Variant report

Variant	nsv460525
Chromosome Location	chr3:46728659-46790397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1509)
CpG islands
(count:3115)
Chromatin interactive
region (count:92)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1509 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:46755483-46755920	GM12878	blood:	n/a	n/a
2	ATF2	chr3:46755533-46755773	GM12878	blood:	n/a	n/a
3	ATF2	chr3:46759302-46759627	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr3:46746461-46746813	GM12878	blood:	n/a	n/a
5	ATF3	chr3:46759265-46759598	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr3:46759331-46759550	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr3:46759282-46759598	K562	blood:	n/a	n/a
8	BACH1	chr3:46735430-46735744	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr3:46759334-46759543	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr3:46746558-46746758	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr3:46734048-46734515	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr3:46755589-46755797	GM12878	blood:	n/a	n/a
13	BATF	chr3:46773278-46773701	GM12878	blood:	n/a	n/a
14	BATF	chr3:46755501-46755889	GM12878	blood:	n/a	n/a
15	BATF	chr3:46773261-46773680	GM12878	blood:	n/a	n/a
16	BCL11A	chr3:46755446-46755860	GM12878	blood:	n/a	chr3:46755588-46755601
17	BCL11A	chr3:46755551-46755755	GM12878	blood:	n/a	chr3:46755588-46755601
18	BCL3	chr3:46755447-46755829	GM12878	blood:	n/a	chr3:46755588-46755601
19	BCLAF1	chr3:46759179-46759647	K562	blood:	n/a	n/a
20	BHLHE40	chr3:46736984-46737365	GM12878	blood:	n/a	n/a
21	BHLHE40	chr3:46736761-46737392	K562	blood:	n/a	n/a
22	BHLHE40	chr3:46746528-46746852	K562	blood:	n/a	n/a
23	BHLHE40	chr3:46735446-46735593	K562	blood:	n/a	n/a
24	BHLHE40	chr3:46734493-46734748	K562	blood:	n/a	n/a
25	BHLHE40	chr3:46755577-46755866	GM12878	blood:	n/a	n/a
26	BHLHE40	chr3:46773339-46773653	GM12878	blood:	n/a	n/a
27	BHLHE40	chr3:46759435-46759439	K562	blood:	n/a	n/a
28	BHLHE40	chr3:46734263-46734269	A549	lung:	n/a	n/a
29	BRCA1	chr3:46746586-46746696	HepG2	liver:	n/a	n/a
30	BRCA1	chr3:46746485-46746854	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr3:46746601-46746847	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr3:46755567-46755723	GM12878	blood:	n/a	n/a
33	BRCA1	chr3:46734876-46735076	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr3:46759337-46759615	H1-hESC	embryonic stem cell:	n/a	n/a
35	CBX3	chr3:46759328-46759544	K562	blood:	n/a	n/a
36	CBX3	chr3:46759289-46759662	K562	blood:	n/a	n/a
37	CCNT2	chr3:46759152-46759605	K562	blood:	n/a	n/a
38	CCNT2	chr3:46734819-46735516	K562	blood:	n/a	n/a
39	CEBPB	chr3:46737591-46737781	HepG2	liver:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
40	CEBPB	chr3:46780720-46780724	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr3:46759364-46759565	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr3:46746392-46746831	GM12878	blood:	n/a	n/a
43	CEBPB	chr3:46780721-46781004	HepG2	liver:	n/a	n/a
44	CEBPB	chr3:46737527-46737719	Hela-S3	cervix:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
45	CEBPB	chr3:46734030-46734446	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr3:46732340-46732540	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr3:46737567-46737769	K562	blood:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
48	CHD2	chr3:46746573-46746830	HepG2	liver:	n/a	n/a
49	CHD2	chr3:46732288-46732555	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr3:46759325-46759594	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3115 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46741492-46741542	NT2-D1	testis:	n/a
2	chr3:46759096-46759146	HL-60	blood:	n/a
3	chr3:46752152-46752202	CMK	blood:	n/a
4	chr3:46741492-46741542	GM06990	blood:	n/a
5	chr3:46741492-46741542	NT2-D1	testis:	n/a
6	chr3:46759096-46759146	HL-60	blood:	n/a
7	chr3:46752152-46752202	CMK	blood:	n/a
8	chr3:46741492-46741542	GM06990	blood:	n/a
9	chr3:46752152-46752202	HCM	heart:	n/a
10	chr3:46734393-46734443	K562	blood:	n/a
11	chr3:46778871-46778921	HRE	kidney:	n/a
12	chr3:46735319-46735369	HepG2	liver:	n/a
13	chr3:46747930-46747980	HMEC	breast:	n/a
14	chr3:46742898-46742948	SAEC	small airway:	n/a
15	chr3:46735009-46735059	HRPEpiC	eye:	n/a
16	chr3:46786387-46786437	PFSK-1	brain:	n/a
17	chr3:46735319-46735369	NHDF-neo	bronchial:	n/a
18	chr3:46734995-46735045	Caco-2	colon:	n/a
19	chr3:46755916-46755966	K562	blood:	n/a
20	chr3:46759698-46759748	NHDF-neo	bronchial:	n/a
21	chr3:46759475-46759525	SK-N-SH_RA	brain:	n/a
22	chr3:46735154-46735204	HPAEpiC	pulmonary alveolar:	n/a
23	chr3:46735454-46735504	LNCaP	prostate:	n/a
24	chr3:46741803-46741853	ECC-1	luminal epithelium:	n/a
25	chr3:46730941-46730991	HIPEpiC	eye:	n/a
26	chr3:46741803-46741853	BJ	skin:	n/a
27	chr3:46759472-46759522	HepG2	liver:	n/a
28	chr3:46735335-46735385	AG10803	skin:	n/a
29	chr3:46735454-46735504	HIPEpiC	eye:	n/a
30	chr3:46733475-46733525	GM12891	blood:	n/a
31	chr3:46742865-46742915	AG10803	skin:	n/a
32	chr3:46759656-46759706	CMK	blood:	n/a
33	chr3:46735335-46735385	U87	brain:	n/a
34	chr3:46735338-46735388	BE2_C	brain:	n/a
35	chr3:46743078-46743128	AoSMC	blood vessel:	n/a
36	chr3:46752152-46752202	AoSMC	blood vessel:	n/a
37	chr3:46734995-46735045	IMR90	lung:	fetal
38	chr3:46776775-46776825	SK-N-SH	brain:	n/a
39	chr3:46759475-46759525	GM12892	blood:	n/a
40	chr3:46735782-46735832	HCM	heart:	n/a
41	chr3:46752152-46752202	NHBE	bronchial:	n/a
42	chr3:46787073-46787123	NHBE	bronchial:	n/a
43	chr3:46785957-46786007	GM12892	blood:	n/a
44	chr3:46786387-46786437	AG04449	skin:	fetal
45	chr3:46735454-46735504	HMEC	breast:	n/a
46	chr3:46734995-46735045	HL-60	blood:	n/a
47	chr3:46759438-46759488	HCF	heart:	n/a
48	chr3:46734995-46735045	HCM	heart:	n/a
49	chr3:46759438-46759488	PrEC	prostate:	n/a
50	chr3:46789735-46789785	MCF10A-Er-Src	breast:	n/a

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:46736001..46738313-chr3:46739420..46741660,3	MCF-7	breast:
2	chr3:46733050..46735013-chr3:46736523..46739104,3	K562	blood:
3	chr3:46780314..46782174-chr3:46791450..46793098,2	K562	blood:
4	chr3:46727228..46728966-chr3:46733953..46736309,2	MCF-7	breast:
5	chr3:46736421..46738516-chr3:46947579..46949832,2	MCF-7	breast:
6	chr3:46751310..46753575-chr3:46950623..46952874,2	K562	blood:
7	chr3:46729839..46731563-chr3:46733561..46736406,2	MCF-7	breast:
8	chr3:46774758..46775741-chr3:46797694..46798443,2	K562	blood:
9	chr3:46746461..46747137-chr3:46936122..46936835,3	MCF-7	breast:
10	chr3:46733775..46736386-chr3:46933231..46935509,2	MCF-7	breast:
11	chr3:46733801..46735413-chr3:46924430..46926212,2	MCF-7	breast:
12	chr3:46746174..46747036-chr3:46933635..46934581,2	MCF-7	breast:
13	chr3:46733404..46735141-chr3:46748725..46750536,2	MCF-7	breast:
14	chr18:9913950..9914878-chr3:46734098..46734723,2	Hela-S3	cervix:
15	chr3:46746166..46747117-chr3:46950364..46951554,3	MCF-7	breast:
16	chr3:46788120..46791042-chr3:46798895..46800766,2	K562	blood:
17	chr3:46733350..46734890-chr3:46932280..46935238,2	MCF-7	breast:
18	chr3:46717709..46719534-chr3:46734745..46736639,2	MCF-7	breast:
19	chr3:46671153..46671844-chr3:46736764..46737267,2	MCF-7	breast:
20	chr3:46589952..46592593-chr3:46732036..46734467,2	K562	blood:
21	chr3:46734848..46735671-chr3:160283077..160283853,2	Hela-S3	cervix:
22	chr3:46746470..46747089-chr3:46944228..46945196,2	K562	blood:
23	chr3:46728002..46730865-chr3:46732714..46734493,2	K562	blood:
24	chr3:46702436..46704815-chr3:46735975..46737913,2	MCF-7	breast:
25	chr3:46787160..46789838-chr3:46792836..46795181,2	K562	blood:
26	chr16:87350782..87351467-chr3:46734125..46734941,2	Hela-S3	cervix:
27	chr3:46751695..46753844-chr3:46756302..46759946,5	K562	blood:
28	chr3:46711657..46716189-chr3:46730133..46733448,4	MCF-7	breast:
29	chr3:46720178..46722487-chr3:46787613..46789601,2	K562	blood:
30	chr3:46789741..46793223-chr3:46794604..46798425,5	K562	blood:
31	chr17:43393907..43394635-chr3:46734362..46735110,2	Hela-S3	cervix:
32	chr3:46746540..46747094-chr3:46948369..46948995,2	K562	blood:
33	chr3:46729365..46731831-chr3:46732714..46735067,2	K562	blood:
34	chr3:46739910..46741419-chr3:46753549..46755761,2	MCF-7	breast:
35	chr3:46737124..46738860-chr3:46743430..46745835,2	K562	blood:
36	chr3:46743022..46745285-chr3:46747232..46748921,2	MCF-7	breast:
37	chr3:46746642..46747266-chr3:46889901..46890658,2	MCF-7	breast:
38	chr3:46727378..46730139-chr3:46733383..46735627,3	MCF-7	breast:
39	chr3:46789981..46792010-chr3:46794604..46797550,3	K562	blood:
40	chr1:145382730..145383465-chr3:46734207..46734831,2	Hela-S3	cervix:
41	chr3:46727378..46730139-chr3:46733383..46735627,3	MCF-7	breast:
42	chr3:46745129..46746095-chr3:46936433..46937176,2	MCF-7	breast:
43	chr3:46783774..46785518-chr3:46915413..46918248,2	MCF-7	breast:
44	chr3:46742077..46744445-chr3:46744916..46748199,4	K562	blood:
45	chr3:46764632..46767218-chr3:46782393..46785331,2	K562	blood:
46	chr3:46734355..46735316-chr5:133512715..133513418,2	Hela-S3	cervix:
47	chr3:46746164..46747149-chr3:46950735..46951651,8	K562	blood:
48	chr3:46738781..46740669-chr3:46750489..46752316,2	K562	blood:
49	chr3:46751695..46753830-chr3:46756302..46759551,4	K562	blood:
50	chr3:46743022..46745285-chr3:46747232..46748921,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMIE	TF binding region
PRSS50	TF binding region
ALS2CL	TF binding region
PRSS45	TF binding region
PRSS46	TF binding region
TMIE	CpG island
PRSS50	CpG island
ALS2CL	CpG island
PRSS45	CpG island
PRSS46	CpG island
ENSG00000264306	chromatin interactions
ENSG00000160801	chromatin interactions
ENSG00000186432	chromatin interactions
ENSG00000113558	chromatin interactions
ENSG00000160799	chromatin interactions
ENSG00000188086	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000270006	chromatin interactions
ENSG00000006062	chromatin interactions
ENSG00000178038	chromatin interactions
ENSG00000160796	chromatin interactions
ENSG00000206549	chromatin interactions
ENSG00000261603	chromatin interactions
ENSG00000260456	chromatin interactions
ENSG00000181585	chromatin interactions

Extended variants
information (count: 2385 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2385 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7633016	chr3:46728659-46728660	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544773121	chr3:46728698-46728699	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191210906	chr3:46728699-46728700	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527562174	chr3:46728772-46728773	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs183497341	chr3:46728779-46728780	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs80181760	chr3:46728787-46728788	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531169188	chr3:46728793-46728794	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552180284	chr3:46728880-46728881	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7426833	chr3:46728904-46728905	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564939842	chr3:46728933-46728934	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572587065	chr3:46728980-46728981	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532279589	chr3:46729017-46729018	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547987611	chr3:46729045-46729046	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201614089	chr3:46729084-46729085	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201902307	chr3:46729096-46729097	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540318857	chr3:46729103-46729104	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536939991	chr3:46729123-46729124	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374871845	chr3:46729149-46729150	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77819425	chr3:46729191-46729192	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375236985	chr3:46729192-46729193	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369423580	chr3:46729219-46729220	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78350137	chr3:46729289-46729290	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs72892151	chr3:46729312-46729313	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558546564	chr3:46729393-46729394	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576913550	chr3:46729417-46729418	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34812694	chr3:46729464-46729465	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551064420	chr3:46729471-46729472	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553930796	chr3:46729501-46729502	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113816775	chr3:46729513-46729514	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572188984	chr3:46729521-46729522	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187942790	chr3:46729551-46729552	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560978868	chr3:46729558-46729559	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377174472	chr3:46729561-46729562	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377599484	chr3:46729572-46729573	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200224258	chr3:46729609-46729610	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144978241	chr3:46729610-46729611	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376119152	chr3:46729626-46729627	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543426398	chr3:46729646-46729647	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138023761	chr3:46729649-46729650	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149519981	chr3:46729663-46729664	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371543570	chr3:46729672-46729673	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140466271	chr3:46729680-46729681	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139496961	chr3:46729697-46729698	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547215517	chr3:46729699-46729700	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559406037	chr3:46729729-46729730	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143519761	chr3:46729748-46729749	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7642448	chr3:46729757-46729758	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140182243	chr3:46729767-46729768	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs193007517	chr3:46729786-46729787	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537385044	chr3:46729798-46729799	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Recurrent pregnancy loss	19789632	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1436 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46702800-46732400	Weak transcription	Psoas Muscle	Psoas
2	chr3:46703000-46731600	Weak transcription	Hela-S3	cervix
3	chr3:46705400-46732600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:46705400-46734400	Weak transcription	Ovary	ovary
5	chr3:46711400-46730400	Strong transcription	Primary T cells from cord blood	blood
6	chr3:46711400-46731800	Strong transcription	NHEK	skin
7	chr3:46711600-46731000	Strong transcription	Esophagus	oesophagus
8	chr3:46711800-46731200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:46712400-46730600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:46713000-46732000	Weak transcription	Stomach Mucosa	stomach
11	chr3:46714800-46729600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr3:46714800-46730400	Strong transcription	HMEC	breast
13	chr3:46715400-46731600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:46716000-46732000	Strong transcription	Fetal Intestine Small	intestine
15	chr3:46717400-46733800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:46717800-46733600	Weak transcription	Brain Angular Gyrus	brain
17	chr3:46717800-46734000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:46719200-46732000	Weak transcription	Right Atrium	heart
19	chr3:46719800-46729400	Strong transcription	Spleen	Spleen
20	chr3:46720400-46730200	Strong transcription	Gastric	stomach
21	chr3:46720400-46731800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:46720600-46729400	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:46720600-46733800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:46721000-46730000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:46721200-46730400	Strong transcription	Lung	lung
26	chr3:46721200-46731800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:46721400-46731000	Strong transcription	Pancreas	Pancrea
28	chr3:46721400-46731200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:46722000-46731000	Strong transcription	Fetal Intestine Large	intestine
30	chr3:46722000-46731000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr3:46723000-46730400	Strong transcription	Left Ventricle	heart
32	chr3:46723000-46731600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:46723800-46730000	Strong transcription	Colonic Mucosa	Colon
34	chr3:46723800-46730000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr3:46724200-46732200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr3:46724400-46730000	Strong transcription	Fetal Stomach	stomach
37	chr3:46724400-46730200	Strong transcription	Adipose Nuclei	Adipose
38	chr3:46724600-46729400	Strong transcription	Placenta	Placenta
39	chr3:46725000-46730000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:46725000-46731400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:46725600-46729400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:46725600-46734000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:46725800-46731400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr3:46726200-46732000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:46726800-46729800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:46727600-46729000	Weak transcription	Aorta	Aorta
47	chr3:46727600-46730800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:46727800-46731200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr3:46727800-46732000	Weak transcription	Liver	Liver
50	chr3:46727800-46732200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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