Variant report

Variant	esv3424986
Chromosome Location	chr21:45118675-45158421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2661)
CpG islands
(count:1647)
Chromatin interactive
region (count:106)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2661 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45139049-45139374	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:45148603-45148839	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:45122682-45123233	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:45148259-45148806	K562	blood:	n/a	n/a
5	ATF1	chr21:45148262-45148872	K562	blood:	n/a	n/a
6	ATF1	chr21:45138761-45139394	K562	blood:	n/a	n/a
7	ATF1	chr21:45118409-45118766	K562	blood:	n/a	n/a
8	ATF2	chr21:45136426-45137111	GM12878	blood:	n/a	n/a
9	ATF2	chr21:45136479-45137042	GM12878	blood:	n/a	n/a
10	ATF2	chr21:45148518-45148902	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr21:45138605-45139005	GM12878	blood:	n/a	n/a
12	ATF2	chr21:45148520-45148802	GM12878	blood:	n/a	n/a
13	ATF2	chr21:45148457-45148916	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr21:45148223-45148920	GM12878	blood:	n/a	n/a
15	ATF2	chr21:45139110-45139649	GM12878	blood:	n/a	chr21:45139288-45139295
16	ATF2	chr21:45148245-45148490	GM12878	blood:	n/a	n/a
17	ATF3	chr21:45148027-45148828	K562	blood:	n/a	chr21:45148190-45148199
18	ATF3	chr21:45132027-45132855	A549	lung:	n/a	n/a
19	ATF3	chr21:45138711-45139487	K562	blood:	n/a	chr21:45138915-45138924
20	ATF3	chr21:45131986-45132677	A549	lung:	n/a	n/a
21	ATF3	chr21:45148175-45148679	A549	lung:	n/a	chr21:45148190-45148199
22	ATF3	chr21:45148013-45148760	K562	blood:	n/a	chr21:45148190-45148199
23	BACH1	chr21:45138412-45140005	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr21:45149047-45149169	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr21:45148326-45148831	K562	blood:	n/a	n/a
26	BACH1	chr21:45138660-45138850	K562	blood:	n/a	n/a
27	BACH1	chr21:45148278-45148817	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr21:45140213-45140388	H1-hESC	embryonic stem cell:	n/a	n/a
29	BATF	chr21:45148256-45148467	GM12878	blood:	n/a	chr21:45148407-45148417
30	BATF	chr21:45136466-45136752	GM12878	blood:	n/a	n/a
31	BATF	chr21:45144425-45144740	GM12878	blood:	n/a	n/a
32	BATF	chr21:45148259-45148908	GM12878	blood:	n/a	chr21:45148407-45148417
33	BATF	chr21:45144456-45144652	GM12878	blood:	n/a	n/a
34	BATF	chr21:45136430-45137005	GM12878	blood:	n/a	n/a
35	BCL11A	chr21:45136451-45137114	GM12878	blood:	n/a	n/a
36	BCL11A	chr21:45136467-45137067	GM12878	blood:	n/a	n/a
37	BCL11A	chr21:45148279-45148902	GM12878	blood:	n/a	chr21:45148448-45148461
38	BCL3	chr21:45148135-45148842	A549	lung:	n/a	chr21:45148448-45148461
39	BCL3	chr21:45131919-45132858	A549	lung:	n/a	n/a
40	BCL3	chr21:45148149-45148722	A549	lung:	n/a	chr21:45148448-45148461
41	BCL3	chr21:45136468-45137024	GM12878	blood:	n/a	n/a
42	BCL3	chr21:45132012-45132821	A549	lung:	n/a	n/a
43	BCL3	chr21:45148120-45148907	K562	blood:	n/a	chr21:45148448-45148461
44	BCLAF1	chr21:45136424-45137013	GM12878	blood:	n/a	n/a
45	BCLAF1	chr21:45148184-45148920	K562	blood:	n/a	chr21:45148448-45148461
46	BCLAF1	chr21:45148158-45148944	K562	blood:	n/a	chr21:45148448-45148461
47	BCLAF1	chr21:45148262-45148905	GM12878	blood:	n/a	chr21:45148448-45148461
48	BCLAF1	chr21:45148295-45149208	GM12878	blood:	n/a	chr21:45148987-45148996 chr21:45148979-45148992 chr21:45148448-45148461 chr21:45148948-45148961
49	BHLHE40	chr21:45148370-45148671	HepG2	liver:	n/a	n/a
50	BHLHE40	chr21:45136508-45137042	GM12878	blood:	n/a	n/a

(count:1647 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45148879-45148929	GM12892	blood:	n/a
2	chr21:45143399-45143449	NHBE	bronchial:	n/a
3	chr21:45143399-45143449	AG10803	skin:	n/a
4	chr21:45147292-45147342	Caco-2	colon:	n/a
5	chr21:45153009-45153059	GM12892	blood:	n/a
6	chr21:45144343-45144393	HCM	heart:	n/a
7	chr21:45139816-45139866	BE2_C	brain:	n/a
8	chr21:45138838-45138888	NHBE	bronchial:	n/a
9	chr21:45149398-45149448	BJ	skin:	n/a
10	chr21:45138294-45138344	HAEpiC	amniotic membrane:	n/a
11	chr21:45149141-45149191	PANC-1	pancreas:	n/a
12	chr21:45139805-45139855	HCM	heart:	n/a
13	chr21:45139816-45139866	U87	brain:	n/a
14	chr21:45149141-45149191	SKMC	muscle:	n/a
15	chr21:45148460-45148510	BE2_C	brain:	n/a
16	chr21:45138843-45138893	GM06990	blood:	n/a
17	chr21:45140831-45140881	HL-60	blood:	n/a
18	chr21:45140831-45140881	A549	lung:	n/a
19	chr21:45149373-45149423	NHDF-neo	bronchial:	n/a
20	chr21:45139379-45139429	U87	brain:	n/a
21	chr21:45145841-45145891	HCT-116	colon:	n/a
22	chr21:45149373-45149423	RPTEC	kidney:	n/a
23	chr21:45143399-45143449	ECC-1	luminal epithelium:	n/a
24	chr21:45148460-45148510	Hepatocyte	liver:	n/a
25	chr21:45148332-45148382	K562	blood:	n/a
26	chr21:45138838-45138888	HCM	heart:	n/a
27	chr21:45149141-45149191	GM12892	blood:	n/a
28	chr21:45149398-45149448	AG04449	skin:	fetal
29	chr21:45138838-45138888	SK-N-SH_RA	brain:	n/a
30	chr21:45143399-45143449	PANC-1	pancreas:	n/a
31	chr21:45148879-45148929	HCT-116	colon:	n/a
32	chr21:45145759-45145809	NHDF-neo	bronchial:	n/a
33	chr21:45135999-45136049	AoSMC	blood vessel:	n/a
34	chr21:45139379-45139429	HEK293	kidney:	embryo
35	chr21:45149398-45149448	AG04450	lung:	fetal
36	chr21:45149398-45149448	HCF	heart:	n/a
37	chr21:45149398-45149448	NB4	blood:	n/a
38	chr21:45140831-45140881	U87	brain:	n/a
39	chr21:45148332-45148382	RPTEC	kidney:	n/a
40	chr21:45140831-45140881	HCF	heart:	n/a
41	chr21:45139229-45139279	HUVEC	blood vessel:	n/a
42	chr21:45153009-45153059	GM19239	blood:	n/a
43	chr21:45144343-45144393	MCF10A-Er-Src	breast:	n/a
44	chr21:45145841-45145891	HCF	heart:	n/a
45	chr21:45138847-45138897	GM06990	blood:	n/a
46	chr21:45140831-45140881	PFSK-1	brain:	n/a
47	chr21:45138294-45138344	RPTEC	kidney:	n/a
48	chr21:45144343-45144393	PrEC	prostate:	n/a
49	chr21:45135999-45136049	T-47D	breast:	n/a
50	chr21:45138838-45138888	HepG2	liver:	n/a

(count:106 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:45156965..45158670-chr21:45174699..45176799,2	K562	blood:
2	chr21:45118243..45120593-chr21:45129634..45132002,2	MCF-7	breast:
3	chr21:45130889..45133239-chr21:45139686..45141208,2	K562	blood:
4	chr21:45078168..45080813-chr21:45138258..45142239,4	K562	blood:
5	chr21:44393615..44395899-chr21:45138113..45140493,2	K562	blood:
6	chr21:45137876..45142347-chr21:45194759..45200624,9	MCF-7	breast:
7	chr21:45121738..45123738-chr21:45125330..45128089,2	K562	blood:
8	chr21:45077301..45079668-chr21:45138843..45140832,3	K562	blood:
9	chr21:44935152..44938727-chr21:45130277..45133903,3	MCF-7	breast:
10	chr17:41400474..41402033-chr21:45139441..45140961,2	MCF-7	breast:
11	chr21:45118387..45122878-chr21:45135250..45139536,6	K562	blood:
12	chr21:45078177..45082024-chr21:45131002..45134092,5	MCF-7	breast:
13	chr21:45112710..45116467-chr21:45117620..45123990,9	K562	blood:
14	chr21:38741635..38744508-chr21:45132174..45134612,2	K562	blood:
15	chr21:45153763..45156767-chr21:45158365..45161211,5	MCF-7	breast:
16	chr21:45136716..45139544-chr3:64006873..64009163,2	MCF-7	breast:
17	chr21:44527539..44529052-chr21:45138865..45141097,2	K562	blood:
18	chr21:45132246..45134583-chr21:45199684..45202380,3	MCF-7	breast:
19	chr11:62432398..62433340-chr21:45138648..45139625,2	MCF-7	breast:
20	chr21:45151886..45156250-chr21:45192617..45197213,5	MCF-7	breast:
21	chr21:45141572..45144183-chr21:45194386..45198670,4	K562	blood:
22	chr21:45154001..45156611-chr21:45177637..45180387,2	K562	blood:
23	chr21:45077838..45080620-chr21:45152184..45154376,2	MCF-7	breast:
24	chr21:45123766..45125977-chr21:45129087..45131588,2	K562	blood:
25	chr12:120727925..120730755-chr21:45138077..45140298,2	MCF-7	breast:
26	chr21:45118554..45121566-chr21:45135917..45139666,5	MCF-7	breast:
27	chr21:45131275..45134749-chr21:45135159..45139580,7	K562	blood:
28	chr21:45131271..45133186-chr21:45431822..45433921,2	MCF-7	breast:
29	chr21:45108111..45109755-chr21:45119044..45121389,2	K562	blood:
30	chr21:45146427..45148749-chr21:45209148..45210811,2	K562	blood:
31	chr21:45126696..45129955-chr21:45130404..45132264,4	MCF-7	breast:
32	chr21:45122068..45123972-chr21:45132668..45134422,2	K562	blood:
33	chr21:45112896..45115809-chr21:45116596..45119120,4	K562	blood:
34	chr21:45130889..45133239-chr21:45139686..45141208,2	K562	blood:
35	chr21:45152139..45163298-chr21:45164540..45174522,16	K562	blood:
36	chr21:44394729..44396277-chr21:45138959..45140606,2	MCF-7	breast:
37	chr21:45137459..45139006-chr21:45757903..45760574,2	K562	blood:
38	chr21:45077151..45082106-chr21:45128357..45133852,8	MCF-7	breast:
39	chr17:41466194..41467161-chr21:45138941..45139461,2	MCF-7	breast:
40	chr21:45156182..45158069-chr21:45230385..45232004,2	K562	blood:
41	chr21:45118336..45120442-chr21:45148784..45150627,2	K562	blood:
42	chr21:45129817..45132272-chr21:45195009..45196522,2	MCF-7	breast:
43	chr21:45118172..45120404-chr21:45121185..45123941,2	K562	blood:
44	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
45	chr21:45137354..45140305-chr21:45163614..45165870,3	MCF-7	breast:
46	chr21:45154618..45156575-chr21:45170589..45173066,2	K562	blood:
47	chr21:45077264..45080546-chr21:45137817..45144125,9	MCF-7	breast:
48	chr21:45154933..45157513-chr21:45174243..45177077,2	MCF-7	breast:
49	chr21:44935059..44936997-chr21:45153609..45155904,2	MCF-7	breast:
50	chr21:45123530..45125041-chr21:45125684..45127237,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1B-1	chr21:45141573-45141787	ENSG00000241238.1
2	lnc-RRP1B-1	chr21:45152020-45152146	ENSG00000241238.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PDXK	hsa-miR-193b-3p	chr21:45157285-45157305

Variant related genes	Relation type
PDXK	TF binding region
PDXK	CpG island
ENSG00000160218	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000160194	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000160193	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000160199	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000173473	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000160201	chromatin interactions

Extended variants
information (count: 1777 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1777 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545433378	chr21:45118697-45118698	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11700909	chr21:45118701-45118702	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs113066717	chr21:45118722-45118723	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11700913	chr21:45118727-45118728	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149587928	chr21:45118749-45118750	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528668670	chr21:45118750-45118751	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546740138	chr21:45118766-45118767	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558857355	chr21:45118774-45118775	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565483960	chr21:45118801-45118802	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539149133	chr21:45118825-45118826	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376567843	chr21:45118850-45118851	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186293776	chr21:45118860-45118861	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537023256	chr21:45118909-45118910	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147283320	chr21:45118910-45118911	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573942753	chr21:45118917-45118918	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534814722	chr21:45118941-45118942	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553204022	chr21:45118949-45118950	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35296444	chr21:45118950-45118951	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140877920	chr21:45118954-45118955	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4819285	chr21:45118970-45118971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs563732366	chr21:45119023-45119024	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77003306	chr21:45119034-45119035	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542569776	chr21:45119035-45119036	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561247878	chr21:45119051-45119052	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143213698	chr21:45119061-45119062	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540466606	chr21:45119062-45119063	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111736515	chr21:45119065-45119066	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs8129601	chr21:45119104-45119105	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs533075943	chr21:45119155-45119156	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551208478	chr21:45119168-45119169	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2838353	chr21:45119228-45119229	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs9978934	chr21:45119237-45119238	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530483375	chr21:45119253-45119254	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189642867	chr21:45119257-45119258	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs180847286	chr21:45119259-45119260	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534909106	chr21:45119277-45119278	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs199506868	chr21:45119302-45119303	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571334152	chr21:45119339-45119340	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538790332	chr21:45119350-45119351	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148589476	chr21:45119446-45119447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575644567	chr21:45119447-45119448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542656103	chr21:45119484-45119485	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554533511	chr21:45119510-45119511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113586479	chr21:45119608-45119609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4818860	chr21:45119617-45119618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs565544911	chr21:45119624-45119625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs13049917	chr21:45119629-45119630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs544752501	chr21:45119683-45119684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs142992662	chr21:45119714-45119715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530620147	chr21:45119725-45119726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2719 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45080600-45122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45080800-45121800	Weak transcription	Fetal Heart	heart
3	chr21:45080800-45122600	Weak transcription	Small Intestine	intestine
4	chr21:45094800-45122000	Weak transcription	Right Atrium	heart
5	chr21:45106800-45120800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:45111000-45130600	Weak transcription	HSMM	muscle
7	chr21:45111200-45122800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr21:45111400-45120600	Weak transcription	Stomach Mucosa	stomach
9	chr21:45113000-45122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:45113200-45122600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr21:45113200-45123400	Weak transcription	HSMMtube	muscle
12	chr21:45113800-45121800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr21:45113800-45122400	Weak transcription	Fetal Brain Male	brain
14	chr21:45114000-45122400	Weak transcription	NHDF-Ad	bronchial
15	chr21:45114200-45122600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr21:45114400-45121200	Weak transcription	Brain Angular Gyrus	brain
17	chr21:45114600-45119800	Weak transcription	Brain Substantia Nigra	brain
18	chr21:45114600-45122000	Weak transcription	Esophagus	oesophagus
19	chr21:45114600-45122200	Weak transcription	Psoas Muscle	Psoas
20	chr21:45114600-45123200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:45114800-45120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:45114800-45120800	Weak transcription	GM12878-XiMat	blood
23	chr21:45114800-45122200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr21:45114800-45122200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr21:45114800-45122200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr21:45115000-45119800	Weak transcription	Brain Hippocampus Middle	brain
27	chr21:45115000-45119800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr21:45115000-45120400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr21:45115000-45122200	Weak transcription	Gastric	stomach
30	chr21:45115000-45122800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr21:45115000-45122800	Weak transcription	Fetal Brain Female	brain
32	chr21:45115000-45130800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr21:45115200-45119400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr21:45115200-45122200	Weak transcription	Adipose Nuclei	Adipose
35	chr21:45115400-45119600	Weak transcription	Brain Anterior Caudate	brain
36	chr21:45115400-45120400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr21:45115400-45122400	Weak transcription	Fetal Lung	lung
38	chr21:45115600-45122600	Weak transcription	Osteobl	bone
39	chr21:45115800-45131800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr21:45116000-45122600	Weak transcription	NH-A	brain
41	chr21:45116200-45122000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:45116200-45122200	Weak transcription	Placenta	Placenta
43	chr21:45116200-45122400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr21:45116200-45122400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr21:45116200-45122800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr21:45116400-45119200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr21:45116400-45120000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr21:45116400-45121000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr21:45116400-45121800	Weak transcription	Right Ventricle	heart
50	chr21:45116400-45122000	Weak transcription	Brain Germinal Matrix	brain

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