a	n/a
49	BATF	chr1:144965596-144965880	GM12878	blood:	n/a	chr1:144965602-144965610 chr1:144965715-144965724
50	BATF	chr1:144954925-144955119	GM12878	blood:	n/a	n/a

(count:2503 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144931476-144931526	Caco-2	colon:	n/a
2	chr1:144989624-144989674	AG09309	skin:	n/a
3	chr1:144931476-144931526	Caco-2	colon:	n/a
4	chr1:144989624-144989674	AG09309	skin:	n/a
5	chr1:144932476-144932526	BE2_C	brain:	n/a
6	chr1:144930572-144930622	AG09319	gingival:	n/a
7	chr1:144994542-144994592	HL-60	blood:	n/a
8	chr1:144887235-144887285	SAEC	small airway:	n/a
9	chr1:144994933-144994983	Hepatocyte	liver:	n/a
10	chr1:144952173-144952223	Caco-2	colon:	n/a
11	chr1:144935409-144935459	HRCEpiC	kidney:	n/a
12	chr1:144998869-144998919	HAEpiC	amniotic membrane:	n/a
13	chr1:144928806-144928856	ECC-1	luminal epithelium:	n/a
14	chr1:144932227-144932277	CMK	blood:	n/a
15	chr1:144930964-144931014	NH-A	brain:	n/a
16	chr1:144931379-144931429	BE2_C	brain:	n/a
17	chr1:144930572-144930622	SK-N-SH_RA	brain:	n/a
18	chr1:144994933-144994983	ovcar-3	ovarian:	n/a
19	chr1:144932207-144932257	HCF	heart:	n/a
20	chr1:144932136-144932186	RPTEC	kidney:	n/a
21	chr1:144932207-144932257	GM12878	blood:	n/a
22	chr1:144994542-144994592	SK-N-MC	brain:	n/a
23	chr1:144932227-144932277	AG09319	gingival:	n/a
24	chr1:144932207-144932257	SK-N-SH	brain:	n/a
25	chr1:145001340-145001390	SK-N-SH	brain:	n/a
26	chr1:145004468-145004518	NT2-D1	testis:	n/a
27	chr1:144931476-144931526	HMEC	breast:	n/a
28	chr1:144932476-144932526	GM12892	blood:	n/a
29	chr1:144989624-144989674	HAEpiC	amniotic membrane:	n/a
30	chr1:144931980-144932030	MCF-7	breast:	n/a
31	chr1:144887235-144887285	Hepatocyte	liver:	n/a
32	chr1:144998869-144998919	SK-N-SH_RA	brain:	n/a
33	chr1:144994658-144994708	GM12892	blood:	n/a
34	chr1:144995101-144995151	PrEC	prostate:	n/a
35	chr1:144989624-144989674	Caco-2	colon:	n/a
36	chr1:144932914-144932964	NHBE	bronchial:	n/a
37	chr1:144930964-144931014	HRE	kidney:	n/a
38	chr1:144995889-144995939	HNPCEpiC	eye:	n/a
39	chr1:144998869-144998919	HRE	kidney:	n/a
40	chr1:144892111-144892161	HRPEpiC	eye:	n/a
41	chr1:144995682-144995732	NH-A	brain:	n/a
42	chr1:144931980-144932030	ECC-1	luminal epithelium:	n/a
43	chr1:144926986-144927036	HCM	heart:	n/a
44	chr1:144932914-144932964	HCF	heart:	n/a
45	chr1:145004468-145004518	ECC-1	luminal epithelium:	n/a
46	chr1:144892111-144892161	ECC-1	luminal epithelium:	n/a
47	chr1:144935409-144935459	HAEpiC	amniotic membrane:	n/a
48	chr1:144994715-144994765	GM12892	blood:	n/a
49	chr1:144937317-144937367	NHBE	bronchial:	n/a
50	chr1:144931379-144931429	HL-60	blood:	n/a

(count:221 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr1:144935354..144938295-chr1:144938460..144940081,2	K562	blood:
2	chr1:17045982..17048017-chr1:144885102..144888081,2	K562	blood:
3	chr1:144930785..144934494-chr1:144995135..144999319,4	MCF-7	breast:
4	chr1:144873625..144876777-chr1:144880154..144883711,4	MCF-7	breast:
5	chr1:144932519..144933068-chr1:144989004..144989890,2	MCF-7	breast:
6	chr1:144941413..144943372-chr1:144947098..144949301,2	MCF-7	breast:
7	chr1:144913721..144916057-chr1:144919209..144920985,3	K562	blood:
8	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:
9	chr1:144532285..144535839-chr1:144994993..144998864,6	K562	blood:
10	chr1:144924927..144926596-chr1:145062250..145064152,2	MCF-7	breast:
11	chr1:145008157..145010957-chr1:145382547..145384620,2	K562	blood:
12	chr1:144993854..144995667-chr1:145381995..145384401,2	K562	blood:
13	chr1:145003631..145004191-chr1:145014605..145015136,2	K562	blood:
14	chr1:144931784..144933992-chr8:86374827..86377261,2	MCF-7	breast:
15	chr1:144993668..144997286-chr1:145038559..145041171,3	MCF-7	breast:
16	chr1:144923461..144926279-chr1:144929594..144932453,4	K562	blood:
17	chr1:144932649..144934258-chr15:98503922..98505541,2	MCF-7	breast:
18	chr1:144912685..144914252-chr1:144947438..144950034,2	K562	blood:
19	chr1:144932519..144933068-chr1:144989004..144989890,2	MCF-7	breast:
20	chr1:144919025..144921038-chr1:145058900..145061668,2	K562	blood:
21	chr1:144924964..144927595-chr1:145016965..145019616,2	MCF-7	breast:
22	chr1:144532979..144535627-chr1:145000792..145004183,3	K562	blood:
23	chr1:144929695..144933397-chr1:145381616..145384279,4	MCF-7	breast:
24	chr1:144709036..144711011-chr1:144986149..144988620,2	K562	blood:
25	chr1:144914245..144917269-chr1:144938650..144941626,3	K562	blood:
26	chr1:144995840..144996760-chr1:145055377..145055895,2	K562	blood:
27	chr1:144989590..144992114-chr1:145381606..145384500,2	MCF-7	breast:
28	chr1:144930770..144933506-chr20:52490207..52493077,2	MCF-7	breast:
29	chr1:144991187..144993112-chr1:145381407..145383113,2	MCF-7	breast:
30	chr1:144988890..144991160-chr1:145008732..145012540,3	MCF-7	breast:
31	chr1:144940268..144942523-chr1:144943310..144945549,2	MCF-7	breast:
32	chr1:144931832..144934351-chr1:145043528..145045220,3	K562	blood:
33	chr1:144931205..144934166-chr1:144942025..144944282,3	K562	blood:
34	chr1:144917532..144918295-chr20:53090253..53091159,2	MCF-7	breast:
35	chr1:145002712..145004491-chr1:145095156..145096973,2	MCF-7	breast:
36	chr1:144931684..144932440-chr1:144940811..144941415,2	MCF-7	breast:
37	chr1:144937739..144940161-chr1:145039312..145041037,2	K562	blood:
38	chr1:144930971..144932699-chr1:145382569..145384639,2	MCF-7	breast:
39	chr1:145003130..145005875-chr1:149855420..149857105,2	K562	blood:
40	chr1:144867331..144870453-chr1:144870555..144873293,3	MCF-7	breast:
41	chr1:144908156..144910754-chr1:144927017..144928830,2	MCF-7	breast:
42	chr1:144890884..144894068-chr1:146500995..146504405,3	K562	blood:
43	chr1:144943493..144945510-chr1:145439161..145441032,2	MCF-7	breast:
44	chr1:144906087..144908086-chr1:144911253..144912912,2	K562	blood:
45	chr1:17046027..17047625-chr1:144886603..144888109,2	MCF-7	breast:
46	chr1:144988088..144989012-chr1:145058100..145059991,5	MCF-7	breast:
47	chr1:144929958..144931521-chr17:48748229..48750387,2	MCF-7	breast:
48	chr1:144931123..144933767-chr1:145038053..145040746,4	MCF-7	breast:
49	chr1:144917990..144918581-chr1:145061611..145062219,2	MCF-7	breast:
50	chr1:145006816..145009107-chr1:145057701..145060152,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR3GL-8	chr1:144941080-144941374	NONHSAT005865
2	lnc-POLR3GL-8	chr1:144940612-144940760	NONHSAT005866
3	lnc-POLR3GL-8	chr1:144940123-144940515	NONHSAT005865
4	lnc-NBPF9-2	chr1:144877872-144878163	ENSG00000254913.1
5	lnc-NBPF9-2	chr1:144874945-144874987	ENSG00000254913.1
6	lnc-NBPF9-3	chr1:145004781-145005286	NONHSAT005869
7	lnc-NBPF9-2	chr1:144877226-144877296	ENSG00000254913.1
8	lnc-POLR3GL-8	chr1:144940359-144940515	NONHSAT005866
9	lnc-POLR3GL-8	chr1:144941080-144941367	NONHSAT005866
10	lnc-PPIAL4B-8	chr1:144870338-144870459	NONHSAT005850
11	lnc-POLR3GL-8	chr1:144941764-144941802	NONHSAT005865

No data

Variant related genes	Relation type
PDE4DIP	TF binding region
ENSG00000268172	TF binding region
ENSG00000266739	TF binding region
ENSG00000254913	TF binding region
RNU2-38P	TF binding region
PDE4DIP	CpG island
ENSG00000268172	CpG island
ENSG00000266739	CpG island
ENSG00000254913	CpG island
RNU2-38P	CpG island
ENSG00000104267	chromatin interactions
ENSG00000203843	chromatin interactions
ENSG00000159884	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000254913	chromatin interactions
ENSG00000223491	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000144355	chromatin interactions
ENSG00000272755	chromatin interactions
ENSG00000198517	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000235092	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000266739	chromatin interactions
ENSG00000222788	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000115738	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000160972	chromatin interactions
ENSG00000140450	chromatin interactions
ENSG00000108846	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000269900	chromatin interactions
ENSG00000180370	chromatin interactions
ENSG00000079335	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000255182	chromatin interactions
ENSG00000110375	chromatin interactions
ENSG00000268869	chromatin interactions
ENSG00000255148	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000253549	chromatin interactions
ENSG00000241721	chromatin interactions
ENSG00000261139	chromatin interactions
ENSG00000174827	chromatin interactions
ENSG00000186174	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000184260	chromatin interactions

Extended variants
information (count: 5633 )
Associated
traits (count: 171 )

Variant overlapped rSNPs/rCNVs (count:5633 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587621439	chr1:144869973-144869974	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587638168	chr1:144869992-144869993	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587711714	chr1:144870019-144870020	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587596494	chr1:144870113-144870114	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587665811	chr1:144870115-144870116	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587732696	chr1:144870127-144870128	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587608124	chr1:144870134-144870135	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587677352	chr1:144870146-144870147	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368848817	chr1:144870150-144870151	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587732878	chr1:144870153-144870154	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587625015	chr1:144870181-144870182	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs587688109	chr1:144870284-144870285	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587742331	chr1:144870286-144870287	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587624015	chr1:144870316-144870317	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs587697436	chr1:144870380-144870381	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs587770806	chr1:144870408-144870409	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs587644082	chr1:144870418-144870419	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs371532648	chr1:144870429-144870430	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs1698602	chr1:144870442-144870443	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs587704942	chr1:144870469-144870470	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs1699807	chr1:144870491-144870492	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs587773996	chr1:144870512-144870513	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs113963847	chr1:144870530-144870531	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs587632976	chr1:144870540-144870541	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs587717135	chr1:144870543-144870544	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs1699806	chr1:144870576-144870577	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs1699805	chr1:144870580-144870581	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs1698603	chr1:144870602-144870603	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs587722670	chr1:144870614-144870615	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs587601215	chr1:144870615-144870616	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs587679396	chr1:144870621-144870622	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs587712285	chr1:144870623-144870624	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs200667585	chr1:144870628-144870629	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs202018558	chr1:144870635-144870636	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs587612127	chr1:144870642-144870643	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs71582768	chr1:144870666-144870667	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs201950609	chr1:144870706-144870707	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs1698604	chr1:144870717-144870718	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs201685151	chr1:144870756-144870757	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs587661489	chr1:144870775-144870776	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs587747741	chr1:144870779-144870780	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs587616505	chr1:144870817-144870818	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs587690848	chr1:144870838-144870839	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs587747924	chr1:144870883-144870884	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs587646062	chr1:144870944-144870945	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs587703114	chr1:144870970-144870971	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs587758881	chr1:144871007-144871008	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs587615811	chr1:144871046-144871047	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs587691529	chr1:144871132-144871133	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375195990	chr1:144871136-144871137	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:171)

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
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	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
Breast cancer	22522925	CNVD
Autism	20858243	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:5935 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144843800-144880600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:144849800-144871600	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:144850000-144870400	Strong transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:144850000-144874000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:144850000-144875800	Strong transcription	Liver	Liver
6	chr1:144850000-144883200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr1:144850000-144883600	Strong transcription	Duodenum Mucosa	Duodenum
8	chr1:144850000-144883800	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr1:144850000-144885800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:144850000-144886200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:144850000-144886200	Strong transcription	Osteobl	bone
12	chr1:144850000-144886400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:144850000-144894000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr1:144850400-144883400	Strong transcription	Fetal Brain Female	brain
15	chr1:144850400-144886200	Strong transcription	HSMMtube	muscle
16	chr1:144850400-144886600	Strong transcription	Adipose Nuclei	Adipose
17	chr1:144850400-144894200	Strong transcription	Brain Germinal Matrix	brain
18	chr1:144851200-144884400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:144851600-144884000	Strong transcription	Placenta	Placenta
20	chr1:144852200-144913200	Weak transcription	Stomach Mucosa	stomach
21	chr1:144854200-144870200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:144854200-144886000	Weak transcription	Right Atrium	heart
23	chr1:144859800-144870400	Weak transcription	GM12878-XiMat	blood
24	chr1:144859800-144880600	Strong transcription	K562	blood
25	chr1:144860200-144874600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:144860200-144886600	Strong transcription	HSMM	muscle
27	chr1:144860200-144888400	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:144860400-144872800	Strong transcription	Brain Anterior Caudate	brain
29	chr1:144860400-144886000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:144860400-144886200	Strong transcription	Brain Substantia Nigra	brain
31	chr1:144860400-144887200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:144860800-144872800	Strong transcription	Brain Cingulate Gyrus	brain
33	chr1:144861200-144882000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:144861400-144872000	Strong transcription	Brain Angular Gyrus	brain
35	chr1:144861400-144872200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:144861400-144876200	Strong transcription	Left Ventricle	heart
37	chr1:144861400-144883200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:144861400-144884800	Strong transcription	NHDF-Ad	bronchial
39	chr1:144861400-144886800	Strong transcription	Brain Hippocampus Middle	brain
40	chr1:144861400-144887200	Strong transcription	Aorta	Aorta
41	chr1:144861800-144870200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:144861800-144870200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:144861800-144872800	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr1:144861800-144872800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:144861800-144883000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:144861800-144883000	Strong transcription	Primary T cells from cord blood	blood
47	chr1:144861800-144883200	Strong transcription	Fetal Stomach	stomach
48	chr1:144861800-144883200	Strong transcription	Right Ventricle	heart
49	chr1:144861800-144883400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:144861800-144884600	Strong transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links