Variant report

Variant	rs716770
Chromosome Location	chr8:95390921-95390922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10087254	0.81[EUR][1000 genomes]
rs10087503	0.81[EUR][1000 genomes]
rs10095298	0.81[EUR][1000 genomes]
rs10102233	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10102496	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10109060	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1011249	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10112606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10216902	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10464877	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10504936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808669	0.81[EUR][1000 genomes]
rs10956911	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10956913	0.81[EUR][1000 genomes]
rs10956914	0.81[EUR][1000 genomes]
rs12545262	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12674614	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12675415	0.85[ASN][1000 genomes]
rs12676373	0.80[ASN][1000 genomes]
rs12679347	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12680029	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12680213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12681366	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12681504	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12682038	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13280849	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13281619	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1561648	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1580498	0.84[EUR][1000 genomes]
rs1598713	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16916760	0.81[ASN][1000 genomes]
rs16916788	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16916796	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916802	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1872889	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2028428	0.83[EUR][1000 genomes]
rs2043987	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2046665	0.85[EUR][1000 genomes]
rs2046666	0.85[EUR][1000 genomes]
rs2165405	0.85[EUR][1000 genomes]
rs2197004	0.84[EUR][1000 genomes]
rs2246066	0.84[EUR][1000 genomes]
rs2291439	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2381793	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2381886	0.81[EUR][1000 genomes]
rs2445721	0.85[EUR][1000 genomes]
rs2450558	0.85[EUR][1000 genomes]
rs2450572	0.84[EUR][1000 genomes]
rs2470735	0.85[EUR][1000 genomes]
rs2470739	0.86[EUR][1000 genomes]
rs2470740	0.85[EUR][1000 genomes]
rs2470742	0.86[EUR][1000 genomes]
rs2470746	0.86[EUR][1000 genomes]
rs2515153	0.85[EUR][1000 genomes]
rs2515154	0.83[EUR][1000 genomes]
rs2515155	0.85[EUR][1000 genomes]
rs28413800	0.81[ASN][1000 genomes]
rs28641679	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2919656	0.83[EUR][1000 genomes]
rs2919659	0.84[EUR][1000 genomes]
rs2919660	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2919662	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2919664	0.84[EUR][1000 genomes]
rs2919667	0.84[EUR][1000 genomes]
rs2919670	0.83[EUR][1000 genomes]
rs2919672	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2919673	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2921389	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2930958	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2930961	0.92[ASN][1000 genomes]
rs2930962	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2930968	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2930970	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2930971	0.92[ASN][1000 genomes]
rs2931631	0.80[EUR][1000 genomes]
rs2931633	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2960122	0.92[ASN][1000 genomes]
rs3019145	0.80[EUR][1000 genomes]
rs3019146	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019148	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3019154	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019155	0.80[EUR][1000 genomes]
rs3019156	0.81[EUR][1000 genomes]
rs3019279	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019284	0.83[EUR][1000 genomes]
rs35889192	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35918414	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735288	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735291	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4735292	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735294	0.81[EUR][1000 genomes]
rs56285115	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58826082	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs66787185	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs67639046	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67808321	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6980687	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6991077	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997115	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6999103	0.81[EUR][1000 genomes]
rs72672679	0.85[ASN][1000 genomes]
rs7824722	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7825731	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7831073	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297939	0.81[EUR][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	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95372800-95391200	Weak transcription	HepG2	liver
4	chr8:95373800-95391600	Weak transcription	Fetal Lung	lung
5	chr8:95374000-95391000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:95374600-95392200	Weak transcription	Fetal Intestine Large	intestine
7	chr8:95374800-95391400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:95377800-95391000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:95378000-95391400	Weak transcription	Thymus	Thymus
11	chr8:95378200-95391400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:95378200-95403200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:95378400-95391000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:95378400-95391200	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:95379200-95391400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:95379200-95403600	Weak transcription	Brain Anterior Caudate	brain
18	chr8:95379400-95407000	Weak transcription	Fetal Stomach	stomach
19	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
20	chr8:95380200-95391400	Weak transcription	Brain Germinal Matrix	brain
21	chr8:95380200-95409400	Weak transcription	HSMMtube	muscle
22	chr8:95380800-95392000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:95381000-95393000	Weak transcription	Primary B cells from cord blood	blood
24	chr8:95381400-95391400	Weak transcription	Ovary	ovary
25	chr8:95382400-95391000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:95382400-95414800	Weak transcription	Gastric	stomach
27	chr8:95382800-95391400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr8:95383000-95392000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:95383200-95403600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:95384200-95413600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:95385800-95391000	Weak transcription	HSMM	muscle
32	chr8:95385800-95403000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:95386000-95391000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:95386000-95391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:95386000-95391000	Weak transcription	HUVEC	blood vessel
36	chr8:95386000-95391000	Weak transcription	NHEK	skin
37	chr8:95386000-95397800	Weak transcription	HMEC	breast
38	chr8:95386000-95405600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:95386000-95413400	Weak transcription	NHLF	lung
40	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
41	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
42	chr8:95386200-95391600	Weak transcription	Osteobl	bone
43	chr8:95386400-95407400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:95386400-95412000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:95386600-95418400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:95387200-95418000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:95387600-95394000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:95387800-95391200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:95387800-95391600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:95387800-95393800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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