Variant report

Variant	esv1847964
Chromosome Location	chr3:46729757-46753976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1011)
CpG islands
(count:1653)
Chromatin interactive
region (count:70)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1011 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

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	BHLHE40	chr3:46736984-46737365	GM12878	blood:	n/a	n/a
6	BHLHE40	chr3:46734263-46734269	A549	lung:	n/a	n/a
7	BHLHE40	chr3:46735446-46735593	K562	blood:	n/a	n/a
8	BHLHE40	chr3:46746528-46746852	K562	blood:	n/a	n/a
9	BHLHE40	chr3:46736761-46737392	K562	blood:	n/a	n/a
10	BHLHE40	chr3:46734493-46734748	K562	blood:	n/a	n/a
11	BRCA1	chr3:46746586-46746696	HepG2	liver:	n/a	n/a
12	BRCA1	chr3:46746601-46746847	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr3:46746485-46746854	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr3:46734876-46735076	Hela-S3	cervix:	n/a	n/a
15	CCNT2	chr3:46734819-46735516	K562	blood:	n/a	n/a
16	CEBPB	chr3:46737527-46737719	Hela-S3	cervix:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
17	CEBPB	chr3:46746392-46746831	GM12878	blood:	n/a	n/a
18	CEBPB	chr3:46734030-46734446	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr3:46737591-46737781	HepG2	liver:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
20	CEBPB	chr3:46737567-46737769	K562	blood:	n/a	chr3:46737680-46737691 chr3:46737682-46737693 chr3:46737680-46737693 chr3:46737682-46737691
21	CEBPB	chr3:46732340-46732540	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr3:46734962-46735064	K562	blood:	n/a	n/a
23	CHD2	chr3:46733976-46735314	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr3:46732288-46732555	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr3:46746500-46746707	GM12878	blood:	n/a	n/a
26	CHD2	chr3:46746573-46746830	HepG2	liver:	n/a	n/a
27	CHD2	chr3:46746575-46746904	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr3:46735396-46735559	K562	blood:	n/a	chr3:46735520-46735530 chr3:46735402-46735412
29	CREB1	chr3:46734712-46734921	A549	lung:	n/a	n/a
30	CTCF	chr3:46746600-46746750	NB4	blood:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
31	CTCF	chr3:46746527-46746822	HUVEC	blood vessel:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
32	CTCF	chr3:46746600-46746750	HBMEC	blood vessel:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
33	CTCF	chr3:46746600-46746750	HepG2	liver:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
34	CTCF	chr3:46746396-46746412	GM10266	blood:	n/a	n/a
35	CTCF	chr3:46746392-46746939	MCF-7	breast:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
36	CTCF	chr3:46750120-46750270	MCF-7	breast:	n/a	n/a
37	CTCF	chr3:46736940-46737090	HCM	heart:	n/a	n/a
38	CTCF	chr3:46746600-46746750	WERI-Rb-1	eye:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
39	CTCF	chr3:46750120-46750270	HMEC	breast:	n/a	n/a
40	CTCF	chr3:46746524-46746798	MCF-7	breast:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
41	CTCF	chr3:46737920-46738070	SAEC	small airway:	n/a	chr3:46737998-46738011
42	CTCF	chr3:46746600-46746750	Hela-S3	cervix:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
43	CTCF	chr3:46736760-46736910	AG04450	lung:	n/a	n/a
44	CTCF	chr3:46734260-46734410	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr3:46746953-46747013	GM12892	blood:	n/a	n/a
46	CTCF	chr3:46746525-46746830	Medullo	brain:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
47	CTCF	chr3:46736820-46736970	MCF-7	breast:	n/a	n/a
48	CTCF	chr3:46746484-46746841	GM19239	blood:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688
49	CTCF	chr3:46736800-46736950	GM12870	blood:	n/a	n/a
50	CTCF	chr3:46746620-46746770	HEEpiC	esophagus:	n/a	chr3:46746671-46746689 chr3:46746673-46746694 chr3:46746672-46746688

(count:1653 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46742703-46742753	HUVEC	blood vessel:	n/a
2	chr3:46743078-46743128	BE2_C	brain:	n/a
3	chr3:46742898-46742948	PFSK-1	brain:	n/a
4	chr3:46747930-46747980	HL-60	blood:	n/a
5	chr3:46747930-46747980	U87	brain:	n/a
6	chr3:46742865-46742915	HCF	heart:	n/a
7	chr3:46742703-46742753	HUVEC	blood vessel:	n/a
8	chr3:46743078-46743128	BE2_C	brain:	n/a
9	chr3:46742898-46742948	PFSK-1	brain:	n/a
10	chr3:46747930-46747980	HL-60	blood:	n/a
11	chr3:46747930-46747980	U87	brain:	n/a
12	chr3:46742865-46742915	HCF	heart:	n/a
13	chr3:46735338-46735388	HRE	kidney:	n/a
14	chr3:46735319-46735369	GM06990	blood:	n/a
15	chr3:46735319-46735369	HEK293	kidney:	embryo
16	chr3:46735315-46735365	ovcar-3	ovarian:	n/a
17	chr3:46747930-46747980	K562	blood:	n/a
18	chr3:46735315-46735365	NH-A	brain:	n/a
19	chr3:46735338-46735388	K562	blood:	n/a
20	chr3:46747930-46747980	BJ	skin:	n/a
21	chr3:46734995-46735045	SAEC	small airway:	n/a
22	chr3:46735335-46735385	MCF10A-Er-Src	breast:	n/a
23	chr3:46741803-46741853	AG04449	skin:	fetal
24	chr3:46735454-46735504	HPAEpiC	pulmonary alveolar:	n/a
25	chr3:46735782-46735832	SK-N-MC	brain:	n/a
26	chr3:46742898-46742948	GM12891	blood:	n/a
27	chr3:46743078-46743128	MCF-7	breast:	n/a
28	chr3:46735695-46735745	Hela-S3	cervix:	n/a
29	chr3:46735009-46735059	HUVEC	blood vessel:	n/a
30	chr3:46735338-46735388	AG09319	gingival:	n/a
31	chr3:46735454-46735504	HMEC	breast:	n/a
32	chr3:46733475-46733525	HNPCEpiC	eye:	n/a
33	chr3:46730941-46730991	NHDF-neo	bronchial:	n/a
34	chr3:46741492-46741542	HRPEpiC	eye:	n/a
35	chr3:46743078-46743128	HCT-116	colon:	n/a
36	chr3:46742491-46742541	GM06990	blood:	n/a
37	chr3:46735009-46735059	HCF	heart:	n/a
38	chr3:46752152-46752202	AG10803	skin:	n/a
39	chr3:46734995-46735045	GM06990	blood:	n/a
40	chr3:46730941-46730991	PFSK-1	brain:	n/a
41	chr3:46735338-46735388	HMEC	breast:	n/a
42	chr3:46735154-46735204	LNCaP	prostate:	n/a
43	chr3:46742491-46742541	RPTEC	kidney:	n/a
44	chr3:46735695-46735745	SK-N-SH	brain:	n/a
45	chr3:46735154-46735204	GM12892	blood:	n/a
46	chr3:46735335-46735385	HMEC	breast:	n/a
47	chr3:46743199-46743249	T-47D	breast:	n/a
48	chr3:46743078-46743128	HPAEpiC	pulmonary alveolar:	n/a
49	chr3:46742491-46742541	SK-N-MC	brain:	n/a
50	chr3:46741492-46741542	HCPEpiC	choroid plexus:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:46476162..46478897-chr3:46745088..46748069,2	K562	blood:
2	chr3:46730164..46732483-chr3:46734488..46736983,2	MCF-7	breast:
3	chr3:46746749..46747355-chr3:47039353..47040339,2	MCF-7	breast:
4	chr3:46735218..46737600-chr3:46738787..46741218,2	K562	blood:
5	chr3:46743022..46745285-chr3:46747232..46748921,2	MCF-7	breast:
6	chr3:46746540..46747094-chr3:46948369..46948995,2	K562	blood:
7	chr3:46748228..46751973-chr3:46757589..46759527,3	MCF-7	breast:
8	chr3:46739910..46741419-chr3:46753549..46755761,2	MCF-7	breast:
9	chr3:46732167..46733968-chr3:46737534..46740232,2	MCF-7	breast:
10	chr3:46734355..46735316-chr5:133512715..133513418,2	Hela-S3	cervix:
11	chr3:46751695..46753844-chr3:46756302..46759946,5	K562	blood:
12	chr17:43393907..43394635-chr3:46734362..46735110,2	Hela-S3	cervix:
13	chr3:46746461..46747137-chr3:46936122..46936835,3	MCF-7	breast:
14	chr3:46733775..46736386-chr3:46933231..46935509,2	MCF-7	breast:
15	chr3:46738781..46740669-chr3:46750489..46752316,2	K562	blood:
16	chr3:46727378..46730139-chr3:46733383..46735627,3	MCF-7	breast:
17	chr3:46746240..46747607-chr3:46936343..46937490,8	K562	blood:
18	chr3:46727378..46730139-chr3:46733383..46735627,3	MCF-7	breast:
19	chr3:46702436..46704815-chr3:46735975..46737913,2	MCF-7	breast:
20	chr1:145382730..145383465-chr3:46734207..46734831,2	Hela-S3	cervix:
21	chr3:46743022..46745285-chr3:46747232..46748921,2	MCF-7	breast:
22	chr3:46733404..46735141-chr3:46748725..46750536,2	MCF-7	breast:
23	chr3:46746470..46747089-chr3:46944228..46945196,2	K562	blood:
24	chr3:46746189..46747162-chr3:46936459..46937309,7	MCF-7	breast:
25	chr3:46746642..46747266-chr3:46889901..46890658,2	MCF-7	breast:
26	chr3:46745129..46746095-chr3:46936433..46937176,2	MCF-7	breast:
27	chr16:87350782..87351467-chr3:46734125..46734941,2	Hela-S3	cervix:
28	chr3:46742077..46744445-chr3:46744916..46748199,4	K562	blood:
29	chr3:46711657..46716189-chr3:46730133..46733448,4	MCF-7	breast:
30	chr3:46732167..46733968-chr3:46737534..46740232,2	MCF-7	breast:
31	chr3:46738781..46740669-chr3:46750489..46752316,2	K562	blood:
32	chr3:46746227..46747136-chr3:46797879..46798830,2	K562	blood:
33	chr3:46728002..46730865-chr3:46732714..46734493,2	K562	blood:
34	chr3:46746174..46747036-chr3:46933635..46934581,2	MCF-7	breast:
35	chr3:46746480..46747149-chr3:46935659..46936387,2	MCF-7	breast:
36	chr3:46735288..46735975-chr3:46746178..46746698,2	K562	blood:
37	chr18:9913950..9914878-chr3:46734098..46734723,2	Hela-S3	cervix:
38	chr3:46736001..46738313-chr3:46739420..46741660,3	MCF-7	breast:
39	chr3:46729365..46731831-chr3:46732714..46735067,2	K562	blood:
40	chr3:46733050..46735013-chr3:46736523..46739104,3	K562	blood:
41	chr3:46734988..46739707-chr3:46741491..46746249,8	K562	blood:
42	chr3:46736421..46738516-chr3:46947579..46949832,2	MCF-7	breast:
43	chr3:46589952..46592593-chr3:46732036..46734467,2	K562	blood:
44	chr3:46746279..46747291-chr3:46951057..46951891,3	MCF-7	breast:
45	chr3:46724809..46726431-chr3:46731600..46733617,2	K562	blood:
46	chr3:46717709..46719534-chr3:46734745..46736639,2	MCF-7	breast:
47	chr3:46737124..46738860-chr3:46743430..46745835,2	K562	blood:
48	chr3:46722742..46724325-chr3:46733459..46735116,2	K562	blood:
49	chr3:46745401..46748199-chr3:46947346..46950114,2	K562	blood:
50	chr3:46671153..46671844-chr3:46736764..46737267,2	MCF-7	breast:

No data

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

Extended variants
information (count: 881 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	rs552134733	chr3:46729802-46729803	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112038803	chr3:46729829-46729830	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114090382	chr3:46729886-46729887	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534786454	chr3:46729888-46729889	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553152387	chr3:46729911-46729912	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs574880988	chr3:46729987-46729988	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34510986	chr3:46730021-46730022	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34411733	chr3:46730039-46730040	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12496585	chr3:46730063-46730064	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs56358528	chr3:46730067-46730068	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576383381	chr3:46730073-46730074	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116492001	chr3:46730079-46730080	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185721279	chr3:46730085-46730086	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs58095998	chr3:46730111-46730112	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541023189	chr3:46730239-46730240	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559153428	chr3:46730282-46730283	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142176596	chr3:46730334-46730335	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534895309	chr3:46730381-46730382	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542044796	chr3:46730422-46730423	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563570741	chr3:46730434-46730435	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531108821	chr3:46730446-46730447	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs151053347	chr3:46730452-46730453	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111760691	chr3:46730455-46730456	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200013512	chr3:46730544-46730545	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147108884	chr3:46730546-46730547	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10626746	chr3:46730547-46730548	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112470412	chr3:46730548-46730549	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113675109	chr3:46730549-46730550	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189944565	chr3:46730574-46730575	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs6776464	chr3:46730580-46730581	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181746381	chr3:46730588-46730589	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568428567	chr3:46730602-46730603	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535971681	chr3:46730618-46730619	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112583669	chr3:46730633-46730634	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554463784	chr3:46730674-46730675	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538190211	chr3:46730680-46730681	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4076927	chr3:46730749-46730750	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs373226415	chr3:46730790-46730791	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368337091	chr3:46730791-46730792	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs143702641	chr3:46730829-46730830	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs59661801	chr3:46730845-46730846	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558840783	chr3:46730857-46730858	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200043224	chr3:46730859-46730860	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201245962	chr3:46730861-46730862	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370616508	chr3:46730871-46730872	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs147022145	chr3:46730877-46730878	Weak transcription Strong transcription Enhancers Genic 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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1269 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

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	chr3:46714800-46730400	Strong transcription	HMEC	breast
12	chr3:46715400-46731600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:46716000-46732000	Strong transcription	Fetal Intestine Small	intestine
14	chr3:46717400-46733800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:46717800-46733600	Weak transcription	Brain Angular Gyrus	brain
16	chr3:46717800-46734000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:46719200-46732000	Weak transcription	Right Atrium	heart
18	chr3:46720400-46730200	Strong transcription	Gastric	stomach
19	chr3:46720400-46731800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:46720600-46733800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:46721000-46730000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:46721200-46730400	Strong transcription	Lung	lung
23	chr3:46721200-46731800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:46721400-46731000	Strong transcription	Pancreas	Pancrea
25	chr3:46721400-46731200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:46722000-46731000	Strong transcription	Fetal Intestine Large	intestine
27	chr3:46722000-46731000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr3:46723000-46730400	Strong transcription	Left Ventricle	heart
29	chr3:46723000-46731600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:46723800-46730000	Strong transcription	Colonic Mucosa	Colon
31	chr3:46723800-46730000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr3:46724200-46732200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:46724400-46730000	Strong transcription	Fetal Stomach	stomach
34	chr3:46724400-46730200	Strong transcription	Adipose Nuclei	Adipose
35	chr3:46725000-46730000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:46725000-46731400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:46725600-46734000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:46725800-46731400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr3:46726200-46732000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:46726800-46729800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:46727600-46730800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:46727800-46731200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:46727800-46732000	Weak transcription	Liver	Liver
44	chr3:46727800-46732200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:46727800-46732400	Weak transcription	Thymus	Thymus
46	chr3:46727800-46734000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:46728000-46731000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr3:46728600-46732200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:46728800-46730200	Strong transcription	Right Ventricle	heart
50	chr3:46729000-46730000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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