Variant report

Variant	nsv876797
Chromosome Location	chr3:52817675-52873984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1082)
CpG islands
(count:2077)
Chromatin interactive
region (count:54)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1082 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:52833269-52833345	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:52821842-52822037	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:52826477-52826740	HepG2	liver:	n/a	n/a
4	BACH1	chr3:52861867-52862005	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr3:52865717-52865727	K562	blood:	n/a	n/a
6	BHLHE40	chr3:52861598-52862148	HepG2	liver:	n/a	n/a
7	BHLHE40	chr3:52854823-52855129	K562	blood:	n/a	n/a
8	BHLHE40	chr3:52839310-52839582	K562	blood:	n/a	n/a
9	BHLHE40	chr3:52828615-52829002	HepG2	liver:	n/a	n/a
10	BHLHE40	chr3:52865438-52865469	K562	blood:	n/a	n/a
11	BHLHE40	chr3:52854812-52855172	HepG2	liver:	n/a	n/a
12	BRCA1	chr3:52861835-52862052	HepG2	liver:	n/a	n/a
13	BRCA1	chr3:52854959-52855112	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr3:52826537-52826552	HepG2	liver:	n/a	n/a
15	BRCA1	chr3:52854856-52854990	GM12878	blood:	n/a	n/a
16	CEBPB	chr3:52867988-52868177	HepG2	liver:	n/a	chr3:52868114-52868126 chr3:52868095-52868106 chr3:52868096-52868107
17	CEBPB	chr3:52868833-52869112	K562	blood:	n/a	n/a
18	CEBPB	chr3:52867956-52868156	IMR90	lung:	n/a	chr3:52868114-52868126 chr3:52868095-52868106 chr3:52868096-52868107
19	CEBPB	chr3:52858169-52858472	HepG2	liver:	n/a	chr3:52858308-52858319
20	CEBPB	chr3:52854911-52854998	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr3:52826978-52827100	K562	blood:	n/a	chr3:52827021-52827032
22	CEBPB	chr3:52868800-52869160	IMR90	lung:	n/a	n/a
23	CEBPB	chr3:52821859-52822033	HepG2	liver:	n/a	n/a
24	CEBPB	chr3:52868794-52869176	HepG2	liver:	n/a	n/a
25	CEBPB	chr3:52845690-52846099	HepG2	liver:	n/a	n/a
26	CEBPB	chr3:52858224-52858408	IMR90	lung:	n/a	chr3:52858308-52858319
27	CEBPB	chr3:52858268-52858360	K562	blood:	n/a	chr3:52858308-52858319
28	CEBPB	chr3:52826989-52827166	HepG2	liver:	n/a	chr3:52827021-52827032
29	CEBPB	chr3:52867926-52868142	K562	blood:	n/a	chr3:52868114-52868126 chr3:52868095-52868106 chr3:52868096-52868107
30	CEBPB	chr3:52845857-52846020	HepG2	liver:	n/a	n/a
31	CEBPB	chr3:52828143-52828623	HepG2	liver:	n/a	n/a
32	CEBPB	chr3:52868797-52869173	HepG2	liver:	n/a	n/a
33	CEBPB	chr3:52868884-52869049	HepG2	liver:	n/a	n/a
34	CEBPD	chr3:52829391-52829764	HepG2	liver:	n/a	n/a
35	CEBPD	chr3:52828510-52828965	HepG2	liver:	n/a	n/a
36	CHD2	chr3:52847875-52847985	HepG2	liver:	n/a	n/a
37	CHD2	chr3:52829439-52829587	HepG2	liver:	n/a	n/a
38	CHD2	chr3:52865590-52865602	HepG2	liver:	n/a	n/a
39	CHD2	chr3:52828733-52828928	HepG2	liver:	n/a	n/a
40	CHD2	chr3:52844127-52844207	HepG2	liver:	n/a	n/a
41	CHD2	chr3:52828421-52828426	HepG2	liver:	n/a	n/a
42	CHD2	chr3:52854957-52855001	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr3:52833121-52833267	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr3:52854900-52855050	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr3:52861795-52862028	K562	blood:	n/a	n/a
46	CTCF	chr3:52854900-52855050	RPTEC	kidney:	n/a	n/a
47	CTCF	chr3:52854638-52854684	GM19240	blood:	n/a	n/a
48	CTCF	chr3:52833158-52833385	GM10266	blood:	n/a	chr3:52833256-52833274
49	CTCF	chr3:52854691-52854750	GM19240	blood:	n/a	n/a
50	CTCF	chr3:52833180-52833330	GM12865	blood:	n/a	chr3:52833256-52833274

(count:2077 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52864812-52864862	GM06990	blood:	n/a
2	chr3:52827657-52827707	HL-60	blood:	n/a
3	chr3:52869263-52869313	GM12891	blood:	n/a
4	chr3:52864812-52864862	GM06990	blood:	n/a
5	chr3:52827657-52827707	HL-60	blood:	n/a
6	chr3:52869263-52869313	GM12891	blood:	n/a
7	chr3:52835147-52835197	SK-N-SH	brain:	n/a
8	chr3:52869521-52869571	HIPEpiC	eye:	n/a
9	chr3:52835147-52835197	NH-A	brain:	n/a
10	chr3:52865917-52865967	HepG2	liver:	n/a
11	chr3:52868999-52869049	MCF10A-Er-Src	breast:	n/a
12	chr3:52828680-52828730	GM19239	blood:	n/a
13	chr3:52826071-52826121	HL-60	blood:	n/a
14	chr3:52869266-52869316	HEEpiC	esophagus:	n/a
15	chr3:52870543-52870593	Caco-2	colon:	n/a
16	chr3:52869738-52869788	RPTEC	kidney:	n/a
17	chr3:52869521-52869571	AG09309	skin:	n/a
18	chr3:52828794-52828844	GM19239	blood:	n/a
19	chr3:52847250-52847300	MCF10A-Er-Src	breast:	n/a
20	chr3:52869263-52869313	SAEC	small airway:	n/a
21	chr3:52828680-52828730	ovcar-3	ovarian:	n/a
22	chr3:52835147-52835197	HIPEpiC	eye:	n/a
23	chr3:52828583-52828633	PANC-1	pancreas:	n/a
24	chr3:52865917-52865967	AG04450	lung:	fetal
25	chr3:52864812-52864862	HCF	heart:	n/a
26	chr3:52869521-52869571	IMR90	lung:	fetal
27	chr3:52827657-52827707	MCF10A-Er-Src	breast:	n/a
28	chr3:52867330-52867380	GM12892	blood:	n/a
29	chr3:52835147-52835197	ProgFib	skin:	n/a
30	chr3:52869288-52869338	HCM	heart:	n/a
31	chr3:52869266-52869316	HCM	heart:	n/a
32	chr3:52865637-52865687	AG10803	skin:	n/a
33	chr3:52864816-52864866	Hepatocyte	liver:	n/a
34	chr3:52867330-52867380	NT2-D1	testis:	n/a
35	chr3:52864812-52864862	HUVEC	blood vessel:	n/a
36	chr3:52865917-52865967	GM12892	blood:	n/a
37	chr3:52864694-52864744	HRCEpiC	kidney:	n/a
38	chr3:52864907-52864957	GM12892	blood:	n/a
39	chr3:52867330-52867380	A549	lung:	n/a
40	chr3:52853622-52853672	PANC-1	pancreas:	n/a
41	chr3:52842806-52842856	NHDF-neo	bronchial:	n/a
42	chr3:52864812-52864862	Hela-S3	cervix:	n/a
43	chr3:52828818-52828868	K562	blood:	n/a
44	chr3:52869263-52869313	SK-N-MC	brain:	n/a
45	chr3:52869307-52869357	Hela-S3	cervix:	n/a
46	chr3:52828794-52828844	HRE	kidney:	n/a
47	chr3:52869263-52869313	K562	blood:	n/a
48	chr3:52869288-52869338	A549	lung:	n/a
49	chr3:52842806-52842856	Jurkat	blood:	n/a
50	chr3:52869266-52869316	NHDF-neo	bronchial:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:52818572..52822409-chr3:52823256..52828567,5	K562	blood:
2	chr3:52836954..52839305-chr3:52853241..52854782,2	K562	blood:
3	chr3:52827519..52829330-chr3:52834424..52837850,3	MCF-7	breast:
4	chr3:52804079..52807046-chr3:52844377..52847096,2	K562	blood:
5	chr3:52865265..52868196-chr3:52870244..52872785,3	K562	blood:
6	chr3:52857160..52859270-chr3:52860269..52862799,2	K562	blood:
7	chr3:52860455..52862109-chr3:52862343..52864733,2	K562	blood:
8	chr3:52831758..52833558-chr3:52833637..52835171,2	K562	blood:
9	chr3:52834279..52837211-chr3:52858122..52860407,2	K562	blood:
10	chr3:52847640..52851112-chr3:52852588..52855076,3	MCF-7	breast:
11	chr3:52828891..52830949-chr3:52832398..52834314,2	MCF-7	breast:
12	chr3:52831117..52833454-chr3:52835406..52839409,3	K562	blood:
13	chr3:52819022..52821940-chr3:52830532..52832899,2	K562	blood:
14	chr3:52863659..52864274-chr6:31619900..31620694,2	Hela-S3	cervix:
15	chr3:52803280..52805303-chr3:52832255..52833885,2	MCF-7	breast:
16	chr3:52817973..52820437-chr3:52833631..52835650,3	K562	blood:
17	chr3:52811385..52813588-chr3:52817672..52820619,2	MCF-7	breast:
18	chr3:52847640..52851112-chr3:52852588..52855076,3	MCF-7	breast:
19	chr3:52803948..52806345-chr3:52865313..52866850,2	MCF-7	breast:
20	chr3:52860455..52862109-chr3:52862343..52864733,2	K562	blood:
21	chr3:52818249..52820505-chr3:52837668..52840542,3	K562	blood:
22	chr3:52867798..52869834-chr3:52876401..52878497,2	MCF-7	breast:
23	chr3:52803808..52806025-chr3:52842243..52844077,2	K562	blood:
24	chr3:52817973..52820437-chr3:52833631..52835650,3	K562	blood:
25	chr3:52804965..52807719-chr3:52819198..52820979,2	K562	blood:
26	chr3:52838823..52840862-chr3:52860231..52862764,2	K562	blood:
27	chr3:52818572..52822409-chr3:52823256..52828567,5	K562	blood:
28	chr3:52864085..52867017-chr3:52872869..52875445,2	MCF-7	breast:
29	chr3:52804000..52806287-chr3:52829373..52831627,2	MCF-7	breast:
30	chr3:52864085..52867017-chr3:52872869..52875445,2	MCF-7	breast:
31	chr3:52831402..52833454-chr3:52836536..52839409,2	K562	blood:
32	chr3:52831402..52833454-chr3:52836536..52839409,2	K562	blood:
33	chr3:52819022..52821940-chr3:52830532..52832899,2	K562	blood:
34	chr3:52864330..52865199-chr8:22298092..22298672,2	Hela-S3	cervix:
35	chr3:52818249..52820505-chr3:52837668..52840542,3	K562	blood:
36	chr3:52719608..52722839-chr3:52830545..52833712,3	K562	blood:
37	chr3:52812843..52815732-chr3:52828403..52831078,2	K562	blood:
38	chr3:52859743..52862109-chr3:52863233..52865763,2	K562	blood:
39	chr3:52836954..52839305-chr3:52853241..52854782,2	K562	blood:
40	chr3:52834279..52837211-chr3:52858122..52860407,2	K562	blood:
41	chr3:52857160..52859270-chr3:52860269..52862799,2	K562	blood:
42	chr3:52802780..52807602-chr3:52827391..52831755,5	K562	blood:
43	chr3:52831758..52833558-chr3:52833637..52835171,2	K562	blood:
44	chr3:52827519..52829330-chr3:52834424..52837850,3	MCF-7	breast:
45	chr3:52827101..52830669-chr3:52833208..52834941,3	K562	blood:
46	chr3:52462640..52463186-chr3:52854147..52854995,2	K562	blood:
47	chr3:52827101..52830669-chr3:52833208..52834941,3	K562	blood:
48	chr3:52866935..52869268-chr3:52870360..52872444,2	K562	blood:
49	chr3:52859743..52862109-chr3:52863233..52865763,2	K562	blood:
50	chr3:52861566..52862446-chr3:52879879..52880402,2	MCF-7	breast:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITIH4-1	chr3:52863876-52864686	NONHSAT089968
2	lnc-ITIH3-1	chr3:52858128-52858353	ENSG00000239799.1
3	lnc-ITIH4-1	chr3:52865424-52865495	NONHSAT089968
4	lnc-TMEM110-MUSTN1-1	chr3:52872020-52873766	NONHSAT089970
5	lnc-ITIH3-1	chr3:52857951-52858009	ENSG00000239799.1
6	lnc-ITIH3-2	chr3:52829619-52830057	NONHSAT089957
7	lnc-ITIH4-2	chr3:52844728-52846754	NONHSAT089960
8	lnc-ITIH3-1	chr3:52859221-52859330	ENSG00000239799.1
9	lnc-TMEM110-MUSTN1-3	chr3:52855095-52855146	NONHSAT089965
10	lnc-ITIH3-2	chr3:52828784-52828912	NONHSAT089957
11	lnc-TMEM110-MUSTN1-3	chr3:52856282-52856355	NONHSAT089965
12	lnc-TMEM110-MUSTN1-4	chr3:52852478-52852552	NONHSAT089963
13	lnc-TMEM110-MUSTN1-4	chr3:52852068-52852299	NONHSAT089963
14	lnc-ITIH1-1	chr3:52840309-52840422	NONHSAT089958
15	lnc-TMEM110-MUSTN1-3	chr3:52857351-52857722	NONHSAT089965
16	lnc-ITIH1-1	chr3:52838019-52838750	NONHSAT089958
17	lnc-ITIH1-1	chr3:52840119-52840154	NONHSAT089958
18	lnc-TMEM110-MUSTN1-4	chr3:52853409-52853534	NONHSAT089963
19	lnc-ITIH1-1	chr3:52840917-52840954	NONHSAT089958
20	lnc-TMEM110-MUSTN1-4	chr3:52853770-52853917	NONHSAT089963

No data

Variant related genes	Relation type
ITIH3	TF binding region
ITIH1	TF binding region
MUSTN1	TF binding region
ITIH4-AS1	TF binding region
ENSG00000243696	TF binding region
ITIH4	TF binding region
ITIH3	CpG island
ITIH1	CpG island
MUSTN1	CpG island
ITIH4-AS1	CpG island
ENSG00000243696	CpG island
ITIH4	CpG island
ENSG00000213533	chromatin interactions
ENSG00000239799	chromatin interactions
ENSG00000055957	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000055955	chromatin interactions
ENSG00000163939	chromatin interactions
ENSG00000114902	chromatin interactions
ENSG00000162267	chromatin interactions
ENSG00000114904	chromatin interactions
ENSG00000248592	chromatin interactions
ENSG00000120910	chromatin interactions
ENSG00000204444	chromatin interactions
ENSG00000272573	chromatin interactions
ENSG00000163938	chromatin interactions
ENSG00000243696	chromatin interactions
ENSG00000016864	chromatin interactions

Extended variants
information (count: 2720 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2720 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3774354	chr3:52817675-52817676	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537522451	chr3:52817686-52817687	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180842644	chr3:52817719-52817720	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76214357	chr3:52817735-52817736	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534105611	chr3:52817736-52817737	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553605607	chr3:52817770-52817771	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3774355	chr3:52817778-52817779	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs542580814	chr3:52817814-52817815	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs58057636	chr3:52817847-52817848	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576154120	chr3:52817889-52817890	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs3774356	chr3:52817891-52817892	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs565513025	chr3:52817977-52817978	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs151244092	chr3:52817982-52817983	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541712721	chr3:52818001-52818002	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554370930	chr3:52818018-52818019	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530402191	chr3:52818023-52818024	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549027735	chr3:52818045-52818046	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs2079928	chr3:52818070-52818071	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531475951	chr3:52818071-52818072	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551151316	chr3:52818114-52818115	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs7621840	chr3:52818214-52818215	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183977178	chr3:52818255-52818256	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553669424	chr3:52818257-52818258	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs117350225	chr3:52818285-52818286	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs11715487	chr3:52818301-52818302	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371773135	chr3:52818304-52818305	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs376319251	chr3:52818313-52818314	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs141962026	chr3:52818323-52818324	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556183211	chr3:52818344-52818345	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369626395	chr3:52818347-52818348	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs576348078	chr3:52818348-52818349	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs368393015	chr3:52818353-52818354	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375346747	chr3:52818357-52818358	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200097012	chr3:52818359-52818360	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs572622802	chr3:52818372-52818373	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs138975130	chr3:52818373-52818374	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs149431719	chr3:52818415-52818416	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs144262032	chr3:52818419-52818420	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs561445407	chr3:52818427-52818428	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs202071767	chr3:52818442-52818443	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148659769	chr3:52818443-52818444	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs140460972	chr3:52818446-52818447	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369941533	chr3:52818456-52818457	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs145303032	chr3:52818463-52818464	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs141983482	chr3:52818474-52818475	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs562477828	chr3:52818495-52818496	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs79079712	chr3:52818500-52818501	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372893557	chr3:52818504-52818505	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs377241569	chr3:52818506-52818507	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs564797019	chr3:52818508-52818509	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1049 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52805600-52825800	Weak transcription	Right Ventricle	heart
2	chr3:52814800-52826400	Genic enhancers	Liver	Liver
3	chr3:52816200-52819000	Weak transcription	Spleen	Spleen
4	chr3:52816400-52818600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:52816400-52825800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:52817000-52820400	Enhancers	HepG2	liver
7	chr3:52818000-52818200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:52819000-52819600	Enhancers	Spleen	Spleen
9	chr3:52819600-52823000	Weak transcription	Spleen	Spleen
10	chr3:52820400-52822600	Flanking Active TSS	HepG2	liver
11	chr3:52821400-52822000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:52821400-52822200	Enhancers	Adipose Nuclei	Adipose
13	chr3:52821600-52821800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:52821600-52822200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:52821600-52822400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:52821600-52822400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr3:52821800-52822200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:52821800-52822200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:52821800-52822400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:52822000-52822200	Enhancers	Colonic Mucosa	Colon
21	chr3:52822000-52822400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
22	chr3:52822000-52824000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:52822200-52822400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:52822200-52822400	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr3:52822400-52822600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr3:52822600-52826200	Enhancers	HepG2	liver
27	chr3:52823000-52823600	Enhancers	Spleen	Spleen
28	chr3:52823400-52824600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:52823600-52823800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:52823600-52824200	Enhancers	Esophagus	oesophagus
31	chr3:52823600-52827000	Weak transcription	Spleen	Spleen
32	chr3:52823800-52824200	Enhancers	HMEC	breast
33	chr3:52824000-52824400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:52824000-52832800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:52824400-52824800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:52825400-52825800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:52825400-52827800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr3:52825800-52826200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:52825800-52836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:52826000-52826200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr3:52826000-52826800	Enhancers	Fetal Intestine Small	intestine
42	chr3:52826000-52829000	Enhancers	Fetal Muscle Leg	muscle
43	chr3:52826200-52826400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:52826200-52826400	Weak transcription	Pancreas	Pancrea
45	chr3:52826200-52826600	Flanking Active TSS	HepG2	liver
46	chr3:52826200-52826800	Enhancers	Fetal Intestine Large	intestine
47	chr3:52826200-52827400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:52826400-52826600	Enhancers	Pancreas	Pancrea
49	chr3:52826400-52828200	Enhancers	Liver	Liver
50	chr3:52826600-52827600	Enhancers	HepG2	liver

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