Variant report

Variant	rs7017352
Chromosome Location	chr8:11402224-11402225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11402219-11402269	SK-N-SH	brain:	n/a
2	chr8:11402219-11402269	AG09319	gingival:	n/a
3	chr8:11402219-11402269	T-47D	breast:	n/a
4	chr8:11402219-11402269	HL-60	blood:	n/a
5	chr8:11402219-11402269	PANC-1	pancreas:	n/a
6	chr8:11402219-11402269	HUVEC	blood vessel:	n/a
7	chr8:11402219-11402269	AG09309	skin:	n/a
8	chr8:11402219-11402269	PFSK-1	brain:	n/a
9	chr8:11402219-11402269	HPAEpiC	pulmonary alveolar:	n/a
10	chr8:11402219-11402269	ProgFib	skin:	n/a
11	chr8:11402219-11402269	HMEC	breast:	n/a
12	chr8:11402219-11402269	Hepatocyte	liver:	n/a
13	chr8:11402219-11402269	HCT-116	colon:	n/a
14	chr8:11402219-11402269	HIPEpiC	eye:	n/a
15	chr8:11402219-11402269	H1-hESC	embryonic stem cell:	embryo
16	chr8:11402219-11402269	GM12891	blood:	n/a
17	chr8:11402219-11402269	AG04449	skin:	fetal
18	chr8:11402219-11402269	CMK	blood:	n/a
19	chr8:11402219-11402269	NH-A	brain:	n/a
20	chr8:11402219-11402269	NB4	blood:	n/a
21	chr8:11402219-11402269	HAEpiC	amniotic membrane:	n/a
22	chr8:11402219-11402269	Jurkat	blood:	n/a
23	chr8:11402219-11402269	K562	blood:	n/a
24	chr8:11402219-11402269	GM06990	blood:	n/a
25	chr8:11402219-11402269	NHDF-neo	bronchial:	n/a
26	chr8:11402219-11402269	HNPCEpiC	eye:	n/a
27	chr8:11402219-11402269	GM12878	blood:	n/a
28	chr8:11402219-11402269	ECC-1	luminal epithelium:	n/a
29	chr8:11402219-11402269	SK-N-SH_RA	brain:	n/a
30	chr8:11402219-11402269	NT2-D1	testis:	n/a
31	chr8:11402219-11402269	AG10803	skin:	n/a
32	chr8:11402219-11402269	SK-N-MC	brain:	n/a
33	chr8:11402219-11402269	ovcar-3	ovarian:	n/a
34	chr8:11402219-11402269	HEK293	kidney:	embryo
35	chr8:11402219-11402269	HRE	kidney:	n/a
36	chr8:11402219-11402269	PrEC	prostate:	n/a
37	chr8:11402219-11402269	AG04450	lung:	fetal
38	chr8:11402219-11402269	RPTEC	kidney:	n/a
39	chr8:11402219-11402269	SKMC	muscle:	n/a
40	chr8:11402219-11402269	HCM	heart:	n/a
41	chr8:11402219-11402269	MCF10A-Er-Src	breast:	n/a
42	chr8:11402219-11402269	BE2_C	brain:	n/a
43	chr8:11402219-11402269	GM12892	blood:	n/a
44	chr8:11402219-11402269	SAEC	small airway:	n/a
45	chr8:11402219-11402269	HEEpiC	esophagus:	n/a
46	chr8:11402219-11402269	BJ	skin:	n/a
47	chr8:11402219-11402269	A549	lung:	n/a
48	chr8:11402219-11402269	NHBE	bronchial:	n/a
49	chr8:11402219-11402269	HCF	heart:	n/a
50	chr8:11402219-11402269	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11399538..11402795-chr8:11403672..11407842,3	K562	blood:

No data

Variant related genes	Relation type
BLK	CpG island
ENSG00000136573	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10089316	1.00[CEU][hapmap]
rs17329884	1.00[ASN][1000 genomes]
rs2618461	1.00[ASN][1000 genomes]
rs2618463	1.00[ASN][1000 genomes]
rs2618464	1.00[ASN][1000 genomes]
rs2618466	1.00[ASN][1000 genomes]
rs28374288	1.00[ASN][1000 genomes]
rs6981777	1.00[ASN][1000 genomes]
rs6994605	1.00[ASN][1000 genomes]
rs73663154	1.00[ASN][1000 genomes]
rs73663159	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11392400-11403400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:11398600-11402600	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr8:11400400-11402400	Genic enhancers	Primary B cells from cord blood	blood
5	chr8:11400400-11404800	Weak transcription	Spleen	Spleen
6	chr8:11401200-11402400	Enhancers	GM12878-XiMat	blood
7	chr8:11401200-11406400	Weak transcription	HUVEC	blood vessel
8	chr8:11401800-11403200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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