Variant report

Variant	nsv10268
Chromosome Location	chr3:46707169-46736718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:577)
CpG islands
(count:1528)
Chromatin interactive
region (count:75)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:46735430-46735744	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr3:46734048-46734515	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr3:46720127-46720375	GM12878	blood:	n/a	n/a
4	BATF	chr3:46720130-46720422	GM12878	blood:	n/a	n/a
5	BHLHE40	chr3:46734493-46734748	K562	blood:	n/a	n/a
6	BHLHE40	chr3:46735446-46735593	K562	blood:	n/a	n/a
7	BHLHE40	chr3:46734263-46734269	A549	lung:	n/a	n/a
8	BRCA1	chr3:46734876-46735076	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr3:46708976-46709045	Hela-S3	cervix:	n/a	n/a
10	CCNT2	chr3:46734819-46735516	K562	blood:	n/a	n/a
11	CEBPB	chr3:46734030-46734446	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr3:46720185-46720372	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr3:46732340-46732540	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr3:46735396-46735559	K562	blood:	n/a	chr3:46735520-46735530 chr3:46735402-46735412
15	CHD2	chr3:46733976-46735314	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr3:46732288-46732555	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr3:46734962-46735064	K562	blood:	n/a	n/a
18	CREB1	chr3:46734712-46734921	A549	lung:	n/a	n/a
19	CTCF	chr3:46715760-46715910	GM12868	blood:	n/a	n/a
20	CTCF	chr3:46735040-46735190	AG04449	skin:	n/a	chr3:46735057-46735070
21	CTCF	chr3:46734532-46734646	NHEK	skin:	n/a	n/a
22	CTCF	chr3:46735013-46735145	K562	blood:	n/a	chr3:46735057-46735070
23	CTCF	chr3:46715720-46715870	GM12872	blood:	n/a	n/a
24	CTCF	chr3:46715740-46715890	GM12873	blood:	n/a	n/a
25	CTCF	chr3:46715860-46716010	RPTEC	kidney:	n/a	n/a
26	CTCF	chr3:46726980-46727130	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr3:46715800-46715950	HVMF	connective:	n/a	n/a
28	CTCF	chr3:46715760-46715910	NB4	blood:	n/a	n/a
29	CTCF	chr3:46715740-46715890	GM12871	blood:	n/a	n/a
30	CTCF	chr3:46735000-46735150	GM12869	blood:	n/a	chr3:46735057-46735070
31	CTCF	chr3:46735043-46735078	Pancreas_OC	pancreas:	n/a	chr3:46735057-46735070
32	CTCF	chr3:46727130-46727182	HepG2	liver:	n/a	n/a
33	CTCF	chr3:46734820-46734970	AoAF	blood vessel:	n/a	chr3:46734858-46734871
34	CTCF	chr3:46715800-46715950	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr3:46735007-46735144	GM19240	blood:	n/a	chr3:46735057-46735070
36	CTCF	chr3:46715780-46715930	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr3:46715800-46715950	GM12875	blood:	n/a	n/a
38	CTCF	chr3:46727040-46727190	HepG2	liver:	n/a	n/a
39	CTCF	chr3:46715860-46716010	HAc	cerebellar:	n/a	n/a
40	CTCF	chr3:46727088-46727118	GM12891	blood:	n/a	n/a
41	CTCF	chr3:46720199-46720265	GM12892	blood:	n/a	n/a
42	CTCF	chr3:46734974-46735176	NHEK	skin:	n/a	chr3:46735057-46735070
43	CTCF	chr3:46715700-46715850	HCM	heart:	n/a	n/a
44	CTCF	chr3:46712131-46712138	LNCaP	prostate:	n/a	n/a
45	CTCF	chr3:46715762-46715921	Gliobla	brain:	n/a	n/a
46	CTCF	chr3:46715340-46715490	GM12864	blood:	n/a	n/a
47	CTCF	chr3:46715742-46715954	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr3:46734800-46734950	HMEC	breast:	n/a	chr3:46734858-46734871
49	CTCF	chr3:46715820-46715970	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr3:46735820-46735970	GM12872	blood:	n/a	n/a

(count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46735801-46735851	U87	brain:	n/a
2	chr3:46735009-46735059	NHDF-neo	bronchial:	n/a
3	chr3:46733475-46733525	HRPEpiC	eye:	n/a
4	chr3:46735801-46735851	U87	brain:	n/a
5	chr3:46735009-46735059	NHDF-neo	bronchial:	n/a
6	chr3:46733475-46733525	HRPEpiC	eye:	n/a
7	chr3:46719625-46719675	H1-hESC	embryonic stem cell:	embryo
8	chr3:46730941-46730991	AG09309	skin:	n/a
9	chr3:46735009-46735059	HCT-116	colon:	n/a
10	chr3:46718941-46718991	HNPCEpiC	eye:	n/a
11	chr3:46735782-46735832	PrEC	prostate:	n/a
12	chr3:46735695-46735745	ovcar-3	ovarian:	n/a
13	chr3:46720206-46720256	AoSMC	blood vessel:	n/a
14	chr3:46735695-46735745	AoSMC	blood vessel:	n/a
15	chr3:46735154-46735204	HUVEC	blood vessel:	n/a
16	chr3:46735319-46735369	U87	brain:	n/a
17	chr3:46735315-46735365	Caco-2	colon:	n/a
18	chr3:46735009-46735059	HepG2	liver:	n/a
19	chr3:46718941-46718991	SK-N-MC	brain:	n/a
20	chr3:46720206-46720256	SK-N-SH_RA	brain:	n/a
21	chr3:46727805-46727855	SKMC	muscle:	n/a
22	chr3:46715818-46715868	MCF-7	breast:	n/a
23	chr3:46735009-46735059	CMK	blood:	n/a
24	chr3:46735695-46735745	HCM	heart:	n/a
25	chr3:46735315-46735365	HepG2	liver:	n/a
26	chr3:46735782-46735832	T-47D	breast:	n/a
27	chr3:46730941-46730991	T-47D	breast:	n/a
28	chr3:46719625-46719675	K562	blood:	n/a
29	chr3:46719625-46719675	BJ	skin:	n/a
30	chr3:46719625-46719675	U87	brain:	n/a
31	chr3:46735801-46735851	AG09309	skin:	n/a
32	chr3:46718941-46718991	AG04449	skin:	fetal
33	chr3:46719625-46719675	Hepatocyte	liver:	n/a
34	chr3:46718369-46718419	ProgFib	skin:	n/a
35	chr3:46735154-46735204	MCF-7	breast:	n/a
36	chr3:46718369-46718419	HCPEpiC	choroid plexus:	n/a
37	chr3:46734995-46735045	GM12892	blood:	n/a
38	chr3:46718941-46718991	SAEC	small airway:	n/a
39	chr3:46734393-46734443	AG09319	gingival:	n/a
40	chr3:46734995-46735045	GM06990	blood:	n/a
41	chr3:46735335-46735385	ECC-1	luminal epithelium:	n/a
42	chr3:46715818-46715868	HUVEC	blood vessel:	n/a
43	chr3:46735009-46735059	AG10803	skin:	n/a
44	chr3:46735454-46735504	HPAEpiC	pulmonary alveolar:	n/a
45	chr3:46735009-46735059	HRPEpiC	eye:	n/a
46	chr3:46718369-46718419	HCM	heart:	n/a
47	chr3:46735152-46735202	HRCEpiC	kidney:	n/a
48	chr3:46719086-46719136	NH-A	brain:	n/a
49	chr3:46735695-46735745	PrEC	prostate:	n/a
50	chr3:46719834-46719884	BE2_C	brain:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:9913950..9914878-chr3:46734098..46734723,2	Hela-S3	cervix:
2	chr3:46720178..46722487-chr3:46787613..46789601,2	K562	blood:
3	chr3:46723220..46725442-chr3:46727287..46728789,2	K562	blood:
4	chr3:46703743..46706705-chr3:46719567..46721829,2	K562	blood:
5	chr3:46720846..46722573-chr3:46724433..46726635,2	MCF-7	breast:
6	chr3:46706098..46708257-chr3:46728561..46731134,2	MCF-7	breast:
7	chr3:46709508..46711743-chr3:46776427..46778541,2	K562	blood:
8	chr3:46729839..46731563-chr3:46733561..46736406,2	MCF-7	breast:
9	chr3:46711657..46716189-chr3:46730133..46733448,4	MCF-7	breast:
10	chr3:46704379..46706248-chr3:46709727..46711417,3	K562	blood:
11	chr3:46733350..46734890-chr3:46932280..46935238,2	MCF-7	breast:
12	chr3:46589952..46592593-chr3:46732036..46734467,2	K562	blood:
13	chr3:46734355..46735316-chr5:133512715..133513418,2	Hela-S3	cervix:
14	chr3:46727378..46730139-chr3:46733383..46735627,3	MCF-7	breast:
15	chr3:46713668..46715350-chr3:46724195..46726906,2	MCF-7	breast:
16	chr3:46700787..46702922-chr3:46710281..46712322,2	K562	blood:
17	chr3:46707872..46708784-chr3:46734766..46735318,2	MCF-7	breast:
18	chr3:46722742..46724325-chr3:46733459..46735116,2	K562	blood:
19	chr3:46723220..46725442-chr3:46727287..46728789,2	K562	blood:
20	chr3:46720846..46722573-chr3:46724433..46726635,2	MCF-7	breast:
21	chr3:46734848..46735671-chr3:160283077..160283853,2	Hela-S3	cervix:
22	chr3:46720266..46726397-chr3:46730234..46736031,11	MCF-7	breast:
23	chr3:46711200..46713596-chr3:46721127..46724340,3	MCF-7	breast:
24	chr3:46736421..46738516-chr3:46947579..46949832,2	MCF-7	breast:
25	chr3:46724809..46726431-chr3:46731600..46733617,2	K562	blood:
26	chr3:46723115..46726062-chr3:46732632..46735169,2	MCF-7	breast:
27	chr3:46708885..46711230-chr3:46720885..46722743,2	K562	blood:
28	chr3:46707530..46709982-chr3:46711149..46714588,3	K562	blood:
29	chr3:46720300..46721832-chr3:46725360..46727686,2	K562	blood:
30	chr3:46702436..46704815-chr3:46735975..46737913,2	MCF-7	breast:
31	chr3:46650273..46651172-chr3:46707945..46708857,6	MCF-7	breast:
32	chr3:46733404..46735141-chr3:46748725..46750536,2	MCF-7	breast:
33	chr3:46733050..46735013-chr3:46736523..46739104,3	K562	blood:
34	chr3:46730164..46732483-chr3:46734488..46736983,2	MCF-7	breast:
35	chr3:46711200..46713596-chr3:46721127..46724340,3	MCF-7	breast:
36	chr3:46733050..46735013-chr3:46736523..46739104,3	K562	blood:
37	chr3:46727228..46728966-chr3:46733953..46736309,2	MCF-7	breast:
38	chr3:46675056..46675850-chr3:46708207..46708731,2	MCF-7	breast:
39	chr3:46713668..46715350-chr3:46724195..46726906,2	MCF-7	breast:
40	chr1:145382730..145383465-chr3:46734207..46734831,2	Hela-S3	cervix:
41	chr3:46720300..46721832-chr3:46725360..46727686,2	K562	blood:
42	chr3:46706471..46710183-chr3:46732042..46737071,8	MCF-7	breast:
43	chr3:46708885..46711230-chr3:46720885..46722743,2	K562	blood:
44	chr3:46728002..46730865-chr3:46732714..46734493,2	K562	blood:
45	chr3:46707530..46709982-chr3:46711149..46714588,3	K562	blood:
46	chr3:46732249..46733917-chr3:46887547..46889689,2	MCF-7	breast:
47	chr3:46717709..46719534-chr3:46734745..46736639,2	MCF-7	breast:
48	chr16:87350782..87351467-chr3:46734125..46734941,2	Hela-S3	cervix:
49	chr3:46707887..46708803-chr3:46920018..46920840,3	MCF-7	breast:
50	chr3:46719842..46724126-chr3:46725182..46728551,5	MCF-7	breast:

No data

Variant related genes	Relation type
ALS2CL	TF binding region
ALS2CL	CpG island
ENSG00000160796	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000270006	chromatin interactions
ENSG00000181585	chromatin interactions
ENSG00000113558	chromatin interactions
ENSG00000260456	chromatin interactions
ENSG00000178038	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000160799	chromatin interactions
ENSG00000186432	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000160801	chromatin interactions
ENSG00000006062	chromatin interactions
ENSG00000261603	chromatin interactions
ENSG00000264306	chromatin interactions

Extended variants
information (count: 1382 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1382 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4683265	chr3:46707196-46707197	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546949969	chr3:46707202-46707203	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543993608	chr3:46707209-46707210	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139912817	chr3:46707221-46707222	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565482613	chr3:46707224-46707225	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs115211866	chr3:46707229-46707230	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115876504	chr3:46707241-46707242	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540548539	chr3:46707243-46707244	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17079122	chr3:46707244-46707245	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs41320545	chr3:46707322-46707323	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537559616	chr3:46707359-46707360	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141225665	chr3:46707364-46707365	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143519891	chr3:46707377-46707378	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79632122	chr3:46707445-46707446	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs193227204	chr3:46707508-46707509	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73079572	chr3:46707531-46707532	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113717731	chr3:46707587-46707588	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs55672827	chr3:46707645-46707646	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554560524	chr3:46707646-46707647	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372535309	chr3:46707661-46707662	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185585629	chr3:46707673-46707674	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370443807	chr3:46707690-46707691	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374866257	chr3:46707722-46707723	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7650245	chr3:46707754-46707755	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577546861	chr3:46707782-46707783	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530251968	chr3:46707862-46707863	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541723289	chr3:46707877-46707878	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377300746	chr3:46707893-46707894	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72892109	chr3:46707903-46707904	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548666965	chr3:46707923-46707924	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs76489077	chr3:46707941-46707942	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541815644	chr3:46707999-46708000	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190199961	chr3:46708022-46708023	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4683266	chr3:46708082-46708083	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528247263	chr3:46708093-46708094	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552290300	chr3:46708143-46708144	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368114210	chr3:46708162-46708163	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571088701	chr3:46708193-46708194	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371614634	chr3:46708227-46708228	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75236263	chr3:46708246-46708247	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565797815	chr3:46708253-46708254	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140657738	chr3:46708261-46708262	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111405404	chr3:46708264-46708265	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569649277	chr3:46708299-46708300	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373813217	chr3:46708354-46708355	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558712143	chr3:46708409-46708410	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577510044	chr3:46708461-46708462	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541684393	chr3:46708467-46708468	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553539566	chr3:46708480-46708481	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs35635151	chr3:46708532-46708533	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:1062 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46698000-46707600	Weak transcription	Gastric	stomach
2	chr3:46700800-46710400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr3:46701600-46709200	Enhancers	Right Ventricle	heart
4	chr3:46702800-46707200	Weak transcription	Pancreas	Pancrea
5	chr3:46702800-46732400	Weak transcription	Psoas Muscle	Psoas
6	chr3:46703000-46711600	Weak transcription	Esophagus	oesophagus
7	chr3:46703000-46731600	Weak transcription	Hela-S3	cervix
8	chr3:46703400-46707200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr3:46703400-46709400	Enhancers	Left Ventricle	heart
10	chr3:46703800-46709200	Enhancers	Right Atrium	heart
11	chr3:46704200-46708800	Enhancers	Fetal Heart	heart
12	chr3:46704200-46712400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:46705000-46711400	Weak transcription	HMEC	breast
14	chr3:46705200-46708600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:46705400-46707200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:46705400-46707400	Weak transcription	Brain Substantia Nigra	brain
17	chr3:46705400-46707600	Weak transcription	Fetal Intestine Small	intestine
18	chr3:46705400-46711800	Weak transcription	Adipose Nuclei	Adipose
19	chr3:46705400-46711800	Weak transcription	Placenta	Placenta
20	chr3:46705400-46712400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:46705400-46713400	Weak transcription	Colonic Mucosa	Colon
22	chr3:46705400-46715000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:46705400-46732600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:46705400-46734400	Weak transcription	Ovary	ovary
25	chr3:46705600-46710800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:46705800-46707800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr3:46705800-46714600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:46705800-46714800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:46705800-46717000	Weak transcription	Brain Anterior Caudate	brain
30	chr3:46706000-46707200	Weak transcription	Fetal Intestine Large	intestine
31	chr3:46706000-46717400	Weak transcription	Brain Angular Gyrus	brain
32	chr3:46706200-46708000	Weak transcription	Lung	lung
33	chr3:46706200-46709200	Weak transcription	Spleen	Spleen
34	chr3:46706400-46708000	Weak transcription	HSMMtube	muscle
35	chr3:46706800-46707200	Weak transcription	Liver	Liver
36	chr3:46706800-46712200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:46707200-46707400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:46707200-46708000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:46707200-46709000	Enhancers	Liver	Liver
40	chr3:46707200-46709200	Enhancers	Pancreas	Pancrea
41	chr3:46707200-46710800	Enhancers	Fetal Intestine Large	intestine
42	chr3:46707200-46717000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:46707600-46707800	Enhancers	Brain Substantia Nigra	brain
44	chr3:46707600-46707800	Genic enhancers	Fetal Intestine Small	intestine
45	chr3:46707600-46708000	Enhancers	Stomach Smooth Muscle	stomach
46	chr3:46707600-46708600	Enhancers	Colon Smooth Muscle	Colon
47	chr3:46707600-46709000	Enhancers	Gastric	stomach
48	chr3:46707800-46708200	Enhancers	Fetal Muscle Leg	muscle
49	chr3:46707800-46708400	Enhancers	Rectal Smooth Muscle	rectum
50	chr3:46707800-46708800	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links