Variant report

Variant	esv3438151
Chromosome Location	chr3:46734173-46736721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:264)
CpG islands
(count:794)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:46734048-46734515	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr3:46735430-46735744	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr3:46734263-46734269	A549	lung:	n/a	n/a
4	BHLHE40	chr3:46734493-46734748	K562	blood:	n/a	n/a
5	BHLHE40	chr3:46735446-46735593	K562	blood:	n/a	n/a
6	BRCA1	chr3:46734876-46735076	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr3:46734819-46735516	K562	blood:	n/a	n/a
8	CEBPB	chr3:46734030-46734446	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr3:46733976-46735314	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr3:46734962-46735064	K562	blood:	n/a	n/a
11	CHD2	chr3:46735396-46735559	K562	blood:	n/a	chr3:46735520-46735530 chr3:46735402-46735412
12	CREB1	chr3:46734712-46734921	A549	lung:	n/a	n/a
13	CTCF	chr3:46734939-46735098	GM12878	blood:	n/a	chr3:46735057-46735070
14	CTCF	chr3:46736706-46737033	GM12878	blood:	n/a	n/a
15	CTCF	chr3:46735017-46735129	GM19239	blood:	n/a	chr3:46735057-46735070
16	CTCF	chr3:46735860-46736010	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr3:46734420-46734570	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr3:46734963-46735055	GM13976	blood:	n/a	n/a
19	CTCF	chr3:46735043-46735120	MCF-7	breast:	n/a	chr3:46735057-46735070
20	CTCF	chr3:46735840-46735990	GM12873	blood:	n/a	n/a
21	CTCF	chr3:46734920-46735070	SK-N-SH_RA	brain:	n/a	chr3:46735057-46735070
22	CTCF	chr3:46735000-46735150	GM12871	blood:	n/a	chr3:46735057-46735070
23	CTCF	chr3:46734960-46735110	Caco-2	colon:	n/a	chr3:46735057-46735070
24	CTCF	chr3:46735013-46735145	K562	blood:	n/a	chr3:46735057-46735070
25	CTCF	chr3:46734932-46735138	K562	blood:	n/a	chr3:46735057-46735070
26	CTCF	chr3:46734940-46735090	HMEC	breast:	n/a	chr3:46735057-46735070
27	CTCF	chr3:46734356-46734446	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr3:46735060-46735210	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr3:46736598-46737055	H1-hESC	embryonic stem cell:	n/a	chr3:46736686-46736694
30	CTCF	chr3:46735000-46735150	GM06990	blood:	n/a	chr3:46735057-46735070
31	CTCF	chr3:46735009-46735168	GM12892	blood:	n/a	chr3:46735057-46735070
32	CTCF	chr3:46734700-46734850	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr3:46734700-46734850	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr3:46734974-46735176	NHEK	skin:	n/a	chr3:46735057-46735070
35	CTCF	chr3:46735040-46735190	SAEC	small airway:	n/a	chr3:46735057-46735070
36	CTCF	chr3:46735044-46735114	H1-hESC	embryonic stem cell:	n/a	chr3:46735057-46735070
37	CTCF	chr3:46734208-46734256	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:46735040-46735190	AG04449	skin:	n/a	chr3:46735057-46735070
39	CTCF	chr3:46734820-46734970	AoAF	blood vessel:	n/a	chr3:46734858-46734871
40	CTCF	chr3:46735820-46735970	GM12872	blood:	n/a	n/a
41	CTCF	chr3:46734925-46735215	K562	blood:	n/a	chr3:46735057-46735070
42	CTCF	chr3:46734130-46734356	NHEK	skin:	n/a	n/a
43	CTCF	chr3:46735000-46735150	AG09319	gingival:	n/a	chr3:46735057-46735070
44	CTCF	chr3:46736720-46736870	HVMF	connective:	n/a	n/a
45	CTCF	chr3:46735043-46735078	Pancreas_OC	pancreas:	n/a	chr3:46735057-46735070
46	CTCF	chr3:46734960-46735110	GM12873	blood:	n/a	chr3:46735057-46735070
47	CTCF	chr3:46735051-46735112	MCF-7	breast:	n/a	chr3:46735057-46735070
48	CTCF	chr3:46736500-46736650	GM12872	blood:	n/a	n/a
49	CTCF	chr3:46734920-46735070	GM12875	blood:	n/a	chr3:46735057-46735070
50	CTCF	chr3:46734800-46734950	HMEC	breast:	n/a	chr3:46734858-46734871

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46735319-46735369	AG09309	skin:	n/a
2	chr3:46735319-46735369	AG09309	skin:	n/a
3	chr3:46735335-46735385	LNCaP	prostate:	n/a
4	chr3:46735454-46735504	HMEC	breast:	n/a
5	chr3:46735801-46735851	HEEpiC	esophagus:	n/a
6	chr3:46735152-46735202	HAEpiC	amniotic membrane:	n/a
7	chr3:46735152-46735202	MCF-7	breast:	n/a
8	chr3:46735152-46735202	Caco-2	colon:	n/a
9	chr3:46735782-46735832	NH-A	brain:	n/a
10	chr3:46735782-46735832	HepG2	liver:	n/a
11	chr3:46735154-46735204	ovcar-3	ovarian:	n/a
12	chr3:46735454-46735504	U87	brain:	n/a
13	chr3:46735695-46735745	BE2_C	brain:	n/a
14	chr3:46735319-46735369	Caco-2	colon:	n/a
15	chr3:46735152-46735202	GM12891	blood:	n/a
16	chr3:46735801-46735851	HRPEpiC	eye:	n/a
17	chr3:46735338-46735388	NH-A	brain:	n/a
18	chr3:46735801-46735851	MCF-7	breast:	n/a
19	chr3:46735152-46735202	HPAEpiC	pulmonary alveolar:	n/a
20	chr3:46735319-46735369	K562	blood:	n/a
21	chr3:46735338-46735388	ECC-1	luminal epithelium:	n/a
22	chr3:46735154-46735204	HEEpiC	esophagus:	n/a
23	chr3:46735335-46735385	HRPEpiC	eye:	n/a
24	chr3:46735338-46735388	HPAEpiC	pulmonary alveolar:	n/a
25	chr3:46735801-46735851	GM12891	blood:	n/a
26	chr3:46735801-46735851	Jurkat	blood:	n/a
27	chr3:46735335-46735385	MCF10A-Er-Src	breast:	n/a
28	chr3:46734393-46734443	AG04450	lung:	fetal
29	chr3:46735335-46735385	NHDF-neo	bronchial:	n/a
30	chr3:46735338-46735388	IMR90	lung:	fetal
31	chr3:46735338-46735388	GM06990	blood:	n/a
32	chr3:46734995-46735045	K562	blood:	n/a
33	chr3:46735152-46735202	HUVEC	blood vessel:	n/a
34	chr3:46735801-46735851	AG04449	skin:	fetal
35	chr3:46734393-46734443	PANC-1	pancreas:	n/a
36	chr3:46735154-46735204	SK-N-SH	brain:	n/a
37	chr3:46735154-46735204	NT2-D1	testis:	n/a
38	chr3:46735695-46735745	NB4	blood:	n/a
39	chr3:46735801-46735851	GM19239	blood:	n/a
40	chr3:46735454-46735504	Caco-2	colon:	n/a
41	chr3:46735695-46735745	NH-A	brain:	n/a
42	chr3:46735315-46735365	NHBE	bronchial:	n/a
43	chr3:46735154-46735204	NH-A	brain:	n/a
44	chr3:46735154-46735204	AG04450	lung:	fetal
45	chr3:46735782-46735832	NHBE	bronchial:	n/a
46	chr3:46735319-46735369	HNPCEpiC	eye:	n/a
47	chr3:46735154-46735204	U87	brain:	n/a
48	chr3:46735782-46735832	HL-60	blood:	n/a
49	chr3:46735335-46735385	SKMC	muscle:	n/a
50	chr3:46735695-46735745	HIPEpiC	eye:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9913950..9914878-chr3:46734098..46734723,2	Hela-S3	cervix:
2	chr3:46722742..46724325-chr3:46733459..46735116,2	K562	blood:
3	chr3:46735218..46737600-chr3:46738787..46741218,2	K562	blood:
4	chr3:46729365..46731831-chr3:46732714..46735067,2	K562	blood:
5	chr3:46727378..46730139-chr3:46733383..46735627,3	MCF-7	breast:
6	chr3:46734355..46735316-chr5:133512715..133513418,2	Hela-S3	cervix:
7	chr3:46702436..46704815-chr3:46735975..46737913,2	MCF-7	breast:
8	chr3:46734848..46735671-chr3:160283077..160283853,2	Hela-S3	cervix:
9	chr1:145382730..145383465-chr3:46734207..46734831,2	Hela-S3	cervix:
10	chr16:87350782..87351467-chr3:46734125..46734941,2	Hela-S3	cervix:
11	chr3:46717709..46719534-chr3:46734745..46736639,2	MCF-7	breast:
12	chr17:43393907..43394635-chr3:46734362..46735110,2	Hela-S3	cervix:
13	chr3:46734988..46739707-chr3:46741491..46746249,8	K562	blood:
14	chr3:46735288..46735975-chr3:46746178..46746698,2	K562	blood:
15	chr3:46733050..46735013-chr3:46736523..46739104,3	K562	blood:
16	chr3:46736001..46738313-chr3:46739420..46741660,3	MCF-7	breast:
17	chr3:46733350..46734890-chr3:46932280..46935238,2	MCF-7	breast:
18	chr3:46736421..46738516-chr3:46947579..46949832,2	MCF-7	breast:
19	chr3:46728002..46730865-chr3:46732714..46734493,2	K562	blood:
20	chr3:46733404..46735141-chr3:46748725..46750536,2	MCF-7	breast:
21	chr3:46736085..46739130-chr3:47020544..47022434,3	MCF-7	breast:
22	chr3:46733801..46735413-chr3:46924430..46926212,2	MCF-7	breast:
23	chr3:46733775..46736386-chr3:46933231..46935509,2	MCF-7	breast:
24	chr3:46733050..46735013-chr3:46736523..46739104,3	K562	blood:
25	chr3:46589952..46592593-chr3:46732036..46734467,2	K562	blood:

No data

Variant related genes	Relation type
ALS2CL	TF binding region
ALS2CL	CpG island
ENSG00000201558	chromatin interactions
ENSG00000160799	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000270006	chromatin interactions
ENSG00000260456	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000006062	chromatin interactions
ENSG00000181585	chromatin interactions
ENSG00000178038	chromatin interactions
ENSG00000113558	chromatin interactions
ENSG00000264306	chromatin interactions
ENSG00000160801	chromatin interactions
ENSG00000186432	chromatin interactions
ENSG00000160796	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375148689	chr3:46734178-46734179	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs567373702	chr3:46734221-46734222	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs538416246	chr3:46734338-46734339	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs534709581	chr3:46734375-46734376	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs116966100	chr3:46734391-46734392	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs113393595	chr3:46734412-46734413	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs11718902	chr3:46734441-46734442	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554135397	chr3:46734459-46734460	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs370627983	chr3:46734497-46734498	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs567023352	chr3:46734516-46734517	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs572390505	chr3:46734537-46734538	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs373105125	chr3:46734568-46734569	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs146819178	chr3:46734569-46734570	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs118141941	chr3:46734578-46734579	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs369767804	chr3:46734586-46734587	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs386660749	chr3:46734614-46734615	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs57045725	chr3:46734625-46734626	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs60236667	chr3:46734728-46734729	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs541593506	chr3:46734828-46734829	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs368797771	chr3:46734893-46734894	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs140460349	chr3:46734905-46734906	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs145649892	chr3:46734945-46734946	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs527247133	chr3:46734991-46734992	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs116751098	chr3:46735027-46735028	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs560934135	chr3:46735064-46735065	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs11719061	chr3:46735098-46735099	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550375273	chr3:46735171-46735172	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs116510961	chr3:46735180-46735181	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs539310517	chr3:46735187-46735188	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs547726878	chr3:46735252-46735253	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs566383617	chr3:46735284-46735285	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs368872668	chr3:46735306-46735307	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs386660750	chr3:46735480-46735481	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs6442020	chr3:46735645-46735646	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554576736	chr3:46735646-46735647	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs185538561	chr3:46735659-46735660	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs544662917	chr3:46735722-46735723	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs146625757	chr3:46735744-46735745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs72899363	chr3:46735749-46735750	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577720903	chr3:46735787-46735788	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs545193110	chr3:46735794-46735795	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs560161386	chr3:46735815-46735816	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs35763779	chr3:46735856-46735857	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs113782648	chr3:46735859-46735860	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs376408897	chr3:46735904-46735905	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs189174516	chr3:46735934-46735935	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs560895641	chr3:46735935-46735936	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs192100257	chr3:46736136-46736137	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs112579976	chr3:46736187-46736188	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs34190208	chr3:46736217-46736218	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
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
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46705400-46734400	Weak transcription	Ovary	ovary
2	chr3:46730200-46734400	Weak transcription	Aorta	Aorta
3	chr3:46731200-46734200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:46731600-46734200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:46731600-46734200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:46731800-46734200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:46732000-46734200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:46732000-46734200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:46732000-46734200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:46732000-46734200	Enhancers	Liver	Liver
11	chr3:46732000-46734200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr3:46732000-46734200	Enhancers	Placenta	Placenta
13	chr3:46732000-46734200	Enhancers	Right Atrium	heart
14	chr3:46732000-46734200	Enhancers	Stomach Mucosa	stomach
15	chr3:46732000-46734200	Flanking Active TSS	Hela-S3	cervix
16	chr3:46732000-46734200	Flanking Active TSS	NHEK	skin
17	chr3:46732000-46734400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr3:46732200-46734200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr3:46732200-46734200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:46732200-46734400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:46732200-46734600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:46732600-46734600	Enhancers	Spleen	Spleen
23	chr3:46733200-46734200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:46733400-46734200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:46733400-46734200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr3:46733400-46734400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr3:46733400-46734400	Flanking Active TSS	Esophagus	oesophagus
28	chr3:46733400-46734400	Bivalent Enhancer	Fetal Thymus	thymus
29	chr3:46733400-46734400	Enhancers	Small Intestine	intestine
30	chr3:46733400-46734800	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr3:46733600-46734200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:46733600-46734200	Enhancers	Brain Angular Gyrus	brain
33	chr3:46733600-46734200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr3:46733600-46734200	Flanking Active TSS	HMEC	breast
35	chr3:46733600-46734200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr3:46733600-46734400	Flanking Active TSS	Lung	lung
37	chr3:46733600-46734600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr3:46733600-46735000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr3:46733600-46735000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr3:46733800-46734200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr3:46733800-46734200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
42	chr3:46733800-46734200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:46733800-46734200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr3:46733800-46734200	Enhancers	Gastric	stomach
45	chr3:46733800-46734400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:46733800-46734400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:46733800-46734800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr3:46733800-46735000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr3:46733800-46735000	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr3:46733800-46735000	Flanking Active TSS	Fetal Intestine Small	intestine

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