Variant report

Variant	rs8088
Chromosome Location	chr6:117870892-117870893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:117870867..117873766-chr6:117883211..117885985,2	K562	blood:
2	chr6:117868602..117871781-chr6:117879048..117881527,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10457315	0.82[CEU][hapmap]
rs210617	0.82[CEU][hapmap]
rs210618	0.80[ASN][1000 genomes]
rs210619	0.93[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs210620	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs210621	0.81[ASN][1000 genomes]
rs210625	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2134086	0.80[AMR][1000 genomes]
rs2134087	0.82[ASN][1000 genomes]
rs389663	0.91[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs9320608	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9320609	0.93[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.86[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9489217	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117863400-117872200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:117868200-117872000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:117868600-117871000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr6:117868600-117872400	Genic enhancers	NHEK	skin
5	chr6:117868800-117871200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr6:117869000-117871000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:117869400-117871000	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:117869400-117872200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr6:117869600-117871400	Enhancers	Dnd41	blood
10	chr6:117869600-117871800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:117869600-117872000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:117869600-117872000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:117869600-117872200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr6:117869600-117872400	Enhancers	Fetal Thymus	thymus
15	chr6:117869800-117871000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:117869800-117871000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:117869800-117871200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:117869800-117871200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:117869800-117871200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:117869800-117871200	Enhancers	Fetal Kidney	kidney
21	chr6:117869800-117871800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:117869800-117872000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:117869800-117872200	Enhancers	Fetal Lung	lung
24	chr6:117869800-117872400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:117869800-117874200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:117869800-117880000	Weak transcription	Aorta	Aorta
27	chr6:117869800-117880000	Weak transcription	Brain Substantia Nigra	brain
28	chr6:117869800-117882600	Weak transcription	Brain Germinal Matrix	brain
29	chr6:117869800-117883200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:117869800-117884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:117869800-117884400	Weak transcription	Ovary	ovary
32	chr6:117869800-117885200	Weak transcription	Fetal Stomach	stomach
33	chr6:117869800-117889000	Weak transcription	Left Ventricle	heart
34	chr6:117869800-117889400	Weak transcription	Psoas Muscle	Psoas
35	chr6:117869800-117889600	Weak transcription	Colonic Mucosa	Colon
36	chr6:117869800-117894400	Weak transcription	Lung	lung
37	chr6:117869800-117903800	Weak transcription	Spleen	Spleen
38	chr6:117869800-117904000	Weak transcription	Gastric	stomach
39	chr6:117869800-117904000	Weak transcription	Pancreas	Pancrea
40	chr6:117870000-117871800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:117870000-117877000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:117870000-117879800	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:117870000-117881600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr6:117870000-117881800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:117870000-117882600	Weak transcription	Adipose Nuclei	Adipose
46	chr6:117870000-117884200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:117870000-117886800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:117870200-117871000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr6:117870200-117871000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr6:117870200-117871000	Enhancers	Skeletal Muscle Female	skeletal muscle

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