Variant report

Variant	rs10758731
Chromosome Location	chr9:5967350-5967351
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10117416	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10121480	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10733517	1.00[CEU][hapmap]
rs10733520	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10733521	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10733522	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10733523	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10739079	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10739082	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10758732	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs10758734	1.00[CEU][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes]
rs10815330	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10815335	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes]
rs1331378	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1331379	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1418740	1.00[CEU][hapmap]
rs1478935	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1478936	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1478937	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs1478938	0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs16923578	1.00[CEU][hapmap]
rs186913	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1888703	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1888704	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2150703	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs2169906	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2244053	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs2244058	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs2291055	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2381341	0.84[ASN][1000 genomes]
rs2381360	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2890690	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs343469	1.00[CEU][hapmap]
rs343471	1.00[CEU][hapmap]
rs343480	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs343482	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs343500	1.00[CEU][hapmap]
rs3739649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3933800	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4075225	1.00[CEU][hapmap]
rs4265236	1.00[CEU][hapmap]
rs4389996	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4395943	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap]
rs4740833	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4740834	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4742131	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs4742141	0.93[ASN][1000 genomes]
rs4742142	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4742143	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs58909954	0.80[ASN][1000 genomes]
rs6477017	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs6477021	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6477022	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6477023	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6477024	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6477025	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6477026	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7019606	1.00[CEU][hapmap]
rs7021498	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7024130	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7026453	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7026454	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7029054	0.82[ASN][1000 genomes]
rs7029833	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7030731	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7032130	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7034210	1.00[CEU][hapmap]
rs7042947	1.00[CEU][hapmap]
rs7044750	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7851268	0.88[ASN][1000 genomes]
rs7851749	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7856075	0.80[ASN][1000 genomes]
rs7866793	1.00[CEU][hapmap]
rs7868062	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7869571	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7875450	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
3	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv892155	chr9:5825768-6044937	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv892156	chr9:5892375-6011757	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv613204	chr9:5931216-5971977	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5923000-5969000	Weak transcription	Fetal Stomach	stomach
2	chr9:5923200-5968200	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:5923200-5971800	Weak transcription	NHEK	skin
4	chr9:5923200-5972400	Weak transcription	Aorta	Aorta
5	chr9:5924600-5967400	Weak transcription	Brain Anterior Caudate	brain
6	chr9:5924600-5968600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:5924600-5977000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr9:5924600-5977000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:5924800-5967600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr9:5925200-5968400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:5926800-5972600	Weak transcription	Fetal Intestine Small	intestine
12	chr9:5933600-5968400	Weak transcription	Fetal Intestine Large	intestine
13	chr9:5934000-5967600	Weak transcription	Placenta	Placenta
14	chr9:5934000-5968400	Weak transcription	Left Ventricle	heart
15	chr9:5934200-5967600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:5940000-6006800	Weak transcription	Gastric	stomach
17	chr9:5940200-5973800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:5948000-6006000	Weak transcription	Right Ventricle	heart
19	chr9:5948200-5976800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:5948400-5968400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:5948400-5968800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:5949000-5968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:5949400-5968600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:5949600-5967400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr9:5949600-5967400	Weak transcription	Adipose Nuclei	Adipose
26	chr9:5949600-5968600	Weak transcription	HSMM	muscle
27	chr9:5949600-5968800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:5949600-5969000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr9:5949600-5976400	Weak transcription	Fetal Heart	heart
30	chr9:5949800-5967600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr9:5949800-5976800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr9:5950200-5968600	Weak transcription	Dnd41	blood
33	chr9:5950200-5973600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr9:5950400-5967600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr9:5950400-5968600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr9:5950600-5967600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr9:5950600-6006000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:5951200-5976800	Weak transcription	Psoas Muscle	Psoas
39	chr9:5952400-5971400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:5952400-5973600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:5952400-5973600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:5952400-5973600	Weak transcription	Ovary	ovary
43	chr9:5952400-5976600	Weak transcription	Colon Smooth Muscle	Colon
44	chr9:5952600-5967800	Weak transcription	NHDF-Ad	bronchial
45	chr9:5952800-5968400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:5954600-5967600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:5954800-5968400	Weak transcription	Fetal Lung	lung
48	chr9:5954800-5968400	Weak transcription	A549	lung
49	chr9:5954800-5976800	Weak transcription	Small Intestine	intestine
50	chr9:5955000-5993600	Weak transcription	Lung	lung

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