Variant report

Variant	rs2099788
Chromosome Location	chr8:95515004-95515005
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1023766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1372047	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1866845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2019783	0.81[JPT][hapmap]
rs2046666	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2119460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2246066	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2381830	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2381831	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445721	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2450558	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2470739	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2470740	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2470742	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2515100	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2515153	1.00[CHB][hapmap]
rs2515165	1.00[CHB][hapmap]
rs2919654	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2921385	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2921387	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2930967	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2930969	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3098707	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3098708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3098709	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3098712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3098715	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3098716	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098719	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098725	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3099398	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs3099403	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3099404	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3099406	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3099407	1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes]
rs3099412	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3099413	0.84[EUR][1000 genomes]
rs3102841	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102845	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3102855	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3102859	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3102862	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3102874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3102877	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3133635	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3133637	0.92[EUR][1000 genomes]
rs3133640	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3133645	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3133648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3133649	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3133651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3133656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3133657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3133658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs935052	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs957446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
4	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:95499200-95515200	Strong transcription	Fetal Thymus	thymus
7	chr8:95499200-95519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:95499200-95519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:95499400-95519000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:95499400-95519000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
12	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:95499600-95515400	Strong transcription	Liver	Liver
14	chr8:95500200-95519000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:95500400-95524600	Weak transcription	Stomach Mucosa	stomach
16	chr8:95501200-95541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:95502600-95516800	Weak transcription	Fetal Heart	heart
18	chr8:95502600-95517200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:95502600-95517200	Weak transcription	Small Intestine	intestine
20	chr8:95503400-95517200	Weak transcription	Spleen	Spleen
21	chr8:95504000-95516400	Weak transcription	Right Ventricle	heart
22	chr8:95504000-95521800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:95504000-95522000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:95504200-95516600	Weak transcription	Fetal Brain Male	brain
25	chr8:95504400-95523400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:95505000-95517200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:95505400-95516200	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:95505400-95517200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:95505600-95521600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:95506000-95522000	Weak transcription	HMEC	breast
31	chr8:95506400-95516400	Weak transcription	Hela-S3	cervix
32	chr8:95506400-95516600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:95507400-95516400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr8:95508200-95517400	Weak transcription	Psoas Muscle	Psoas
35	chr8:95508400-95516400	Weak transcription	GM12878-XiMat	blood
36	chr8:95508600-95516600	Weak transcription	K562	blood
37	chr8:95508600-95518200	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:95508800-95516400	Weak transcription	HSMMtube	muscle
39	chr8:95508800-95516600	Weak transcription	Brain Anterior Caudate	brain
40	chr8:95508800-95522600	Weak transcription	Brain Substantia Nigra	brain
41	chr8:95509000-95516800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:95509000-95522000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:95509400-95516800	Weak transcription	NHLF	lung
44	chr8:95509600-95516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:95509600-95522000	Weak transcription	NHEK	skin
46	chr8:95510200-95516600	Weak transcription	A549	lung
47	chr8:95511000-95516400	Weak transcription	HUVEC	blood vessel
48	chr8:95511000-95517000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:95511000-95527400	Weak transcription	Pancreas	Pancrea
50	chr8:95511200-95527400	Weak transcription	Gastric	stomach

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