Variant report

Variant	nsv517929
Chromosome Location	chr2:47217094-47243312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:574)
CpG islands
(count:244)
Chromatin interactive
region (count:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:574 , 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	ARID3A	chr2:47235936-47236155	HepG2	liver:	n/a	n/a
2	BCL3	chr2:47230174-47230491	GM12878	blood:	n/a	n/a
3	BCL3	chr2:47223022-47223394	GM12878	blood:	n/a	chr2:47223220-47223229
4	BCL3	chr2:47224005-47224318	GM12878	blood:	n/a	n/a
5	BCL3	chr2:47223044-47223427	GM12878	blood:	n/a	chr2:47223220-47223229
6	BHLHE40	chr2:47224762-47224882	A549	lung:	n/a	n/a
7	CCNT2	chr2:47232922-47233102	K562	blood:	n/a	n/a
8	CEBPB	chr2:47232915-47233121	K562	blood:	n/a	n/a
9	CEBPB	chr2:47235632-47236166	IMR90	lung:	n/a	n/a
10	CEBPB	chr2:47235871-47236257	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:47236051-47236202	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:47242417-47242617	A549	lung:	n/a	chr2:47242528-47242540
13	CHD2	chr2:47236083-47236174	HepG2	liver:	n/a	n/a
14	CTCF	chr2:47233800-47233950	HBMEC	blood vessel:	n/a	chr2:47233870-47233880 chr2:47233899-47233912
15	CTCF	chr2:47233975-47233977	K562	blood:	n/a	n/a
16	CTCF	chr2:47230440-47230590	HRE	kidney:	n/a	n/a
17	CTCF	chr2:47233780-47233930	HRPEpiC	eye:	n/a	chr2:47233870-47233880 chr2:47233899-47233912
18	CTCF	chr2:47242439-47242720	IMR90	lung:	n/a	n/a
19	CTCF	chr2:47234020-47234170	NHEK	skin:	n/a	n/a
20	CTCF	chr2:47230500-47230650	HRE	kidney:	n/a	n/a
21	CTCF	chr2:47242480-47242630	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr2:47242473-47242660	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr2:47242480-47242630	Caco-2	colon:	n/a	n/a
24	CTCF	chr2:47242460-47242610	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr2:47221440-47221590	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr2:47233802-47233957	GM12891	blood:	n/a	chr2:47233870-47233880 chr2:47233899-47233912
27	CTCF	chr2:47233740-47233890	HepG2	liver:	n/a	chr2:47233870-47233880 chr2:47233742-47233751
28	CTCF	chr2:47242500-47242650	HFF	foreskin:	n/a	n/a
29	CTCF	chr2:47217060-47217210	AG09319	gingival:	n/a	n/a
30	CTCF	chr2:47242480-47242630	HRE	kidney:	n/a	n/a
31	CTCF	chr2:47234343-47234363	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr2:47234120-47234270	HEK293	kidney:	n/a	n/a
33	CTCF	chr2:47242520-47242670	HPF	lung:	n/a	n/a
34	CTCF	chr2:47233800-47233950	GM12871	blood:	n/a	chr2:47233870-47233880 chr2:47233899-47233912
35	CTCF	chr2:47242500-47242650	AG10803	skin:	n/a	n/a
36	CTCF	chr2:47233720-47233870	WERI-Rb-1	eye:	n/a	chr2:47233742-47233751
37	CTCF	chr2:47242460-47242610	HMEC	breast:	n/a	n/a
38	CTCF	chr2:47242460-47242610	AG09309	skin:	n/a	n/a
39	CTCF	chr2:47242560-47242710	HCT-116	colon:	n/a	n/a
40	CTCF	chr2:47234120-47234270	HAc	cerebellar:	n/a	n/a
41	CTCF	chr2:47233800-47233950	K562	blood:	n/a	chr2:47233870-47233880 chr2:47233899-47233912
42	CTCF	chr2:47217220-47217370	BJ	skin:	n/a	n/a
43	CTCF	chr2:47230360-47230510	BE2_C	brain:	n/a	n/a
44	CTCF	chr2:47242480-47242630	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr2:47234060-47234210	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr2:47233821-47233880	GM13977	blood:	n/a	chr2:47233870-47233880
47	CTCF	chr2:47217107-47217271	HepG2	liver:	n/a	n/a
48	CTCF	chr2:47242500-47242650	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr2:47233800-47233950	RPTEC	kidney:	n/a	chr2:47233870-47233880 chr2:47233899-47233912
50	CTCF	chr2:47233872-47233881	MCF-7	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:47236103-47236153	H1-hESC	embryonic stem cell:	embryo
2	chr2:47242277-47242327	Jurkat	blood:	n/a
3	chr2:47242277-47242327	GM12891	blood:	n/a
4	chr2:47230407-47230457	GM12878	blood:	n/a
5	chr2:47242277-47242327	HCPEpiC	choroid plexus:	n/a
6	chr2:47230407-47230457	SK-N-SH	brain:	n/a
7	chr2:47229506-47229556	HCPEpiC	choroid plexus:	n/a
8	chr2:47236103-47236153	HNPCEpiC	eye:	n/a
9	chr2:47230407-47230457	ovcar-3	ovarian:	n/a
10	chr2:47229506-47229556	HRE	kidney:	n/a
11	chr2:47230407-47230457	GM12892	blood:	n/a
12	chr2:47236103-47236153	HCPEpiC	choroid plexus:	n/a
13	chr2:47229506-47229556	K562	blood:	n/a
14	chr2:47242277-47242327	AG10803	skin:	n/a
15	chr2:47229506-47229556	HEK293	kidney:	embryo
16	chr2:47230407-47230457	HepG2	liver:	n/a
17	chr2:47236103-47236153	RPTEC	kidney:	n/a
18	chr2:47236103-47236153	CMK	blood:	n/a
19	chr2:47242277-47242327	K562	blood:	n/a
20	chr2:47236103-47236153	BJ	skin:	n/a
21	chr2:47236103-47236153	A549	lung:	n/a
22	chr2:47242277-47242327	ovcar-3	ovarian:	n/a
23	chr2:47236103-47236153	T-47D	breast:	n/a
24	chr2:47230407-47230457	NHDF-neo	bronchial:	n/a
25	chr2:47229506-47229556	HUVEC	blood vessel:	n/a
26	chr2:47229506-47229556	HIPEpiC	eye:	n/a
27	chr2:47236103-47236153	K562	blood:	n/a
28	chr2:47229506-47229556	LNCaP	prostate:	n/a
29	chr2:47236103-47236153	MCF10A-Er-Src	breast:	n/a
30	chr2:47230407-47230457	MCF-7	breast:	n/a
31	chr2:47229506-47229556	NHDF-neo	bronchial:	n/a
32	chr2:47236103-47236153	AG04450	lung:	fetal
33	chr2:47229506-47229556	ovcar-3	ovarian:	n/a
34	chr2:47229506-47229556	HCT-116	colon:	n/a
35	chr2:47229506-47229556	Hela-S3	cervix:	n/a
36	chr2:47229506-47229556	SK-N-MC	brain:	n/a
37	chr2:47230407-47230457	IMR90	lung:	fetal
38	chr2:47242277-47242327	ECC-1	luminal epithelium:	n/a
39	chr2:47230407-47230457	NT2-D1	testis:	n/a
40	chr2:47229506-47229556	HCM	heart:	n/a
41	chr2:47236103-47236153	NB4	blood:	n/a
42	chr2:47242277-47242327	AoSMC	blood vessel:	n/a
43	chr2:47236103-47236153	IMR90	lung:	fetal
44	chr2:47242277-47242327	HL-60	blood:	n/a
45	chr2:47230407-47230457	HIPEpiC	eye:	n/a
46	chr2:47230407-47230457	HMEC	breast:	n/a
47	chr2:47242277-47242327	AG09309	skin:	n/a
48	chr2:47242277-47242327	AG09319	gingival:	n/a
49	chr2:47229506-47229556	NHBE	bronchial:	n/a
50	chr2:47229506-47229556	RPTEC	kidney:	n/a

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:47167911..47170822-chr2:47219140..47220893,2	K562	blood:
2	chr2:47212292..47217234-chr2:47401238..47405508,6	K562	blood:
3	chr2:47237265..47239220-chr2:47246288..47248060,2	K562	blood:
4	chr2:47226708..47229516-chr2:47234175..47237170,3	K562	blood:
5	chr2:47230553..47232834-chr2:47238826..47240399,2	MCF-7	breast:
6	chr2:47229922..47232405-chr2:47395571..47398538,2	K562	blood:
7	chr2:47230310..47234237-chr2:47240805..47244981,3	K562	blood:
8	chr2:47240964..47242721-chr2:47400024..47402501,2	K562	blood:
9	chr2:47235055..47237269-chr2:47239920..47242362,2	MCF-7	breast:
10	chr2:47144648..47146323-chr2:47215712..47217737,2	MCF-7	breast:
11	chr2:47233787..47236309-chr2:47402824..47405556,2	K562	blood:
12	chr2:47238766..47240614-chr2:47260747..47262492,2	K562	blood:
13	chr2:47217963..47220771-chr2:47222699..47225173,3	MCF-7	breast:
14	chr2:47229613..47231414-chr2:47402235..47404640,2	K562	blood:
15	chr2:47213870..47217482-chr2:47217996..47221953,5	MCF-7	breast:
16	chr2:47222214..47224925-chr2:47225410..47227140,2	K562	blood:
17	chr2:47241809..47243733-chr2:47418133..47419880,2	MCF-7	breast:
18	chr2:47232895..47237077-chr2:47401374..47404385,4	MCF-7	breast:
19	chr2:47215935..47217368-chr2:47549916..47551065,3	K562	blood:
20	chr2:47217963..47220771-chr2:47222699..47225173,3	MCF-7	breast:
21	chr2:47225936..47227575-chr2:47231893..47234305,2	MCF-7	breast:
22	chr2:47211199..47217347-chr2:47399008..47404700,12	K562	blood:
23	chr2:47211854..47216258-chr2:47229137..47232912,5	K562	blood:
24	chr2:47220711..47222484-chr2:47400487..47403204,2	MCF-7	breast:
25	chr2:47227228..47229377-chr2:47229384..47232229,2	K562	blood:
26	chr2:47227819..47229844-chr2:47253559..47255515,2	K562	blood:
27	chr2:47229727..47232211-chr2:47401787..47404061,4	MCF-7	breast:
28	chr2:47235723..47238887-chr2:47238980..47241912,3	MCF-7	breast:
29	chr2:47219377..47221556-chr2:47242383..47245078,2	MCF-7	breast:
30	chr2:47217582..47220459-chr2:47397883..47399743,2	MCF-7	breast:
31	chr2:47220862..47225029-chr2:47401840..47405113,4	K562	blood:
32	chr2:47219071..47219583-chr3:114330969..114331598,2	MCF-7	breast:
33	chr2:47145956..47148459-chr2:47233985..47235692,2	K562	blood:
34	chr2:47237082..47239286-chr2:47241685..47244627,2	K562	blood:
35	chr2:47221588..47225029-chr2:47402062..47405113,5	K562	blood:
36	chr2:47226708..47229516-chr2:47234175..47237170,3	K562	blood:
37	chr2:47214279..47216434-chr2:47222625..47224948,2	MCF-7	breast:
38	chr2:47217153..47219459-chr2:47381872..47383451,2	K562	blood:
39	chr2:47202754..47204715-chr2:47226558..47228586,2	K562	blood:
40	chr2:47230553..47232834-chr2:47238826..47240399,2	MCF-7	breast:
41	chr2:47238189..47239994-chr2:47402899..47405132,2	K562	blood:
42	chr2:47241103..47242640-chr2:47398304..47400059,2	MCF-7	breast:
43	chr2:47210303..47217706-chr2:47402135..47406405,13	MCF-7	breast:
44	chr2:47169747..47171383-chr2:47233270..47235359,2	MCF-7	breast:
45	chr2:47237082..47239286-chr2:47241685..47244627,2	K562	blood:
46	chr2:47225653..47227816-chr2:47235641..47238681,3	MCF-7	breast:
47	chr2:47226060..47229055-chr2:47402454..47404695,2	K562	blood:
48	chr2:47230013..47232096-chr2:47242841..47244981,3	K562	blood:
49	chr2:47168191..47171177-chr2:47214556..47217322,3	MCF-7	breast:
50	chr2:47225653..47227816-chr2:47235641..47238681,3	MCF-7	breast:

No data

Variant related genes	Relation type
TTC7A	TF binding region
TTC7A	CpG island
ENSG00000180398	chromatin interactions
ENSG00000239605	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000068724	chromatin interactions

Extended variants
information (count: 1304 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6753628	chr2:47217094-47217095	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574535821	chr2:47217122-47217123	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs55641002	chr2:47217150-47217151	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563663698	chr2:47217182-47217183	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs138039745	chr2:47217202-47217203	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs182581780	chr2:47217243-47217244	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs564663266	chr2:47217262-47217263	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs149497714	chr2:47217293-47217294	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs566023112	chr2:47217331-47217332	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs547366470	chr2:47217359-47217360	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs188146097	chr2:47217376-47217377	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs192328808	chr2:47217387-47217388	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs34365509	chr2:47217438-47217439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs116127625	chr2:47217476-47217477	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs537101035	chr2:47217495-47217496	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs552095477	chr2:47217507-47217508	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs570665468	chr2:47217514-47217515	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs534506455	chr2:47217536-47217537	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs6739148	chr2:47217562-47217563	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376386835	chr2:47217583-47217584	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs574372328	chr2:47217590-47217591	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs58339504	chr2:47217602-47217603	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371111308	chr2:47217614-47217615	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182636846	chr2:47217626-47217627	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs143979799	chr2:47217649-47217650	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536595978	chr2:47217681-47217682	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs148634739	chr2:47217702-47217703	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144236327	chr2:47217778-47217779	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540814344	chr2:47217797-47217798	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562383668	chr2:47217845-47217846	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147347270	chr2:47217861-47217862	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547877942	chr2:47217887-47217888	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139427348	chr2:47217895-47217896	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112520703	chr2:47217921-47217922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144944650	chr2:47217929-47217930	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372887829	chr2:47217965-47217966	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570428711	chr2:47218010-47218011	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116315829	chr2:47218020-47218021	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546353423	chr2:47218043-47218044	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548815901	chr2:47218047-47218048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568034985	chr2:47218049-47218050	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535326672	chr2:47218088-47218089	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556968145	chr2:47218115-47218116	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs58637066	chr2:47218118-47218119	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535950176	chr2:47218160-47218161	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554691424	chr2:47218161-47218162	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575945443	chr2:47218177-47218178	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs151316274	chr2:47218187-47218188	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs140552847	chr2:47218194-47218195	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562218160	chr2:47218202-47218203	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47196600-47227800	Strong transcription	Dnd41	blood
2	chr2:47208000-47217400	Enhancers	Stomach Mucosa	stomach
3	chr2:47208600-47219200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr2:47209400-47217200	Genic enhancers	NHLF	lung
5	chr2:47209600-47217400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:47209600-47218200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:47211400-47217600	Enhancers	Right Atrium	heart
8	chr2:47211800-47218000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:47211800-47218000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:47212000-47217200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:47212000-47217200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:47212000-47217600	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:47212200-47218200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:47212400-47217600	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:47212600-47217400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:47212800-47217400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:47213000-47217400	Enhancers	Left Ventricle	heart
18	chr2:47213000-47218000	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:47213000-47221600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:47213400-47217400	Enhancers	Pancreas	Pancrea
21	chr2:47213400-47217600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:47213400-47218000	Enhancers	Brain Angular Gyrus	brain
23	chr2:47213600-47217200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:47213800-47217400	Enhancers	Fetal Brain Male	brain
26	chr2:47213800-47218200	Enhancers	Ovary	ovary
27	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:47214200-47217200	Enhancers	Fetal Muscle Leg	muscle
29	chr2:47214200-47221000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:47214200-47221200	Weak transcription	Small Intestine	intestine
31	chr2:47214200-47221600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:47214200-47221600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:47214200-47231000	Weak transcription	K562	blood
34	chr2:47214200-47235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:47214400-47217400	Enhancers	Brain Germinal Matrix	brain
36	chr2:47214400-47217600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:47214600-47217400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr2:47214600-47218400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:47214600-47219200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:47214600-47220000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:47214600-47220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:47214600-47221200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:47214600-47221600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:47214600-47242000	Strong transcription	Thymus	Thymus
45	chr2:47214800-47217600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:47214800-47219000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:47214800-47221600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:47214800-47221600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:47214800-47228600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:47214800-47229000	Strong transcription	Monocytes-CD14+_RO01746	blood

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