Variant report

Variant	rs6987112
Chromosome Location	chr8:99033328-99033329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10098159	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955140	0.85[CEU][hapmap]
rs10955141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955142	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955143	0.85[CEU][hapmap]
rs10955145	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955147	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11559201	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11559202	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11775531	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs11776602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777189	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990341	0.83[ASN][1000 genomes]
rs11991161	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11996042	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11997426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12544193	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12549802	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12549967	1.00[ASN][1000 genomes]
rs12550104	1.00[ASN][1000 genomes]
rs13248865	1.00[ASN][1000 genomes]
rs13254615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255477	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265127	1.00[ASN][1000 genomes]
rs13268951	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13269757	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13270713	0.82[CEU][hapmap]
rs13274382	1.00[ASN][1000 genomes]
rs13279197	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13439743	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896517	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17829645	1.00[JPT][hapmap]
rs2279120	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2290467	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2290468	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2290469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877453	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs3088121	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34139241	1.00[ASN][1000 genomes]
rs34276726	1.00[ASN][1000 genomes]
rs34899856	1.00[ASN][1000 genomes]
rs35170774	0.88[EUR][1000 genomes]
rs35417638	1.00[ASN][1000 genomes]
rs3758031	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55698139	0.87[AFR][1000 genomes]
rs55779959	1.00[ASN][1000 genomes]
rs56137923	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57866232	1.00[ASN][1000 genomes]
rs60324498	1.00[ASN][1000 genomes]
rs68116021	0.83[ASN][1000 genomes]
rs68131553	1.00[ASN][1000 genomes]
rs6985709	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6986891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004993	1.00[ASN][1000 genomes]
rs7012838	1.00[ASN][1000 genomes]
rs7016999	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs71514975	1.00[ASN][1000 genomes]
rs72678742	1.00[ASN][1000 genomes]
rs7835905	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs812	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9918865	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:99020000-99033400	Weak transcription	Left Ventricle	heart
4	chr8:99021200-99053600	Weak transcription	A549	lung
5	chr8:99021400-99033400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:99021400-99043800	Weak transcription	Brain Germinal Matrix	brain
7	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:99023000-99033400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:99023600-99034800	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr8:99023800-99041200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:99024000-99044000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
13	chr8:99024200-99033600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:99024200-99042800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain
16	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
17	chr8:99025000-99052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:99025200-99045400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:99025400-99045200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:99026800-99033400	Weak transcription	Small Intestine	intestine
21	chr8:99026800-99036600	Weak transcription	Lung	lung
22	chr8:99027600-99037400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:99027600-99045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:99028400-99033400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:99028800-99045400	Weak transcription	Fetal Brain Female	brain
26	chr8:99029000-99053600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:99029200-99033400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:99030000-99045000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:99030000-99045200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:99030400-99036800	Weak transcription	Osteobl	bone
31	chr8:99030400-99037400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:99030400-99043200	Weak transcription	Esophagus	oesophagus
33	chr8:99030600-99033400	Weak transcription	Brain Angular Gyrus	brain
34	chr8:99030600-99036600	Weak transcription	Primary T cells from cord blood	blood
35	chr8:99030600-99036600	Weak transcription	Fetal Intestine Large	intestine
36	chr8:99030600-99042600	Weak transcription	Placenta	Placenta
37	chr8:99030600-99053400	Weak transcription	Pancreas	Pancrea
38	chr8:99030600-99056800	Weak transcription	Aorta	Aorta
39	chr8:99030800-99033400	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:99030800-99036800	Weak transcription	Primary B cells from cord blood	blood
41	chr8:99030800-99046400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:99031000-99033400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:99031000-99033400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:99031000-99033400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:99031000-99033600	Weak transcription	Fetal Lung	lung
46	chr8:99031000-99035600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:99031000-99036400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:99031000-99055400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:99031600-99035600	Weak transcription	Fetal Intestine Small	intestine
50	chr8:99032000-99033800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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