Variant report

Variant	nsv876743
Chromosome Location	chr3:46716523-46753577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1080)
CpG islands
(count:2198)
Chromatin interactive
region (count:90)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1080 , 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	ATF2	chr3:46746461-46746813	GM12878	blood:	n/a	n/a
2	BACH1	chr3:46735430-46735744	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr3:46734048-46734515	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr3:46746558-46746758	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr3:46720127-46720375	GM12878	blood:	n/a	n/a
6	BATF	chr3:46720130-46720422	GM12878	blood:	n/a	n/a
7	BHLHE40	chr3:46734263-46734269	A549	lung:	n/a	n/a
8	BHLHE40	chr3:46735446-46735593	K562	blood:	n/a	n/a
9	BHLHE40	chr3:46746528-46746852	K562	blood:	n/a	n/a
10	BHLHE40	chr3:46736761-46737392	K562	blood:	n/a	n/a
11	BHLHE40	chr3:46734493-46734748	K562	blood:	n/a	n/a
12	BHLHE40	chr3:46736984-46737365	GM12878	blood:	n/a	n/a
13	BRCA1	chr3:46746485-46746854	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr3:46746586-46746696	HepG2	liver:	n/a	n/a
15	BRCA1	chr3:46734876-46735076	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr3:46746601-46746847	H1-hESC	embryonic stem cell:	n/a	n/a
17	CCNT2	chr3:46734819-46735516	K562	blood:	n/a	n/a
18	CEBPB	chr3:46737591-46737781	HepG2	liver:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
19	CEBPB	chr3:46734030-46734446	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr3:46737567-46737769	K562	blood:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
21	CEBPB	chr3:46746392-46746831	GM12878	blood:	n/a	n/a
22	CEBPB	chr3:46732340-46732540	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr3:46720185-46720372	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr3:46737527-46737719	Hela-S3	cervix:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
25	CHD2	chr3:46746500-46746707	GM12878	blood:	n/a	n/a
26	CHD2	chr3:46733976-46735314	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr3:46734962-46735064	K562	blood:	n/a	n/a
28	CHD2	chr3:46746573-46746830	HepG2	liver:	n/a	n/a
29	CHD2	chr3:46732288-46732555	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr3:46735396-46735559	K562	blood:	n/a	chr3:46735520-46735530 chr3:46735402-46735412
31	CHD2	chr3:46746575-46746904	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr3:46734712-46734921	A549	lung:	n/a	n/a
33	CTCF	chr3:46736780-46736930	NHEK	skin:	n/a	n/a
34	CTCF	chr3:46737223-46737231	Lung_OC	lung:	n/a	n/a
35	CTCF	chr3:46750240-46750390	SAEC	small airway:	n/a	n/a
36	CTCF	chr3:46736840-46736990	AG04449	skin:	n/a	n/a
37	CTCF	chr3:46734920-46735070	GM12873	blood:	n/a	chr3:46735057-46735070
38	CTCF	chr3:46735009-46735168	GM12892	blood:	n/a	chr3:46735057-46735070
39	CTCF	chr3:46746522-46746824	H1-hESC	embryonic stem cell:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
40	CTCF	chr3:46736820-46736970	AG09319	gingival:	n/a	n/a
41	CTCF	chr3:46746917-46747004	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr3:46747640-46747790	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr3:46737168-46737262	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr3:46736759-46737210	GM19238	blood:	n/a	n/a
45	CTCF	chr3:46746600-46746750	GM12866	blood:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
46	CTCF	chr3:46746640-46746790	RPTEC	kidney:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
47	CTCF	chr3:46737920-46738070	SAEC	small airway:	n/a	chr3:46737998-46738011
48	CTCF	chr3:46736775-46736975	MCF-7	breast:	n/a	n/a
49	CTCF	chr3:46746878-46746896	GM10266	blood:	n/a	n/a
50	CTCF	chr3:46746482-46746808	SK-N-SH_RA	brain:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688

(count:2198 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46735335-46735385	MCF-7	breast:	n/a
2	chr3:46719625-46719675	HIPEpiC	eye:	n/a
3	chr3:46735335-46735385	MCF-7	breast:	n/a
4	chr3:46719625-46719675	HIPEpiC	eye:	n/a
5	chr3:46742491-46742541	PANC-1	pancreas:	n/a
6	chr3:46733475-46733525	SKMC	muscle:	n/a
7	chr3:46735454-46735504	SAEC	small airway:	n/a
8	chr3:46735154-46735204	PANC-1	pancreas:	n/a
9	chr3:46742703-46742753	PrEC	prostate:	n/a
10	chr3:46733475-46733525	HAEpiC	amniotic membrane:	n/a
11	chr3:46735338-46735388	HAEpiC	amniotic membrane:	n/a
12	chr3:46735695-46735745	HNPCEpiC	eye:	n/a
13	chr3:46733475-46733525	AG04450	lung:	fetal
14	chr3:46741803-46741853	AG04449	skin:	fetal
15	chr3:46742865-46742915	U87	brain:	n/a
16	chr3:46735319-46735369	T-47D	breast:	n/a
17	chr3:46741803-46741853	HEK293	kidney:	embryo
18	chr3:46720206-46720256	H1-hESC	embryonic stem cell:	embryo
19	chr3:46719625-46719675	NT2-D1	testis:	n/a
20	chr3:46719086-46719136	AoSMC	blood vessel:	n/a
21	chr3:46719086-46719136	HEEpiC	esophagus:	n/a
22	chr3:46727805-46727855	BJ	skin:	n/a
23	chr3:46718979-46719029	RPTEC	kidney:	n/a
24	chr3:46735782-46735832	NHBE	bronchial:	n/a
25	chr3:46718369-46718419	SKMC	muscle:	n/a
26	chr3:46735152-46735202	GM12891	blood:	n/a
27	chr3:46718941-46718991	ECC-1	luminal epithelium:	n/a
28	chr3:46718979-46719029	T-47D	breast:	n/a
29	chr3:46718941-46718991	ovcar-3	ovarian:	n/a
30	chr3:46742898-46742948	MCF-7	breast:	n/a
31	chr3:46746779-46746829	BE2_C	brain:	n/a
32	chr3:46718941-46718991	HEK293	kidney:	embryo
33	chr3:46718941-46718991	HepG2	liver:	n/a
34	chr3:46752152-46752202	T-47D	breast:	n/a
35	chr3:46752152-46752202	HUVEC	blood vessel:	n/a
36	chr3:46752152-46752202	GM12891	blood:	n/a
37	chr3:46735152-46735202	HEK293	kidney:	embryo
38	chr3:46735782-46735832	T-47D	breast:	n/a
39	chr3:46719086-46719136	HMEC	breast:	n/a
40	chr3:46718979-46719029	SK-N-MC	brain:	n/a
41	chr3:46735315-46735365	H1-hESC	embryonic stem cell:	embryo
42	chr3:46735335-46735385	MCF10A-Er-Src	breast:	n/a
43	chr3:46752152-46752202	A549	lung:	n/a
44	chr3:46735782-46735832	PANC-1	pancreas:	n/a
45	chr3:46735154-46735204	HCT-116	colon:	n/a
46	chr3:46741803-46741853	NB4	blood:	n/a
47	chr3:46742865-46742915	BE2_C	brain:	n/a
48	chr3:46752152-46752202	H1-hESC	embryonic stem cell:	embryo
49	chr3:46747930-46747980	AG04450	lung:	fetal
50	chr3:46718369-46718419	HUVEC	blood vessel:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:46719842..46724126-chr3:46725182..46728551,5	MCF-7	breast:
2	chr3:46723115..46726062-chr3:46732632..46735169,2	MCF-7	breast:
3	chr3:46735288..46735975-chr3:46746178..46746698,2	K562	blood:
4	chr3:46746470..46747089-chr3:46944228..46945196,2	K562	blood:
5	chr3:46730164..46732483-chr3:46734488..46736983,2	MCF-7	breast:
6	chr3:46746166..46747117-chr3:46950364..46951554,3	MCF-7	breast:
7	chr3:46736085..46739130-chr3:47020544..47022434,3	MCF-7	breast:
8	chr3:46745401..46748199-chr3:46947346..46950114,2	K562	blood:
9	chr3:46732167..46733968-chr3:46737534..46740232,2	MCF-7	breast:
10	chr3:46717709..46719534-chr3:46734745..46736639,2	MCF-7	breast:
11	chr3:46739910..46741419-chr3:46753549..46755761,2	MCF-7	breast:
12	chr3:46711200..46713596-chr3:46721127..46724340,3	MCF-7	breast:
13	chr3:46719842..46724126-chr3:46725182..46728551,5	MCF-7	breast:
14	chr3:46751695..46753830-chr3:46756302..46759551,4	K562	blood:
15	chr3:46729365..46731831-chr3:46732714..46735067,2	K562	blood:
16	chr3:46723220..46725442-chr3:46727287..46728789,2	K562	blood:
17	chr3:46734988..46739707-chr3:46741491..46746249,8	K562	blood:
18	chr3:46734988..46739707-chr3:46741491..46746249,8	K562	blood:
19	chr3:46733350..46734890-chr3:46932280..46935238,2	MCF-7	breast:
20	chr3:46711657..46716189-chr3:46730133..46733448,4	MCF-7	breast:
21	chr3:46738781..46740669-chr3:46750489..46752316,2	K562	blood:
22	chr3:46746174..46747036-chr3:46933635..46934581,2	MCF-7	breast:
23	chr3:46732249..46733917-chr3:46887547..46889689,2	MCF-7	breast:
24	chr3:46723220..46725442-chr3:46727287..46728789,2	K562	blood:
25	chr3:46727228..46728966-chr3:46733953..46736309,2	MCF-7	breast:
26	chr3:46708885..46711230-chr3:46720885..46722743,2	K562	blood:
27	chr3:46733050..46735013-chr3:46736523..46739104,3	K562	blood:
28	chr3:46736001..46738313-chr3:46739420..46741660,3	MCF-7	breast:
29	chr3:46733404..46735141-chr3:46748725..46750536,2	MCF-7	breast:
30	chr3:46715976..46718963-chr3:46721062..46722912,2	MCF-7	breast:
31	chr17:43393907..43394635-chr3:46734362..46735110,2	Hela-S3	cervix:
32	chr3:46734355..46735316-chr5:133512715..133513418,2	Hela-S3	cervix:
33	chr18:9913950..9914878-chr3:46734098..46734723,2	Hela-S3	cervix:
34	chr3:46743022..46745285-chr3:46747232..46748921,2	MCF-7	breast:
35	chr3:46742077..46744445-chr3:46744916..46748199,4	K562	blood:
36	chr3:46746480..46747149-chr3:46935659..46936387,2	MCF-7	breast:
37	chr3:46728002..46730865-chr3:46732714..46734493,2	K562	blood:
38	chr3:46720178..46722487-chr3:46787613..46789601,2	K562	blood:
39	chr3:46732167..46733968-chr3:46737534..46740232,2	MCF-7	breast:
40	chr3:46733050..46735013-chr3:46736523..46739104,3	K562	blood:
41	chr3:46722742..46724325-chr3:46733459..46735116,2	K562	blood:
42	chr3:46743022..46745285-chr3:46747232..46748921,2	MCF-7	breast:
43	chr3:46722742..46724325-chr3:46733459..46735116,2	K562	blood:
44	chr3:46735218..46737600-chr3:46738787..46741218,2	K562	blood:
45	chr3:46703743..46706705-chr3:46719567..46721829,2	K562	blood:
46	chr3:46727378..46730139-chr3:46733383..46735627,3	MCF-7	breast:
47	chr3:46745129..46746095-chr3:46936433..46937176,2	MCF-7	breast:
48	chr3:46746189..46747162-chr3:46936459..46937309,7	MCF-7	breast:
49	chr3:46751695..46753844-chr3:46756302..46759946,5	K562	blood:
50	chr3:46746227..46747136-chr3:46797879..46798830,2	K562	blood:

No data

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

Extended variants
information (count: 1543 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1543 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7433347	chr3:46716523-46716524	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77265504	chr3:46716587-46716588	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs141887353	chr3:46716588-46716589	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs6442017	chr3:46716597-46716598	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527943649	chr3:46716648-46716649	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369797283	chr3:46716670-46716671	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187378783	chr3:46716740-46716741	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs556941506	chr3:46716741-46716742	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573604419	chr3:46716742-46716743	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs116141680	chr3:46716754-46716755	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs550208144	chr3:46716781-46716782	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192986847	chr3:46716804-46716805	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs536207793	chr3:46716818-46716819	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532663354	chr3:46716826-46716827	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs551255368	chr3:46716851-46716852	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs184880100	chr3:46716879-46716880	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs146471494	chr3:46716902-46716903	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs115141716	chr3:46716966-46716967	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs566911531	chr3:46716967-46716968	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs537405705	chr3:46716969-46716970	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs139144075	chr3:46716996-46716997	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs553114224	chr3:46717002-46717003	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs567296620	chr3:46717023-46717024	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370604751	chr3:46717056-46717057	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535203151	chr3:46717062-46717063	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577636328	chr3:46717064-46717065	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs7635360	chr3:46717065-46717066	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371464505	chr3:46717067-46717068	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs111405232	chr3:46717077-46717078	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368646421	chr3:46717080-46717081	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372702705	chr3:46717088-46717089	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376546103	chr3:46717108-46717109	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150298557	chr3:46717111-46717112	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142447205	chr3:46717117-46717118	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554056115	chr3:46717150-46717151	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375865019	chr3:46717151-46717152	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139670900	chr3:46717165-46717166	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369481274	chr3:46717174-46717175	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs142971127	chr3:46717175-46717176	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs369218283	chr3:46717199-46717200	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs114208841	chr3:46717200-46717201	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs564650907	chr3:46717230-46717231	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs543813505	chr3:46717278-46717279	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs78700651	chr3:46717321-46717322	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs532486877	chr3:46717327-46717328	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs547900641	chr3:46717376-46717377	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs566544173	chr3:46717395-46717396	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs527521239	chr3:46717400-46717401	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs548772738	chr3:46717412-46717413	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs550359150	chr3:46717479-46717480	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding 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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1488 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

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	chr3:46705800-46717000	Weak transcription	Brain Anterior Caudate	brain
6	chr3:46706000-46717400	Weak transcription	Brain Angular Gyrus	brain
7	chr3:46707200-46717000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:46708000-46716600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:46708000-46717200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:46710000-46722000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:46710200-46722800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:46710400-46716800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:46711400-46718400	Weak transcription	Right Atrium	heart
14	chr3:46711400-46726800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:46711400-46730400	Strong transcription	Primary T cells from cord blood	blood
16	chr3:46711400-46731800	Strong transcription	NHEK	skin
17	chr3:46711600-46717200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:46711600-46731000	Strong transcription	Esophagus	oesophagus
19	chr3:46711800-46717400	Strong transcription	Placenta	Placenta
20	chr3:46711800-46731200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:46712000-46717600	Strong transcription	Spleen	Spleen
22	chr3:46712000-46720400	Strong transcription	Lung	lung
23	chr3:46712200-46717200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:46712400-46717200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr3:46712400-46718600	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:46712400-46730600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:46712600-46717400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:46712600-46718200	Strong transcription	Left Ventricle	heart
29	chr3:46713000-46717400	Strong transcription	Right Ventricle	heart
30	chr3:46713000-46732000	Weak transcription	Stomach Mucosa	stomach
31	chr3:46713400-46718200	Strong transcription	Colonic Mucosa	Colon
32	chr3:46714800-46718000	Strong transcription	Adipose Nuclei	Adipose
33	chr3:46714800-46718000	Strong transcription	Aorta	Aorta
34	chr3:46714800-46729600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:46714800-46730400	Strong transcription	HMEC	breast
36	chr3:46715000-46717200	Strong transcription	Pancreas	Pancrea
37	chr3:46715200-46718800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:46715200-46723800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:46715400-46717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:46715400-46731600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:46715600-46718400	Strong transcription	Fetal Stomach	stomach
42	chr3:46715600-46720200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:46715600-46721800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:46715800-46717200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:46715800-46717400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:46715800-46717400	Weak transcription	Gastric	stomach
47	chr3:46715800-46724000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:46716000-46716800	Weak transcription	Liver	Liver
49	chr3:46716000-46717600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:46716000-46732000	Strong transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links