Variant report

Variant	rs12680029
Chromosome Location	chr8:95404646-95404647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95403859..95405378-chr8:95407123..95409414,2	MCF-7	breast:
2	chr8:95399745..95402481-chr8:95404255..95407243,2	MCF-7	breast:

Extended variants
information (count: 131 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10087254	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10087503	0.80[EUR][1000 genomes]
rs10095298	0.80[EUR][1000 genomes]
rs10102233	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10102496	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10109060	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1011249	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112606	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10216902	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10464877	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10504936	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10808669	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956911	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10956913	0.80[EUR][1000 genomes]
rs10956914	0.80[EUR][1000 genomes]
rs12375355	0.80[ASN][1000 genomes]
rs12545262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674614	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12675415	0.82[ASN][1000 genomes]
rs12679347	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12680213	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12681366	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12681504	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12682038	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13280849	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13281619	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1372048	0.80[ASN][1000 genomes]
rs1561648	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1580498	0.83[EUR][1000 genomes]
rs1598713	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16916788	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16916796	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916802	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1872889	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2011246	0.80[ASN][1000 genomes]
rs2028428	0.83[EUR][1000 genomes]
rs2043987	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2043988	0.80[ASN][1000 genomes]
rs2046665	0.85[EUR][1000 genomes]
rs2046666	0.85[EUR][1000 genomes]
rs2165405	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2171440	0.82[ASN][1000 genomes]
rs2197003	0.80[ASN][1000 genomes]
rs2197004	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2246066	0.83[EUR][1000 genomes]
rs2291439	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2381793	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2381886	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2445721	0.85[EUR][1000 genomes]
rs2450558	0.84[EUR][1000 genomes]
rs2450572	0.84[EUR][1000 genomes]
rs2470735	0.84[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	0.84[EUR][1000 genomes]
rs2515154	0.83[EUR][1000 genomes]
rs2515155	0.85[EUR][1000 genomes]
rs28641679	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919656	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2919657	0.80[ASN][1000 genomes]
rs2919658	0.80[ASN][1000 genomes]
rs2919659	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2919660	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2919662	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2919664	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2919667	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2919668	0.80[ASN][1000 genomes]
rs2919670	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2919672	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2919673	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2921386	0.80[ASN][1000 genomes]
rs2921389	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930956	0.80[ASN][1000 genomes]
rs2930958	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2930961	0.95[ASN][1000 genomes]
rs2930962	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2930963	0.82[ASN][1000 genomes]
rs2930964	0.82[ASN][1000 genomes]
rs2930968	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930970	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930971	0.95[ASN][1000 genomes]
rs2931631	0.82[ASN][1000 genomes]
rs2931632	0.81[ASN][1000 genomes]
rs2931633	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2960121	0.82[ASN][1000 genomes]
rs2960122	0.95[ASN][1000 genomes]
rs3019146	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3019147	0.82[ASN][1000 genomes]
rs3019148	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3019149	0.82[ASN][1000 genomes]
rs3019150	0.82[ASN][1000 genomes]
rs3019154	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019155	0.82[ASN][1000 genomes]
rs3019156	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3019277	0.82[ASN][1000 genomes]
rs3019278	0.82[ASN][1000 genomes]
rs3019279	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019280	0.82[ASN][1000 genomes]
rs3019281	0.82[ASN][1000 genomes]
rs3019282	0.82[ASN][1000 genomes]
rs3019284	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35889192	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35918414	0.81[ASN][1000 genomes]
rs4735288	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4735291	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4735292	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735294	0.81[EUR][1000 genomes]
rs55963151	0.80[ASN][1000 genomes]
rs56285115	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58826082	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs66787185	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67639046	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67808321	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6980687	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6991077	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6997115	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6999103	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6999976	0.80[ASN][1000 genomes]
rs716770	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72672679	0.82[ASN][1000 genomes]
rs72674819	0.80[ASN][1000 genomes]
rs7824722	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7825731	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7831073	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297939	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:91 , 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	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:95379400-95407000	Weak transcription	Fetal Stomach	stomach
6	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
7	chr8:95380200-95409400	Weak transcription	HSMMtube	muscle
8	chr8:95382400-95414800	Weak transcription	Gastric	stomach
9	chr8:95384200-95413600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:95386000-95405600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:95386000-95413400	Weak transcription	NHLF	lung
12	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
13	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
14	chr8:95386400-95407400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:95386400-95412000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:95386600-95418400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:95387200-95418000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:95387800-95410800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:95389200-95415600	Weak transcription	Adipose Nuclei	Adipose
20	chr8:95389200-95417800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:95389600-95409200	Weak transcription	Right Ventricle	heart
22	chr8:95389600-95409400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:95389800-95413000	Weak transcription	Placenta	Placenta
24	chr8:95390200-95404800	Weak transcription	Small Intestine	intestine
25	chr8:95391800-95405400	Weak transcription	Fetal Brain Female	brain
26	chr8:95391800-95406000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:95391800-95410800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:95391800-95412600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:95392000-95413600	Weak transcription	Left Ventricle	heart
30	chr8:95392200-95414400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:95392200-95415000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:95392200-95419000	Weak transcription	Thymus	Thymus
33	chr8:95392200-95421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:95392400-95405400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:95392400-95410800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:95392400-95412200	Weak transcription	Brain Substantia Nigra	brain
38	chr8:95392400-95413200	Weak transcription	Ovary	ovary
39	chr8:95392400-95413600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:95392400-95416000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:95392400-95417400	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:95392600-95407400	Weak transcription	HSMM	muscle
43	chr8:95392600-95413200	Weak transcription	Fetal Lung	lung
44	chr8:95392600-95413400	Weak transcription	Fetal Intestine Large	intestine
45	chr8:95392600-95414200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:95392600-95415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:95392600-95417400	Weak transcription	Osteobl	bone
48	chr8:95392600-95424800	Weak transcription	Hela-S3	cervix
49	chr8:95393000-95416000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:95393000-95418000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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