Variant report

Variant	rs12679347
Chromosome Location	chr8:95389943-95389944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10087254	0.81[EUR][1000 genomes]
rs10087503	0.81[EUR][1000 genomes]
rs10095298	0.81[EUR][1000 genomes]
rs10102233	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10102496	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10109060	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1011249	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10112606	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10216902	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10464877	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10504936	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808669	0.81[EUR][1000 genomes]
rs10956911	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10956913	0.81[EUR][1000 genomes]
rs10956914	0.81[EUR][1000 genomes]
rs12545262	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12674614	0.81[EUR][1000 genomes]
rs12675415	0.80[ASN][1000 genomes]
rs12680029	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12680213	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12681366	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12681504	0.82[EUR][1000 genomes]
rs12682038	0.82[EUR][1000 genomes]
rs13280849	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13281619	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1561648	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1580498	0.84[EUR][1000 genomes]
rs1598713	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16916788	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16916796	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16916802	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1872889	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2028428	0.83[EUR][1000 genomes]
rs2043987	0.89[EUR][1000 genomes];0.85[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	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2381793	0.82[EUR][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]
rs28641679	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2919656	0.83[EUR][1000 genomes]
rs2919659	0.84[EUR][1000 genomes]
rs2919660	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919662	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919664	0.84[EUR][1000 genomes]
rs2919667	0.84[EUR][1000 genomes]
rs2919670	0.83[EUR][1000 genomes]
rs2919672	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2919673	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2921389	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930958	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2930961	0.87[ASN][1000 genomes]
rs2930962	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2930968	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930970	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930971	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2931631	0.80[EUR][1000 genomes]
rs2931633	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2960122	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3019145	0.80[EUR][1000 genomes]
rs3019146	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019148	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3019154	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3019155	0.80[EUR][1000 genomes]
rs3019156	0.81[EUR][1000 genomes]
rs3019279	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019284	0.83[EUR][1000 genomes]
rs35889192	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35918414	0.80[EUR][1000 genomes]
rs4735288	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735291	0.93[EUR][1000 genomes]
rs4735292	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735294	0.81[EUR][1000 genomes]
rs56285115	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58826082	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs66787185	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs67639046	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67808321	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6980687	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6991077	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997115	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6999103	0.81[EUR][1000 genomes]
rs716770	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672679	0.80[ASN][1000 genomes]
rs7824722	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7825731	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7831073	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[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:93 , 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	chr8:95374000-95390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:95374000-95391000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:95374400-95390400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:95374600-95392200	Weak transcription	Fetal Intestine Large	intestine
9	chr8:95374800-95391400	Weak transcription	Fetal Intestine Small	intestine
10	chr8:95377600-95390800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:95377800-95391000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:95378000-95391400	Weak transcription	Thymus	Thymus
14	chr8:95378200-95391400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:95378200-95403200	Weak transcription	Brain Angular Gyrus	brain
16	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:95378400-95391000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:95378400-95391200	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:95378800-95390400	Weak transcription	Brain Substantia Nigra	brain
20	chr8:95379200-95391400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:95379200-95403600	Weak transcription	Brain Anterior Caudate	brain
22	chr8:95379400-95407000	Weak transcription	Fetal Stomach	stomach
23	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
24	chr8:95379600-95390800	Weak transcription	Fetal Brain Female	brain
25	chr8:95380200-95391400	Weak transcription	Brain Germinal Matrix	brain
26	chr8:95380200-95409400	Weak transcription	HSMMtube	muscle
27	chr8:95380800-95392000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:95381000-95390200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:95381000-95393000	Weak transcription	Primary B cells from cord blood	blood
30	chr8:95381400-95391400	Weak transcription	Ovary	ovary
31	chr8:95382400-95390800	Weak transcription	Liver	Liver
32	chr8:95382400-95391000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:95382400-95414800	Weak transcription	Gastric	stomach
34	chr8:95382800-95390400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:95382800-95391400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr8:95383000-95392000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:95383200-95403600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:95383800-95390800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:95384200-95390400	Weak transcription	K562	blood
40	chr8:95384200-95390600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:95384200-95413600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:95385800-95390400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:95385800-95390400	Weak transcription	Primary T cells from cord blood	blood
44	chr8:95385800-95390400	Weak transcription	Hela-S3	cervix
45	chr8:95385800-95390800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:95385800-95390800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:95385800-95391000	Weak transcription	HSMM	muscle
48	chr8:95385800-95403000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:95386000-95390400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:95386000-95390400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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