Variant report

Variant	rs3099406
Chromosome Location	chr8:95499178-95499179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1023766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1372047	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1866845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2019783	0.81[JPT][hapmap]
rs2046666	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2099788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2119460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2246066	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2381830	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2381831	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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];0.84[ASN][1000 genomes]
rs2919663	0.84[ASN][1000 genomes]
rs2919665	0.84[ASN][1000 genomes]
rs2919666	0.84[ASN][1000 genomes]
rs2921385	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2921387	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2921388	0.81[ASN][1000 genomes]
rs2930959	0.84[ASN][1000 genomes]
rs2930967	1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2930969	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3098703	0.85[ASN][1000 genomes]
rs3098707	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3098709	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098715	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098716	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098719	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3099398	1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs3099401	0.86[ASN][1000 genomes]
rs3099403	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3099404	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3099407	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099412	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3099413	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3102841	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102845	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3102855	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102859	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102862	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3102874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3102875	0.90[AMR][1000 genomes]
rs3102877	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3133635	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133637	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3133640	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133645	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133649	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4734279	0.86[CEU][hapmap]
rs935052	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs957446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95487800-95500000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:95487800-95500200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:95488000-95499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:95488000-95499200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:95488000-95499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:95488000-95499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:95488000-95499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:95488000-95499400	Weak transcription	Adipose Nuclei	Adipose
9	chr8:95488000-95499400	Weak transcription	Brain Germinal Matrix	brain
10	chr8:95488000-95499400	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:95488000-95499400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:95488000-95499400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:95488000-95499400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:95488000-95499600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:95488000-95499600	Weak transcription	Liver	Liver
16	chr8:95488000-95499600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:95488000-95499600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:95488000-95499600	Weak transcription	Osteobl	bone
19	chr8:95488000-95499800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:95488000-95499800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:95488000-95500000	Weak transcription	GM12878-XiMat	blood
22	chr8:95488000-95500200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:95488000-95500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:95488000-95500400	Weak transcription	Primary B cells from cord blood	blood
25	chr8:95488000-95500400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:95488000-95500400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:95488000-95500400	Weak transcription	HMEC	breast
28	chr8:95488000-95500400	Weak transcription	HUVEC	blood vessel
29	chr8:95488000-95501800	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:95488000-95502200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:95488000-95503600	Weak transcription	NHEK	skin
32	chr8:95488200-95499200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:95488200-95499400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:95488200-95500200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:95488200-95501000	Weak transcription	Hela-S3	cervix
36	chr8:95488200-95507800	Weak transcription	NHLF	lung
37	chr8:95491200-95499400	Weak transcription	Placenta	Placenta
38	chr8:95491200-95499400	Weak transcription	HSMM	muscle
39	chr8:95491600-95499200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:95492000-95500400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:95492200-95499200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:95492200-95503000	Weak transcription	HepG2	liver
43	chr8:95492600-95499600	Weak transcription	Brain Substantia Nigra	brain
44	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr8:95493200-95500200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:95493400-95499400	Weak transcription	Left Ventricle	heart
47	chr8:95493400-95503600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:95494000-95499400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:95494200-95502000	Weak transcription	Right Ventricle	heart
50	chr8:95495000-95500400	Weak transcription	Fetal Intestine Large	intestine

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