Variant report

Variant	rs12675415
Chromosome Location	chr8:95383560-95383561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10087254	0.90[ASN][1000 genomes]
rs10087503	0.89[ASN][1000 genomes]
rs10095298	0.89[ASN][1000 genomes]
rs10102233	0.84[ASN][1000 genomes]
rs10102496	0.84[ASN][1000 genomes]
rs10109060	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10112606	0.84[ASN][1000 genomes]
rs10464877	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10504936	0.85[ASN][1000 genomes]
rs10808669	0.90[ASN][1000 genomes]
rs10956911	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956913	0.89[ASN][1000 genomes]
rs10956914	0.89[ASN][1000 genomes]
rs12375355	0.90[ASN][1000 genomes]
rs12545262	0.82[ASN][1000 genomes]
rs12549544	0.89[ASN][1000 genomes]
rs12674614	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12676373	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12679347	0.80[ASN][1000 genomes]
rs12680029	0.82[ASN][1000 genomes]
rs12680213	0.83[ASN][1000 genomes]
rs12680342	0.82[EUR][1000 genomes]
rs12681366	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12681504	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12682038	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12682524	0.89[ASN][1000 genomes]
rs13280849	0.84[ASN][1000 genomes]
rs13281619	0.83[ASN][1000 genomes]
rs1372048	0.90[ASN][1000 genomes]
rs1598713	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16916760	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16916788	0.83[ASN][1000 genomes]
rs16916796	0.83[ASN][1000 genomes]
rs16916802	0.81[ASN][1000 genomes]
rs2011246	0.90[ASN][1000 genomes]
rs2043988	0.90[ASN][1000 genomes]
rs2165405	0.91[ASN][1000 genomes]
rs2171440	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2197003	0.90[ASN][1000 genomes]
rs2197004	0.90[ASN][1000 genomes]
rs2381793	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2381886	0.90[ASN][1000 genomes]
rs28641679	0.82[ASN][1000 genomes]
rs2919655	0.86[ASN][1000 genomes]
rs2919656	0.90[ASN][1000 genomes]
rs2919657	0.90[ASN][1000 genomes]
rs2919658	0.90[ASN][1000 genomes]
rs2919659	0.90[ASN][1000 genomes]
rs2919664	0.90[ASN][1000 genomes]
rs2919667	0.90[ASN][1000 genomes]
rs2919668	0.90[ASN][1000 genomes]
rs2919670	0.90[ASN][1000 genomes]
rs2921386	0.90[ASN][1000 genomes]
rs2930956	0.90[ASN][1000 genomes]
rs2930963	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2930964	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2931631	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2931632	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2960121	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019145	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3019147	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019149	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019150	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3019155	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019156	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019277	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3019278	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3019280	0.91[ASN][1000 genomes]
rs3019281	0.91[ASN][1000 genomes]
rs3019282	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3019284	0.90[ASN][1000 genomes]
rs35889192	0.84[ASN][1000 genomes]
rs35918414	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4735288	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4735291	0.94[ASN][1000 genomes]
rs4735292	0.80[ASN][1000 genomes]
rs55963151	0.90[ASN][1000 genomes]
rs56285115	0.83[ASN][1000 genomes]
rs58826082	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66787185	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67639046	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67808321	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6991077	0.85[ASN][1000 genomes]
rs6997115	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6999103	0.90[ASN][1000 genomes]
rs6999976	0.90[ASN][1000 genomes]
rs716770	0.85[ASN][1000 genomes]
rs72672679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674819	0.90[ASN][1000 genomes]
rs7825731	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7831073	0.81[ASN][1000 genomes]
rs9297939	0.90[ASN][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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95363000-95385200	Weak transcription	Primary T cells from cord blood	blood
2	chr8:95365800-95385000	Weak transcription	NHEK	skin
3	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:95369400-95383600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:95370000-95385000	Weak transcription	NHLF	lung
6	chr8:95370000-95385200	Weak transcription	HSMM	muscle
7	chr8:95370000-95385200	Weak transcription	HUVEC	blood vessel
8	chr8:95370200-95384800	Weak transcription	HMEC	breast
9	chr8:95370600-95385400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:95372400-95384400	Weak transcription	NHDF-Ad	bronchial
12	chr8:95372400-95385000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:95372800-95384400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:95372800-95384800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:95372800-95385200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:95372800-95391200	Weak transcription	HepG2	liver
17	chr8:95373800-95385600	Weak transcription	Fetal Kidney	kidney
18	chr8:95373800-95391600	Weak transcription	Fetal Lung	lung
19	chr8:95374000-95390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:95374000-95391000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:95374400-95390400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:95374600-95385000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:95374600-95392200	Weak transcription	Fetal Intestine Large	intestine
24	chr8:95374800-95391400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:95375000-95389400	Weak transcription	Fetal Thymus	thymus
26	chr8:95376400-95387400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:95376600-95385200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:95377600-95390800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:95377800-95391000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:95378000-95391400	Weak transcription	Thymus	Thymus
32	chr8:95378200-95391400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:95378200-95403200	Weak transcription	Brain Angular Gyrus	brain
34	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:95378400-95391000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:95378400-95391200	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:95378800-95390400	Weak transcription	Brain Substantia Nigra	brain
38	chr8:95379000-95385000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:95379200-95385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:95379200-95391400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:95379200-95403600	Weak transcription	Brain Anterior Caudate	brain
42	chr8:95379400-95385200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:95379400-95407000	Weak transcription	Fetal Stomach	stomach
44	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
45	chr8:95379600-95390800	Weak transcription	Fetal Brain Female	brain
46	chr8:95379800-95385200	Weak transcription	NH-A	brain
47	chr8:95379800-95385400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:95380200-95389200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:95380200-95391400	Weak transcription	Brain Germinal Matrix	brain
50	chr8:95380200-95409400	Weak transcription	HSMMtube	muscle

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