Variant report

Variant	rs2078379
Chromosome Location	chr9:97709191-97709192
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]
rs1004813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs10512252	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap]
rs10739991	1.00[JPT][hapmap]
rs1113967	1.00[JPT][hapmap]
rs12551506	0.82[JPT][hapmap]
rs12554043	1.00[JPT][hapmap]
rs12682668	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12684072	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12684139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12684154	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12684461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12684470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12684781	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12686277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12686500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1530331	1.00[JPT][hapmap]
rs1542107	1.00[JPT][hapmap]
rs1571897	0.82[JPT][hapmap]
rs16905557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16905559	0.82[LWK][hapmap];1.00[MKK][hapmap]
rs16911801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16911802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16911817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs16911820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16911821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16911826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs16911886	1.00[CEU][hapmap]
rs1800367	0.94[MKK][hapmap]
rs1806996	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs1904201	0.82[JPT][hapmap]
rs2026399	0.82[JPT][hapmap]
rs2095069	0.82[JPT][hapmap]
rs2119953	1.00[JPT][hapmap]
rs2406898	1.00[JPT][hapmap]
rs2897523	1.00[JPT][hapmap]
rs3780566	0.88[GIH][hapmap]
rs3824493	1.00[JPT][hapmap]
rs3847309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs3847310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3886567	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs3886568	1.00[JPT][hapmap]
rs4647509	0.88[GIH][hapmap]
rs4647510	0.88[GIH][hapmap]
rs4647514	0.88[GIH][hapmap]
rs4647516	0.88[GIH][hapmap]
rs4647549	0.88[GIH][hapmap]
rs4743976	0.82[JPT][hapmap]
rs4744389	1.00[JPT][hapmap]
rs6479568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6479576	1.00[JPT][hapmap]
rs7025934	1.00[JPT][hapmap]
rs7026714	1.00[JPT][hapmap]
rs7029570	0.82[JPT][hapmap]
rs7035166	1.00[JPT][hapmap]
rs7038519	1.00[JPT][hapmap]
rs7045005	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7465900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7848018	1.00[CEU][hapmap]
rs7850680	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7852735	0.95[LWK][hapmap];1.00[MKK][hapmap]
rs7866661	1.00[CEU][hapmap]
rs7869736	1.00[JPT][hapmap]
rs7870679	1.00[JPT][hapmap]
rs894427	1.00[JPT][hapmap]
rs894428	1.00[JPT][hapmap]

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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1045849	chr9:97688810-97741336	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:97682000-97713800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:97684800-97711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:97685200-97714600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:97687000-97714000	Weak transcription	Thymus	Thymus
6	chr9:97691800-97710800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:97692200-97713000	Weak transcription	Primary T cells from cord blood	blood
8	chr9:97693400-97712600	Weak transcription	Gastric	stomach
9	chr9:97700200-97714600	Weak transcription	Fetal Stomach	stomach
10	chr9:97700200-97718600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:97703600-97710600	Weak transcription	Placenta	Placenta
12	chr9:97703800-97712400	Weak transcription	Spleen	Spleen
13	chr9:97703800-97713000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:97704000-97710000	Weak transcription	Left Ventricle	heart
15	chr9:97704000-97710800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:97704000-97711200	Weak transcription	Adipose Nuclei	Adipose
17	chr9:97704000-97712400	Weak transcription	Pancreas	Pancrea
18	chr9:97704000-97712600	Weak transcription	Lung	lung
19	chr9:97704000-97713000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr9:97704400-97712800	Weak transcription	Fetal Lung	lung
21	chr9:97704800-97712800	Weak transcription	HUVEC	blood vessel
22	chr9:97705000-97712400	Weak transcription	Liver	Liver
23	chr9:97706200-97709200	Enhancers	NHLF	lung
24	chr9:97706400-97709200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr9:97706600-97709200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:97706600-97709200	Enhancers	HMEC	breast
27	chr9:97707000-97713400	Weak transcription	Small Intestine	intestine
28	chr9:97707200-97709200	Enhancers	NHEK	skin
29	chr9:97707200-97709800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:97707400-97709200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:97707600-97709200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr9:97707600-97709200	Enhancers	Psoas Muscle	Psoas
33	chr9:97707600-97710200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:97707800-97709200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:97707800-97709200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:97707800-97709200	Enhancers	Fetal Muscle Leg	muscle
37	chr9:97707800-97709200	Enhancers	Ovary	ovary
38	chr9:97707800-97710000	Enhancers	HepG2	liver
39	chr9:97707800-97713200	Enhancers	Aorta	Aorta
40	chr9:97708000-97709200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:97708000-97709200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr9:97708000-97709200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr9:97708000-97709200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr9:97708000-97710000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:97708000-97710800	Weak transcription	Fetal Heart	heart
46	chr9:97708000-97712400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr9:97708200-97709200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr9:97708200-97713200	Enhancers	A549	lung
49	chr9:97708400-97710800	Weak transcription	Brain Anterior Caudate	brain
50	chr9:97708400-97712400	Weak transcription	Right Atrium	heart

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