Variant report

Variant	rs8117
Chromosome Location	chr8:95500924-95500925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95499428..95501847-chr8:95504034..95505927,2	K562	blood:
2	chr8:95487095..95488801-chr8:95500645..95502573,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164944	Chromatin interaction
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10086307	0.96[EUR][1000 genomes]
rs10086311	1.00[EUR][1000 genomes]
rs10087221	1.00[EUR][1000 genomes]
rs10089982	1.00[EUR][1000 genomes]
rs10090029	1.00[EUR][1000 genomes]
rs10090628	0.96[EUR][1000 genomes]
rs10093542	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10094155	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10094298	1.00[EUR][1000 genomes]
rs10094477	1.00[EUR][1000 genomes]
rs10095474	1.00[EUR][1000 genomes]
rs10095883	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10097107	0.96[EUR][1000 genomes]
rs10098298	0.96[EUR][1000 genomes]
rs10098682	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10102139	0.96[EUR][1000 genomes]
rs10103436	0.96[EUR][1000 genomes]
rs10104301	1.00[EUR][1000 genomes]
rs10104637	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10104756	1.00[CEU][hapmap]
rs10104797	0.96[EUR][1000 genomes]
rs10105476	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10106455	0.96[EUR][1000 genomes]
rs10110389	0.96[EUR][1000 genomes]
rs10111251	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs10217108	0.96[EUR][1000 genomes]
rs10441536	1.00[EUR][1000 genomes]
rs10441537	0.96[EUR][1000 genomes]
rs1055798	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12334369	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12334578	0.96[EUR][1000 genomes]
rs12334675	1.00[CEU][hapmap]
rs12334783	1.00[EUR][1000 genomes]
rs12334844	1.00[EUR][1000 genomes]
rs12334990	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12335104	1.00[EUR][1000 genomes]
rs13438933	1.00[EUR][1000 genomes]
rs13438940	1.00[EUR][1000 genomes]
rs13439154	0.96[EUR][1000 genomes]
rs13439558	1.00[EUR][1000 genomes]
rs13439676	1.00[EUR][1000 genomes]
rs2119461	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2381883	1.00[EUR][1000 genomes]
rs28386976	0.96[EUR][1000 genomes]
rs28397924	0.96[EUR][1000 genomes]
rs28406352	1.00[EUR][1000 genomes]
rs28409018	1.00[EUR][1000 genomes]
rs28420254	0.96[EUR][1000 genomes]
rs28436849	1.00[EUR][1000 genomes]
rs28449797	0.96[EUR][1000 genomes]
rs28475734	1.00[EUR][1000 genomes]
rs28480604	1.00[EUR][1000 genomes]
rs28481457	1.00[EUR][1000 genomes]
rs28498495	1.00[EUR][1000 genomes]
rs28502182	1.00[EUR][1000 genomes]
rs28524089	1.00[EUR][1000 genomes]
rs28526027	1.00[EUR][1000 genomes]
rs28539788	0.96[EUR][1000 genomes]
rs28542193	0.96[EUR][1000 genomes]
rs28563951	1.00[EUR][1000 genomes]
rs28564036	1.00[EUR][1000 genomes]
rs28572173	0.96[EUR][1000 genomes]
rs28605692	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs28608052	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28634264	1.00[EUR][1000 genomes]
rs28666401	1.00[EUR][1000 genomes]
rs28681034	0.96[EUR][1000 genomes]
rs28775004	1.00[EUR][1000 genomes]
rs28805925	1.00[EUR][1000 genomes]
rs28829590	1.00[EUR][1000 genomes]
rs28848914	0.96[EUR][1000 genomes]
rs3136421	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4567002	1.00[EUR][1000 genomes]
rs56859277	0.96[EUR][1000 genomes]
rs57897120	0.96[EUR][1000 genomes]
rs6992902	0.96[EUR][1000 genomes]
rs6998829	0.96[EUR][1000 genomes]
rs73695616	0.96[EUR][1000 genomes]
rs73695617	0.96[EUR][1000 genomes]
rs73695619	0.96[EUR][1000 genomes]
rs73695620	0.96[EUR][1000 genomes]
rs73695622	0.96[EUR][1000 genomes]
rs73695624	0.96[EUR][1000 genomes]
rs73698013	0.96[EUR][1000 genomes]
rs7835534	1.00[ASW][hapmap];1.00[GIH][hapmap]
rs9297938	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95488000-95501800	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:95488000-95502200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:95488000-95503600	Weak transcription	NHEK	skin
4	chr8:95488200-95501000	Weak transcription	Hela-S3	cervix
5	chr8:95488200-95507800	Weak transcription	NHLF	lung
6	chr8:95492200-95503000	Weak transcription	HepG2	liver
7	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:95493400-95503600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:95494200-95502000	Weak transcription	Right Ventricle	heart
10	chr8:95495000-95503000	Weak transcription	Aorta	Aorta
11	chr8:95495200-95501000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
14	chr8:95496200-95501400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:95496800-95501000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:95496800-95503600	Weak transcription	A549	lung
17	chr8:95497200-95510600	Weak transcription	Colonic Mucosa	Colon
18	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:95497400-95501000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:95497400-95502200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:95498000-95502000	Weak transcription	K562	blood
22	chr8:95498200-95501000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:95498200-95501000	Weak transcription	Psoas Muscle	Psoas
24	chr8:95498200-95502800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:95498200-95510200	Weak transcription	Gastric	stomach
26	chr8:95498400-95502200	Weak transcription	Fetal Intestine Small	intestine
27	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:95498600-95502400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:95498800-95509400	Weak transcription	Pancreas	Pancrea
30	chr8:95498800-95512200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:95499000-95502000	Weak transcription	Small Intestine	intestine
32	chr8:95499000-95505200	Strong transcription	NHDF-Ad	bronchial
33	chr8:95499200-95502000	Weak transcription	Fetal Brain Male	brain
34	chr8:95499200-95503200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:95499200-95505000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:95499200-95511800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:95499200-95512200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:95499200-95512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:95499200-95514400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:95499200-95515200	Strong transcription	Fetal Thymus	thymus
41	chr8:95499200-95519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:95499200-95519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:95499400-95501000	Strong transcription	Brain Germinal Matrix	brain
44	chr8:95499400-95501200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:95499400-95501800	Strong transcription	HSMM	muscle
46	chr8:95499400-95502200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:95499400-95503600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:95499400-95505200	Strong transcription	Left Ventricle	heart
49	chr8:95499400-95506400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr8:95499400-95506400	Strong transcription	Stomach Smooth Muscle	stomach

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