Variant report

Variant	rs6996153
Chromosome Location	chr8:117887130-117887131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs14795	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs16889074	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs2241981	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap]
rs2241982	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs2289937	0.82[ASW][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap]
rs2921775	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2921784	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap]
rs2921785	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap]
rs2921787	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap]
rs2921788	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2921789	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2921790	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap]
rs2921791	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap]
rs3020109	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs3020111	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs3020123	0.82[MEX][hapmap]
rs3020125	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs3020133	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap]
rs3020174	0.85[JPT][hapmap]
rs3020181	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap]

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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv891408	chr8:117884270-117895239	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 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	chr8:117881200-117887800	Active TSS	GM12878-XiMat	blood
2	chr8:117883600-117887600	Active TSS	HSMMtube	muscle
3	chr8:117884000-117887800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:117884000-117887800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:117884200-117887600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:117884200-117887600	Active TSS	K562	blood
7	chr8:117884400-117887600	Active TSS	Thymus	Thymus
8	chr8:117884400-117887800	Active TSS	A549	lung
9	chr8:117884600-117887400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:117884600-117887400	Active TSS	Hela-S3	cervix
11	chr8:117884600-117887600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr8:117884600-117887600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:117884600-117887600	Active TSS	Aorta	Aorta
14	chr8:117884600-117887600	Active TSS	Fetal Muscle Trunk	muscle
15	chr8:117884600-117887600	Active TSS	Right Atrium	heart
16	chr8:117884600-117887600	Active TSS	HSMM	muscle
17	chr8:117884600-117887800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:117884800-117887400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr8:117884800-117887600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:117884800-117887600	Active TSS	Primary T cells fromperipheralblood	blood
21	chr8:117884800-117887600	Active TSS	Fetal Intestine Large	intestine
22	chr8:117884800-117887600	Active TSS	Fetal Thymus	thymus
23	chr8:117884800-117887600	Active TSS	Right Ventricle	heart
24	chr8:117884800-117887800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:117885000-117887200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:117885000-117887400	Active TSS	Ovary	ovary
27	chr8:117885000-117887400	Active TSS	Placenta Amnion	Placenta Amnion
28	chr8:117885000-117887600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:117885000-117887600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr8:117885000-117887600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:117885000-117887600	Active TSS	Psoas Muscle	Psoas
32	chr8:117885000-117887600	Active TSS	HMEC	breast
33	chr8:117885000-117887600	Active TSS	NHDF-Ad	bronchial
34	chr8:117885000-117887600	Active TSS	NHLF	lung
35	chr8:117885200-117887400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:117885200-117887400	Active TSS	Dnd41	blood
37	chr8:117885200-117887600	Active TSS	Fetal Intestine Small	intestine
38	chr8:117885200-117887600	Active TSS	Placenta	Placenta
39	chr8:117885200-117887800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:117885200-117887800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:117885200-117887800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:117885200-117887800	Active TSS	NHEK	skin
43	chr8:117885400-117887200	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr8:117885400-117887400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:117885400-117887400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr8:117885400-117887400	Active TSS	Brain Germinal Matrix	brain
47	chr8:117885400-117887400	Active TSS	Colon Smooth Muscle	Colon
48	chr8:117885400-117887600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:117885400-117887600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr8:117885400-117887600	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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