Variant report

Variant	rs7464968
Chromosome Location	chr8:11627049-11627050
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr8:11627033-11627415	HepG2	liver:	n/a	n/a
2	USF1	chr8:11627037-11627319	SK-N-SH_RA	brain:	n/a	n/a
3	MAX	chr8:11626821-11628069	ECC-1	luminal epithelium:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
4	ZNF143	chr8:11626927-11627249	K562	blood:	n/a	chr8:11627105-11627123
5	TAF1	chr8:11626823-11627366	SK-N-SH	brain:	n/a	n/a
6	ELF1	chr8:11627016-11627538	K562	blood:	n/a	n/a
7	CREB1	chr8:11626923-11627497	A549	lung:	n/a	n/a
8	RAD21	chr8:11626898-11627300	SK-N-SH_RA	brain:	n/a	chr8:11627225-11627235 chr8:11627227-11627241
9	POLR2A	chr8:11626865-11627504	HEK293	kidney:	n/a	n/a
10	POLR2A	chr8:11626807-11627571	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:11626743-11627682	H1-hESC	embryonic stem cell:	n/a	n/a
12	NFIC	chr8:11626842-11627458	GM12878	blood:	n/a	n/a
13	REST	chr8:11626864-11627131	A549	lung:	n/a	n/a
14	MAX	chr8:11626804-11628153	A549	lung:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
15	E2F6	chr8:11626818-11627945	K562	blood:	n/a	chr8:11627307-11627317 chr8:11627091-11627100
16	POLR2A	chr8:11626583-11627698	GM18951	blood:	n/a	n/a
17	MYC	chr8:11626923-11628492	K562	blood:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
18	MAX	chr8:11626972-11628385	K562	blood:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
19	ZMIZ1	chr8:11626878-11627430	K562	blood:	n/a	n/a
20	REST	chr8:11626748-11627488	A549	lung:	n/a	chr8:11627240-11627253 chr8:11627243-11627256 chr8:11627243-11627256 chr8:11627465-11627478
21	CHD2	chr8:11626912-11627516	GM12878	blood:	n/a	n/a
22	ZBTB7A	chr8:11626847-11627904	ECC-1	luminal epithelium:	n/a	n/a
23	MYC	chr8:11626938-11628243	NB4	blood:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
24	MYC	chr8:11626797-11628137	A549	lung:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
25	TBL1XR1	chr8:11626920-11627456	K562	blood:	n/a	n/a
26	EGR1	chr8:11626880-11627618	K562	blood:	n/a	chr8:11627221-11627235 chr8:11627031-11627046 chr8:11627368-11627378 chr8:11627091-11627100 chr8:11627313-11627323
27	SP4	chr8:11626864-11627348	H1-hESC	embryonic stem cell:	n/a	chr8:11627128-11627144 chr8:11627126-11627142 chr8:11627141-11627152
28	NRF1	chr8:11626936-11627136	HepG2	liver:	n/a	chr8:11627090-11627101 chr8:11627092-11627101 chr8:11627090-11627104 chr8:11627090-11627101 chr8:11627087-11627101
29	TAF1	chr8:11626864-11627242	Hela-S3	cervix:	n/a	n/a
30	SIN3AK20	chr8:11626988-11627467	K562	blood:	n/a	n/a
31	CTCF	chr8:11626914-11627275	K562	blood:	n/a	chr8:11627225-11627238 chr8:11627107-11627125
32	ZBTB7A	chr8:11626822-11627736	K562	blood:	n/a	n/a
33	EGR1	chr8:11626986-11627506	GM12878	blood:	n/a	chr8:11627221-11627235 chr8:11627031-11627046 chr8:11627368-11627378 chr8:11627091-11627100 chr8:11627313-11627323
34	ELF1	chr8:11626762-11627877	GM12878	blood:	n/a	n/a
35	TBP	chr8:11626868-11627271	GM12878	blood:	n/a	n/a
36	TBL1XR1	chr8:11627005-11627462	GM12878	blood:	n/a	n/a
37	SP1	chr8:11626928-11627402	H1-hESC	embryonic stem cell:	n/a	chr8:11627223-11627232 chr8:11626999-11627013 chr8:11627368-11627380 chr8:11627141-11627153 chr8:11627129-11627139 chr8:11627141-11627153 chr8:11627141-11627152 chr8:11627345-11627358
38	POLR2A	chr8:11626739-11628204	U87	brain:	n/a	n/a
39	POLR2A	chr8:11626878-11627472	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr8:11626407-11627697	GM12892	blood:	n/a	n/a
41	SIN3AK20	chr8:11626906-11627475	SK-N-SH	brain:	n/a	n/a
42	TCF12	chr8:11626760-11628056	A549	lung:	n/a	n/a
43	POLR2A	chr8:11626810-11627696	MCF-7	breast:	n/a	n/a
44	POLR2A	chr8:11626892-11627419	HepG2	liver:	n/a	n/a
45	MAZ	chr8:11626818-11628594	IMR90	lung:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
46	POLR2A	chr8:11626768-11627538	GM12891	blood:	n/a	n/a
47	HEY1	chr8:11626883-11627434	K562	blood:	n/a	n/a
48	POLR2A	chr8:11626861-11627458	HepG2	liver:	n/a	n/a
49	TAF1	chr8:11626917-11627492	HepG2	liver:	n/a	n/a
50	POLR2A	chr8:11626773-11628040	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11627019-11627069	HMEC	breast:	n/a
2	chr8:11627012-11627062	HRCEpiC	kidney:	n/a
3	chr8:11627019-11627069	HEEpiC	esophagus:	n/a
4	chr8:11627012-11627062	NH-A	brain:	n/a
5	chr8:11627012-11627062	NHDF-neo	bronchial:	n/a
6	chr8:11627012-11627062	HMEC	breast:	n/a
7	chr8:11627019-11627069	ECC-1	luminal epithelium:	n/a
8	chr8:11627019-11627069	HRPEpiC	eye:	n/a
9	chr8:11627012-11627062	PrEC	prostate:	n/a
10	chr8:11627019-11627069	MCF-7	breast:	n/a
11	chr8:11627012-11627062	SAEC	small airway:	n/a
12	chr8:11627019-11627069	HPAEpiC	pulmonary alveolar:	n/a
13	chr8:11627019-11627069	HIPEpiC	eye:	n/a
14	chr8:11627019-11627069	BJ	skin:	n/a
15	chr8:11627012-11627062	SK-N-SH	brain:	n/a
16	chr8:11627012-11627062	HCPEpiC	choroid plexus:	n/a
17	chr8:11627012-11627062	HCT-116	colon:	n/a
18	chr8:11627019-11627069	HCT-116	colon:	n/a
19	chr8:11627019-11627069	HCM	heart:	n/a
20	chr8:11627012-11627062	MCF10A-Er-Src	breast:	n/a
21	chr8:11627019-11627069	GM06990	blood:	n/a
22	chr8:11627012-11627062	ProgFib	skin:	n/a
23	chr8:11627019-11627069	AG04449	skin:	fetal
24	chr8:11627012-11627062	ovcar-3	ovarian:	n/a
25	chr8:11627019-11627069	HCPEpiC	choroid plexus:	n/a
26	chr8:11627012-11627062	BJ	skin:	n/a
27	chr8:11627019-11627069	GM19239	blood:	n/a
28	chr8:11627019-11627069	AoSMC	blood vessel:	n/a
29	chr8:11627012-11627062	SK-N-SH_RA	brain:	n/a
30	chr8:11627019-11627069	SK-N-SH_RA	brain:	n/a
31	chr8:11627012-11627062	Caco-2	colon:	n/a
32	chr8:11627019-11627069	HNPCEpiC	eye:	n/a
33	chr8:11627012-11627062	HCM	heart:	n/a
34	chr8:11627019-11627069	H1-hESC	embryonic stem cell:	embryo
35	chr8:11627012-11627062	NHBE	bronchial:	n/a
36	chr8:11627019-11627069	Caco-2	colon:	n/a
37	chr8:11627019-11627069	K562	blood:	n/a
38	chr8:11627012-11627062	Hepatocyte	liver:	n/a
39	chr8:11627012-11627062	H1-hESC	embryonic stem cell:	embryo
40	chr8:11627019-11627069	GM12878	blood:	n/a
41	chr8:11627019-11627069	NHBE	bronchial:	n/a
42	chr8:11627012-11627062	AG09319	gingival:	n/a
43	chr8:11627012-11627062	NT2-D1	testis:	n/a
44	chr8:11627019-11627069	HCF	heart:	n/a
45	chr8:11627012-11627062	AG09309	skin:	n/a
46	chr8:11627019-11627069	HUVEC	blood vessel:	n/a
47	chr8:11627012-11627062	AoSMC	blood vessel:	n/a
48	chr8:11627012-11627062	AG10803	skin:	n/a
49	chr8:11627012-11627062	GM19239	blood:	n/a
50	chr8:11627019-11627069	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
2	chr8:11626986..11628635-chr8:11724070..11726191,2	K562	blood:
3	chr8:11625866..11628884-chr8:11724599..11727626,3	MCF-7	breast:
4	chr8:11625684..11627765-chr8:11645905..11648269,2	K562	blood:
5	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
6	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
7	chr8:11625967..11628744-chr8:11645697..11648212,2	MCF-7	breast:
8	chr8:11626596..11628658-chr8:11659514..11662088,3	K562	blood:
9	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:

Variant related genes	Relation type
NEIL2	TF binding region
NEIL2	CpG island
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000227203	Chromatin interaction
ENSG00000164733	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56296279	1.00[AMR][1000 genomes]
rs60150898	1.00[AMR][1000 genomes]
rs8191671	1.00[AMR][1000 genomes]
rs8191685	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11623800-11627400	Weak transcription	Fetal Heart	heart
2	chr8:11626000-11628200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:11626000-11628200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:11626000-11628200	Active TSS	Lung	lung
5	chr8:11626200-11627600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:11626400-11627400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:11626400-11627400	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr8:11626400-11627600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:11626400-11627600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:11626400-11627600	Active TSS	NHEK	skin
11	chr8:11626400-11627800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:11626400-11627800	Active TSS	Hela-S3	cervix
13	chr8:11626400-11628200	Active TSS	Rectal Smooth Muscle	rectum
14	chr8:11626400-11628200	Active TSS	HSMM	muscle
15	chr8:11626600-11627200	Weak transcription	Small Intestine	intestine
16	chr8:11626600-11627400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:11626600-11627400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:11626600-11627400	Active TSS	Brain Germinal Matrix	brain
19	chr8:11626600-11627400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr8:11626600-11627400	Active TSS	GM12878-XiMat	blood
21	chr8:11626600-11627600	Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:11626600-11627600	Active TSS	Fetal Intestine Small	intestine
23	chr8:11626600-11627600	Active TSS	K562	blood
24	chr8:11626600-11627600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr8:11626600-11627600	Active TSS	NH-A	brain
26	chr8:11626600-11627800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:11626600-11627800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:11626600-11627800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:11626600-11627800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:11626600-11627800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr8:11626600-11627800	Active TSS	Primary T cells from cord blood	blood
32	chr8:11626600-11627800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr8:11626600-11627800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:11626600-11627800	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr8:11626600-11627800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:11626600-11627800	Active TSS	Duodenum Mucosa	Duodenum
37	chr8:11626600-11627800	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr8:11626600-11628000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:11626600-11628000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:11626600-11628000	Active TSS	Fetal Brain Female	brain
41	chr8:11626600-11628000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr8:11626600-11628000	Active TSS	Right Ventricle	heart
43	chr8:11626600-11628000	Active TSS	Osteobl	bone
44	chr8:11626600-11628200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:11626600-11628200	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr8:11626600-11628200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:11626600-11628200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:11626600-11628200	Active TSS	Brain Anterior Caudate	brain
49	chr8:11626600-11628200	Active TSS	Brain Hippocampus Middle	brain
50	chr8:11626600-11628200	Active TSS	Brain Substantia Nigra	brain

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