Variant report

Variant	rs3099412
Chromosome Location	chr8:95524209-95524210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1023766	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1372047	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1580498	0.81[ASN][1000 genomes]
rs1866845	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2046666	1.00[CHB][hapmap]
rs2099788	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2119460	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2246066	1.00[CHB][hapmap]
rs2381830	0.85[EUR][1000 genomes]
rs2381831	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2445721	1.00[CHB][hapmap]
rs2450558	1.00[CHB][hapmap]
rs2470739	1.00[CHB][hapmap]
rs2470740	1.00[CHB][hapmap]
rs2470742	1.00[CHB][hapmap]
rs2515100	1.00[CHB][hapmap]
rs2515153	1.00[CHB][hapmap]
rs2515165	1.00[CHB][hapmap]
rs2919654	1.00[CHB][hapmap]
rs2921385	1.00[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2921387	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2930967	1.00[CHB][hapmap]
rs2930969	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs3098707	0.84[EUR][1000 genomes]
rs3098708	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs3098709	0.86[EUR][1000 genomes]
rs3098712	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3098715	0.90[EUR][1000 genomes]
rs3098716	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3098718	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3098719	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3098725	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3099397	0.83[ASN][1000 genomes]
rs3099398	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs3099403	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3099404	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3099406	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3099407	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3099413	0.84[EUR][1000 genomes]
rs3102841	1.00[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3102845	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102855	0.91[EUR][1000 genomes]
rs3102859	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3102862	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3102874	1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3102877	0.85[EUR][1000 genomes]
rs3133635	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3133637	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133640	0.93[EUR][1000 genomes]
rs3133645	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3133648	1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3133649	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3133651	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3133654	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3133656	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3133657	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3133658	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4734279	0.82[CEU][hapmap]
rs935052	1.00[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs957446	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 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	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
7	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:95500400-95524600	Weak transcription	Stomach Mucosa	stomach
9	chr8:95501200-95541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:95511000-95527400	Weak transcription	Pancreas	Pancrea
11	chr8:95511200-95527400	Weak transcription	Gastric	stomach
12	chr8:95511200-95530600	Weak transcription	Aorta	Aorta
13	chr8:95512600-95524600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:95512600-95527800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:95513600-95530000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:95515000-95527600	Weak transcription	Ovary	ovary
17	chr8:95515600-95534200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:95516200-95534000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
20	chr8:95517200-95530400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:95517400-95527600	Weak transcription	Spleen	Spleen
22	chr8:95517400-95528000	Weak transcription	Right Ventricle	heart
23	chr8:95517600-95538600	Weak transcription	Fetal Brain Male	brain
24	chr8:95517600-95540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:95518000-95530600	Weak transcription	Small Intestine	intestine
26	chr8:95518000-95534000	Weak transcription	Psoas Muscle	Psoas
27	chr8:95518800-95534000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:95519000-95527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:95519000-95530400	Weak transcription	Fetal Heart	heart
30	chr8:95520400-95524400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:95520400-95525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:95520400-95525400	Strong transcription	Thymus	Thymus
33	chr8:95520400-95529000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr8:95520400-95530400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:95520400-95532200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:95520400-95532400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:95520400-95532800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:95520400-95532800	Strong transcription	Fetal Intestine Large	intestine
39	chr8:95520400-95534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:95520400-95534800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:95520400-95534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:95520400-95535000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:95520400-95535000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr8:95520400-95555200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr8:95520600-95524400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:95520600-95524400	Strong transcription	HSMM	muscle
47	chr8:95520600-95524400	Strong transcription	HSMMtube	muscle
48	chr8:95520600-95524800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr8:95520600-95525200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:95520600-95527400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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