Variant report

Variant	rs2995680
Chromosome Location	chr6:121476363-121476364
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10499105	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs11153995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12205580	0.81[EUR][1000 genomes]
rs12524367	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12524843	0.86[ASN][1000 genomes]
rs12526242	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs12529234	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12529394	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529782	0.81[ASN][1000 genomes]
rs1273707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1273715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273718	0.85[JPT][hapmap]
rs1273719	0.85[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs1273720	0.81[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1273721	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273722	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273725	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273732	0.84[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1273733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273734	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273736	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1273737	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273738	0.90[CEU][hapmap]
rs1273741	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273742	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs1273743	0.82[ASN][1000 genomes]
rs1273745	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273755	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273756	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1298045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1314808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1314809	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604278	0.81[EUR][1000 genomes]
rs17083139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17083165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083177	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083183	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083186	0.85[CHB][hapmap]
rs17083190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083373	0.85[CHB][hapmap]
rs17083393	1.00[GIH][hapmap];0.90[MEX][hapmap]
rs17083415	0.85[CHB][hapmap]
rs17154	0.85[CHB][hapmap]
rs1776817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846866	1.00[CEU][hapmap]
rs1935940	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2133992	1.00[CEU][hapmap]
rs2133994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2186097	0.85[CHB][hapmap]
rs2202066	0.81[EUR][1000 genomes]
rs2358136	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2455056	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2651526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2797955	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892765	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs35102641	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4072142	0.85[CHB][hapmap]
rs4321860	0.81[EUR][1000 genomes]
rs4371872	0.85[CHB][hapmap]
rs4476866	1.00[CEU][hapmap]
rs4498397	0.83[CEU][hapmap]
rs4527742	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs4584021	0.82[CHB][hapmap]
rs4585603	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs4946537	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4946540	1.00[GIH][hapmap];0.90[MEX][hapmap]
rs4946547	1.00[CEU][hapmap]
rs4946562	0.84[CEU][hapmap]
rs56721703	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56822960	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59919987	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6569179	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs6569194	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs6903467	0.85[CHB][hapmap]
rs6905696	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6905992	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6920884	0.85[CHB][hapmap]
rs6933489	1.00[GIH][hapmap];0.95[MEX][hapmap]
rs6939178	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6941089	0.85[CHB][hapmap]
rs6941235	0.84[CEU][hapmap]
rs73536406	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73536417	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73536430	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73536471	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73536481	0.81[ASN][1000 genomes]
rs73536482	0.81[ASN][1000 genomes]
rs7450022	1.00[CEU][hapmap]
rs7451033	0.85[CHB][hapmap]
rs767743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7741356	0.85[CHB][hapmap]
rs7742071	0.85[CHB][hapmap]
rs7743455	0.85[CHB][hapmap]
rs7749984	0.85[CHB][hapmap]
rs7751291	0.84[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[ASN][1000 genomes]
rs7761551	0.82[CHB][hapmap]
rs7765795	0.82[CHB][hapmap]
rs7768927	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771625	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772236	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs785397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs811484	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs813068	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs905023	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs905024	1.00[CEU][hapmap]
rs905025	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs9320793	1.00[CEU][hapmap]
rs9320794	1.00[CEU][hapmap]
rs9372640	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9372646	1.00[CEU][hapmap]
rs9375011	1.00[CEU][hapmap]
rs9375012	1.00[CEU][hapmap]
rs9385187	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9387922	0.81[EUR][1000 genomes]
rs9398623	1.00[CEU][hapmap]
rs9398625	1.00[CEU][hapmap]
rs9398631	0.84[CEU][hapmap]
rs9401374	1.00[CEU][hapmap]
rs9401375	1.00[CEU][hapmap]
rs9401379	1.00[CEU][hapmap]
rs9482118	0.84[CEU][hapmap]
rs953616	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs975679	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv604572	chr6:121465011-121544876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121463600-121476800	Weak transcription	Gastric	stomach
2	chr6:121469400-121477800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:121472600-121481600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:121473400-121480600	Weak transcription	Small Intestine	intestine
5	chr6:121473400-121499000	Weak transcription	Right Ventricle	heart
6	chr6:121473800-121476400	ZNF genes & repeats	Liver	Liver
7	chr6:121474200-121476800	Strong transcription	Primary T cells from cord blood	blood
8	chr6:121474200-121478400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:121474200-121478600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:121474200-121479600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:121474200-121483400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:121474400-121476600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:121474400-121478400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:121474400-121483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:121474400-121483400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:121474600-121478000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:121474600-121478600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr6:121474600-121479000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:121474600-121479000	Weak transcription	HSMMtube	muscle
20	chr6:121474600-121481400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:121474600-121485200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:121474600-121508600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:121474800-121479000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:121474800-121484000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:121475000-121479000	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:121475000-121482400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:121475200-121478000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:121475200-121481400	Weak transcription	Brain Germinal Matrix	brain
29	chr6:121475400-121476600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:121475400-121477000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:121475400-121478000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:121475400-121478200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:121475400-121478400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:121475400-121478600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:121475400-121478600	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:121475400-121479000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:121475400-121479400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:121475400-121480400	Weak transcription	Primary B cells from cord blood	blood
39	chr6:121475400-121483000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:121475600-121476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:121475600-121478200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:121475600-121478400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:121475600-121478400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:121475600-121478400	Weak transcription	Fetal Intestine Large	intestine
45	chr6:121475600-121478600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:121475600-121478600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:121475600-121478600	Weak transcription	Left Ventricle	heart
48	chr6:121475600-121478600	Weak transcription	Ovary	ovary
49	chr6:121475600-121479600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:121475600-121479600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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