Variant report

Variant	rs13250762
Chromosome Location	chr8:95987570-95987571
allele	A/G
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	USF1	chr8:95987542-95987954	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr8:95987551-95987858	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr8:95987511-95987875	H1-hESC	embryonic stem cell:	n/a	chr8:95987609-95987621 chr8:95987610-95987619 chr8:95987609-95987621
4	TCF12	chr8:95987562-95987988	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr8:95987569-95987899	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95959150..95962570-chr8:95985356..95988577,4	MCF-7	breast:
2	chr8:95987041..95987943-chr8:96036619..96037409,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INTS8-5	chr8:95987546-95987643	NONHSAT127813

Variant related genes	Relation type
ENSG00000253528	TF binding region
ENSG00000253878	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10096455	1.00[CHB][hapmap]
rs10098025	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098197	1.00[CHB][hapmap]
rs10111300	1.00[CHB][hapmap]
rs10113545	1.00[CHB][hapmap]
rs1031388	1.00[CHB][hapmap]
rs10504939	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956927	1.00[JPT][hapmap]
rs11776186	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11777353	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11778553	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11779698	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11780130	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781040	1.00[CHB][hapmap]
rs11781397	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11781429	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781757	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782590	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11782617	1.00[JPT][hapmap]
rs11782818	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11783262	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11783522	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11783589	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11783878	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11783941	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11783985	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11784140	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784212	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11784299	1.00[JPT][hapmap]
rs11786021	1.00[JPT][hapmap]
rs11786088	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11786389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11787303	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12056517	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893774	1.00[JPT][hapmap]
rs16917079	1.00[JPT][hapmap]
rs16917081	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16917082	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16917093	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16917102	1.00[JPT][hapmap]
rs16917106	1.00[JPT][hapmap]
rs16917117	1.00[JPT][hapmap]
rs16917224	1.00[CHB][hapmap]
rs17359493	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17665714	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665737	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599711	1.00[CHB][hapmap]
rs28399553	1.00[JPT][hapmap]
rs3802191	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802192	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075834	1.00[JPT][hapmap]
rs4323442	1.00[CHB][hapmap]
rs4345531	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57890591	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58282276	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58314911	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60003497	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61591488	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471505	1.00[CHB][hapmap]
rs6651271	1.00[CHB][hapmap]
rs6986418	1.00[JPT][hapmap]
rs6989591	1.00[JPT][hapmap]
rs7008542	1.00[CHB][hapmap]
rs7009940	1.00[JPT][hapmap]
rs716733	1.00[JPT][hapmap]
rs7834966	1.00[JPT][hapmap]
rs896848	1.00[ASN][1000 genomes]
rs9297950	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised 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	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13250762	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95964400-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:95964600-95992800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:95964800-95999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:95964800-95999600	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:95964800-95999600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:95965000-95999600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:95966000-95993000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:95970600-96000800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:95971600-96000400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:95972400-95994800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:95972600-95987600	Weak transcription	HMEC	breast
12	chr8:95974400-96002000	Weak transcription	Esophagus	oesophagus
13	chr8:95976200-95990000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:95976600-95993200	Weak transcription	Primary T cells from cord blood	blood
15	chr8:95976800-95988800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:95977400-95989600	Weak transcription	Fetal Stomach	stomach
17	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
18	chr8:95977600-96008800	Weak transcription	Brain Germinal Matrix	brain
19	chr8:95980400-95993200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:95980800-95988800	Weak transcription	Primary B cells from cord blood	blood
21	chr8:95980800-95993000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:95980800-95993000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:95980800-95993000	Weak transcription	HSMMtube	muscle
24	chr8:95980800-95993200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:95980800-95999400	Weak transcription	Brain Substantia Nigra	brain
26	chr8:95980800-95999600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:95980800-96000200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:95980800-96000200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:95981000-95988800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:95981000-95993000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:95981000-95993000	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:95981000-95999000	Weak transcription	Adipose Nuclei	Adipose
33	chr8:95981000-95999400	Weak transcription	Left Ventricle	heart
34	chr8:95981000-95999400	Weak transcription	Right Ventricle	heart
35	chr8:95981000-96000200	Weak transcription	NHLF	lung
36	chr8:95981000-96003000	Weak transcription	Fetal Lung	lung
37	chr8:95981200-95987600	Weak transcription	Fetal Thymus	thymus
38	chr8:95981200-95989400	Weak transcription	Fetal Intestine Large	intestine
39	chr8:95981200-95989600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:95981200-95994800	Weak transcription	Brain Anterior Caudate	brain
41	chr8:95981800-95994600	Weak transcription	Fetal Brain Female	brain
42	chr8:95981800-95999600	Weak transcription	Spleen	Spleen
43	chr8:95982000-95993000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:95982400-95993000	Weak transcription	Liver	Liver
45	chr8:95982600-95993000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:95983600-95993200	Weak transcription	K562	blood
47	chr8:95983800-95989800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:95983800-95993000	Weak transcription	Ovary	ovary
49	chr8:95983800-96003600	Weak transcription	Pancreas	Pancrea
50	chr8:95984400-95993200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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