Variant report

Variant	esv1814724
Chromosome Location	chr7:150067445-150070663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:217)
CpG islands
(count:550)
Chromatin interactive
region (count:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:217 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:150070516-150070994	K562	blood:	n/a	n/a
2	CCNT2	chr7:150069001-150070032	K562	blood:	n/a	n/a
3	CCNT2	chr7:150068740-150068748	K562	blood:	n/a	n/a
4	CEBPB	chr7:150067688-150068137	IMR90	lung:	n/a	n/a
5	CEBPB	chr7:150067666-150068010	HepG2	liver:	n/a	n/a
6	CEBPB	chr7:150067824-150067835	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr7:150067860-150068010	BJ	skin:	n/a	n/a
8	CTCF	chr7:150067780-150067930	HepG2	liver:	n/a	n/a
9	CTCF	chr7:150067880-150068030	AG04449	skin:	n/a	n/a
10	CTCF	chr7:150067780-150067930	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr7:150067880-150068030	AG10803	skin:	n/a	n/a
12	CTCF	chr7:150067960-150068110	AG04450	lung:	n/a	n/a
13	CTCF	chr7:150067800-150067950	AG09309	skin:	n/a	n/a
14	CTCF	chr7:150067940-150068090	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr7:150067920-150068070	BJ	skin:	n/a	n/a
16	CTCF	chr7:150067740-150067890	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr7:150069811-150070335	T-47D	breast:	n/a	n/a
18	CTCF	chr7:150067860-150068010	AG04449	skin:	n/a	n/a
19	CTCF	chr7:150067860-150068010	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr7:150067920-150068070	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr7:150067847-150068017	ProgFib	skin:	n/a	n/a
22	CTCF	chr7:150067780-150067930	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr7:150067840-150067990	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr7:150067880-150068010	Fibrobl	skin:	n/a	n/a
25	CTCF	chr7:150067820-150067970	HAc	cerebellar:	n/a	n/a
26	CTCF	chr7:150067940-150068090	AG10803	skin:	n/a	n/a
27	CTCF	chr7:150067880-150068030	AG09319	gingival:	n/a	n/a
28	CTCF	chr7:150067640-150067790	HRE	kidney:	n/a	n/a
29	CTCF	chr7:150067880-150068030	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr7:150067880-150068030	RPTEC	kidney:	n/a	n/a
31	CTCF	chr7:150067840-150068113	IMR90	lung:	n/a	n/a
32	CTCF	chr7:150067920-150068070	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr7:150067820-150067970	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr7:150067900-150068050	HBMEC	blood vessel:	n/a	n/a
35	ELF1	chr7:150070648-150070970	K562	blood:	n/a	n/a
36	ELF1	chr7:150067129-150067521	GM12878	blood:	n/a	n/a
37	EP300	chr7:150070313-150070625	T-47D	breast:	n/a	n/a
38	HEY1	chr7:150068148-150068341	HepG2	liver:	n/a	n/a
39	HEY1	chr7:150070029-150070412	K562	blood:	n/a	n/a
40	HEY1	chr7:150065020-150068404	K562	blood:	n/a	chr7:150065245-150065260 chr7:150065724-150065739
41	HMGN3	chr7:150069742-150070236	K562	blood:	n/a	n/a
42	HMGN3	chr7:150068871-150069239	K562	blood:	n/a	n/a
43	JUND	chr7:150067726-150068045	HepG2	liver:	n/a	chr7:150067971-150067979
44	MAFK	chr7:150067809-150068201	IMR90	lung:	n/a	n/a
45	MAX	chr7:150070536-150070991	K562	blood:	n/a	n/a
46	MAX	chr7:150067790-150068022	HepG2	liver:	n/a	n/a
47	MAZ	chr7:150070640-150070683	Hela-S3	cervix:	n/a	n/a
48	MAZ	chr7:150070653-150070797	GM12878	blood:	n/a	n/a
49	MAZ	chr7:150070573-150070921	K562	blood:	n/a	n/a
50	MXI1	chr7:150067966-150068040	GM12878	blood:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150068757-150068807	HEEpiC	esophagus:	n/a
2	chr7:150068757-150068807	HEEpiC	esophagus:	n/a
3	chr7:150068240-150068290	HepG2	liver:	n/a
4	chr7:150069577-150069627	NHDF-neo	bronchial:	n/a
5	chr7:150069890-150069940	ProgFib	skin:	n/a
6	chr7:150067896-150067946	LNCaP	prostate:	n/a
7	chr7:150069890-150069940	K562	blood:	n/a
8	chr7:150068757-150068807	HCPEpiC	choroid plexus:	n/a
9	chr7:150069026-150069076	AoSMC	blood vessel:	n/a
10	chr7:150067807-150067857	GM12891	blood:	n/a
11	chr7:150068240-150068290	Jurkat	blood:	n/a
12	chr7:150069707-150069757	HRCEpiC	kidney:	n/a
13	chr7:150068240-150068290	HL-60	blood:	n/a
14	chr7:150069890-150069940	NB4	blood:	n/a
15	chr7:150069707-150069757	NHDF-neo	bronchial:	n/a
16	chr7:150068757-150068807	AoSMC	blood vessel:	n/a
17	chr7:150067712-150067762	LNCaP	prostate:	n/a
18	chr7:150069707-150069757	HAEpiC	amniotic membrane:	n/a
19	chr7:150069026-150069076	BE2_C	brain:	n/a
20	chr7:150067712-150067762	HEEpiC	esophagus:	n/a
21	chr7:150068757-150068807	PFSK-1	brain:	n/a
22	chr7:150067896-150067946	GM12891	blood:	n/a
23	chr7:150067807-150067857	HUVEC	blood vessel:	n/a
24	chr7:150069707-150069757	SKMC	muscle:	n/a
25	chr7:150069707-150069757	HPAEpiC	pulmonary alveolar:	n/a
26	chr7:150068757-150068807	SK-N-MC	brain:	n/a
27	chr7:150069707-150069757	Hepatocyte	liver:	n/a
28	chr7:150067807-150067857	SKMC	muscle:	n/a
29	chr7:150068757-150068807	K562	blood:	n/a
30	chr7:150068240-150068290	HUVEC	blood vessel:	n/a
31	chr7:150069707-150069757	AG04449	skin:	fetal
32	chr7:150067896-150067946	HRPEpiC	eye:	n/a
33	chr7:150069577-150069627	HepG2	liver:	n/a
34	chr7:150067712-150067762	HIPEpiC	eye:	n/a
35	chr7:150069707-150069757	HCPEpiC	choroid plexus:	n/a
36	chr7:150068757-150068807	H1-hESC	embryonic stem cell:	embryo
37	chr7:150068240-150068290	GM12891	blood:	n/a
38	chr7:150067896-150067946	A549	lung:	n/a
39	chr7:150069707-150069757	NB4	blood:	n/a
40	chr7:150067807-150067857	LNCaP	prostate:	n/a
41	chr7:150069707-150069757	AoSMC	blood vessel:	n/a
42	chr7:150067712-150067762	SKMC	muscle:	n/a
43	chr7:150067896-150067946	GM19239	blood:	n/a
44	chr7:150067896-150067946	HEEpiC	esophagus:	n/a
45	chr7:150067896-150067946	HRCEpiC	kidney:	n/a
46	chr7:150067896-150067946	ovcar-3	ovarian:	n/a
47	chr7:150069577-150069627	K562	blood:	n/a
48	chr7:150067896-150067946	HEK293	kidney:	embryo
49	chr7:150067807-150067857	Hela-S3	cervix:	n/a
50	chr7:150068240-150068290	GM06990	blood:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150019286..150021465-chr7:150069323..150073240,4	MCF-7	breast:
2	chr7:150016171..150021897-chr7:150062899..150068795,19	MCF-7	breast:
3	chr7:150019550..150021994-chr7:150069161..150070677,2	K562	blood:
4	chr7:150063876..150080670-chr7:150093696..150109118,65	MCF-7	breast:
5	chr7:149570954..149573807-chr7:150065336..150068583,3	MCF-7	breast:
6	chr7:149552909..149554975-chr7:150070039..150072542,2	MCF-7	breast:
7	chr7:150063752..150069023-chr7:150095376..150104764,21	MCF-7	breast:
8	chr7:150038539..150040315-chr7:150063994..150067487,3	MCF-7	breast:
9	chr7:150064606..150067565-chr7:150746513..150748694,2	MCF-7	breast:
10	chr7:150018458..150023402-chr7:150064103..150067772,7	MCF-7	breast:
11	chr7:150017186..150022141-chr7:150063447..150068849,12	K562	blood:
12	chr7:150017186..150022010-chr7:150063447..150067622,10	K562	blood:
13	chr7:150025749..150027399-chr7:150065902..150067517,2	MCF-7	breast:
14	chr7:150066102..150068231-chr7:150757822..150759698,2	MCF-7	breast:
15	chr7:150026034..150028099-chr7:150070313..150072987,2	K562	blood:
16	chr7:150065484..150068056-chr7:150811875..150813765,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF775-1	chr7:150066760-150067500	NONHSAT124117
2	lnc-ZNF775-1	chr7:150066760-150067691	NONHSAT124115

No data

Variant related genes	Relation type
ENSG00000240449	TF binding region
REPIN1	TF binding region
ENSG00000240449	CpG island
REPIN1	CpG island
ENSG00000171130	chromatin interactions
ENSG00000196456	chromatin interactions
ENSG00000164889	chromatin interactions
ENSG00000261305	chromatin interactions
ENSG00000127399	chromatin interactions
ENSG00000106526	chromatin interactions
ENSG00000106479	chromatin interactions
ENSG00000213199	chromatin interactions
ENSG00000106538	chromatin interactions
ENSG00000188707	chromatin interactions
ENSG00000133612	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4725336	chr7:150067445-150067446	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569697389	chr7:150067455-150067456	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
3	rs529286873	chr7:150067468-150067469	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
4	rs370841349	chr7:150067492-150067493	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
5	rs549646160	chr7:150067504-150067505	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
6	rs7803817	chr7:150067515-150067516	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
7	rs566248912	chr7:150067525-150067526	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
8	rs180697963	chr7:150067543-150067544	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
9	rs558085737	chr7:150067574-150067575	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs571295226	chr7:150067610-150067611	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs7803954	chr7:150067615-150067616	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs3757425	chr7:150067640-150067641	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs3757424	chr7:150067679-150067680	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs185371611	chr7:150067684-150067685	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs3757423	chr7:150067714-150067715	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs553192079	chr7:150067815-150067816	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs575710430	chr7:150067847-150067848	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs189450640	chr7:150067853-150067854	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs545160052	chr7:150068007-150068008	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs181206713	chr7:150068080-150068081	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs530650558	chr7:150068176-150068177	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs543499623	chr7:150068186-150068187	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs186487764	chr7:150068193-150068194	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs368598326	chr7:150068208-150068209	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs562395077	chr7:150068247-150068248	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs191790904	chr7:150068267-150068268	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs141179227	chr7:150068299-150068300	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs552082187	chr7:150068303-150068304	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs111636192	chr7:150068313-150068314	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs571855323	chr7:150068328-150068329	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs372709527	chr7:150068341-150068342	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs537682450	chr7:150068354-150068355	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs550693219	chr7:150068361-150068362	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs3735165	chr7:150068371-150068372	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs577094171	chr7:150068375-150068376	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs369321053	chr7:150068383-150068384	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs536210425	chr7:150068401-150068402	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs552714936	chr7:150068436-150068437	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs201119833	chr7:150068437-150068438	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs200595390	chr7:150068439-150068440	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs541306148	chr7:150068447-150068448	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs538540055	chr7:150068455-150068456	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs183060703	chr7:150068458-150068459	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs559327729	chr7:150068466-150068467	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs35090619	chr7:150068475-150068476	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs375551570	chr7:150068486-150068487	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs11553623	chr7:150068487-150068488	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs199739678	chr7:150068503-150068504	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs370328270	chr7:150068534-150068535	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs201615869	chr7:150068564-150068565	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Congenital long qt syndrome	19214780	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150064600-150067800	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr7:150064800-150067600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:150065000-150068400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:150065400-150073600	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr7:150066000-150067600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:150066200-150067600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:150066200-150067800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr7:150066200-150067800	Flanking Active TSS	Fetal Thymus	thymus
9	chr7:150066200-150068000	Flanking Active TSS	Colonic Mucosa	Colon
10	chr7:150066200-150069200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
11	chr7:150066400-150067600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:150066400-150067600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr7:150066400-150067600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:150066400-150067600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:150066400-150067600	Flanking Active TSS	Liver	Liver
16	chr7:150066400-150067600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr7:150066400-150067600	Flanking Active TSS	HUVEC	blood vessel
18	chr7:150066400-150067800	Flanking Active TSS	NH-A	brain
19	chr7:150066400-150068400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
20	chr7:150066400-150068600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:150066600-150067600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:150066600-150067600	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr7:150066600-150067600	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr7:150066600-150067600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr7:150066600-150067600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
26	chr7:150066600-150067800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:150066600-150067800	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr7:150066600-150067800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:150066600-150067800	Transcr. at gene 5' and 3'	K562	blood
30	chr7:150066600-150068000	Flanking Active TSS	Osteobl	bone
31	chr7:150066600-150068400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
32	chr7:150066800-150067600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:150066800-150067600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:150066800-150067600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:150066800-150067600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:150066800-150067600	Transcr. at gene 5' and 3'	Pancreas	Pancrea
37	chr7:150066800-150067600	Flanking Active TSS	Psoas Muscle	Psoas
38	chr7:150066800-150067600	Flanking Active TSS	NHDF-Ad	bronchial
39	chr7:150066800-150067800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:150066800-150067800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:150066800-150067800	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr7:150066800-150067800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:150066800-150067800	Flanking Active TSS	HSMMtube	muscle
44	chr7:150066800-150067800	Flanking Active TSS	NHLF	lung
45	chr7:150066800-150068000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:150066800-150068000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr7:150066800-150068000	Flanking Active TSS	Fetal Heart	heart
48	chr7:150066800-150068200	Weak transcription	Aorta	Aorta
49	chr7:150066800-150068200	Transcr. at gene 5' and 3'	Thymus	Thymus
50	chr7:150066800-150068200	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links