Variant report

Variant	rs12546491
Chromosome Location	chr8:104346241-104346242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104331335..104334252-chr8:104345911..104348093,2	MCF-7	breast:
2	chr8:104345079..104346663-chr8:104348274..104351227,2	MCF-7	breast:
3	chr8:104310858..104312601-chr8:104344090..104346508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1004468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10505042	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1053917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808383	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1095713	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1095714	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11781252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11987172	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12164188	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12550097	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1357354	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs1370008	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1370009	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1464550	0.96[ASN][1000 genomes]
rs1464552	0.96[ASN][1000 genomes]
rs1522708	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1522710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1522711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1522712	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16870346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1851483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1916117	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs2010308	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2272097	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2388532	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642363	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2642364	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2642366	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2642368	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2687351	0.89[ASN][1000 genomes]
rs28392906	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2917550	0.97[ASN][1000 genomes]
rs2934719	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs2948447	0.85[CEU][hapmap];0.90[ASN][1000 genomes]
rs3133827	0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs35019987	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35935697	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3736047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808553	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808556	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808559	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4115670	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4734698	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62525498	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62525511	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7008838	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7012843	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs827530	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs827534	0.94[ASN][1000 genomes]
rs827535	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs827536	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs827541	0.80[CEU][hapmap]
rs827550	0.95[ASN][1000 genomes]
rs827552	0.95[ASN][1000 genomes]
rs827554	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs827578	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs827579	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs827580	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs827581	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs827582	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs827583	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs827584	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs827585	0.88[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs827586	0.89[ASN][1000 genomes]
rs827587	0.95[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs827588	0.95[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs844136	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs865461	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs865462	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104312000-104348400	Weak transcription	Thymus	Thymus
2	chr8:104312000-104350200	Weak transcription	Esophagus	oesophagus
3	chr8:104312400-104350000	Weak transcription	Lung	lung
4	chr8:104312600-104350000	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:104317400-104354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:104319400-104347200	Weak transcription	Hela-S3	cervix
7	chr8:104321400-104358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:104321600-104350200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:104322800-104350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:104324800-104348200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:104328200-104355800	Weak transcription	Gastric	stomach
12	chr8:104328200-104361200	Weak transcription	Pancreas	Pancrea
13	chr8:104330400-104350200	Weak transcription	Psoas Muscle	Psoas
14	chr8:104331800-104347200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:104331800-104352000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:104332000-104348200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:104334200-104347000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:104334200-104348800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:104335800-104347800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:104336600-104348400	Weak transcription	GM12878-XiMat	blood
21	chr8:104337600-104348600	Weak transcription	HSMMtube	muscle
22	chr8:104337800-104350200	Weak transcription	Brain Angular Gyrus	brain
23	chr8:104337800-104351800	Weak transcription	Aorta	Aorta
24	chr8:104338000-104350000	Weak transcription	Brain Anterior Caudate	brain
25	chr8:104338200-104348400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:104338600-104348000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:104340200-104347200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:104340600-104348400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:104340600-104349000	Weak transcription	Fetal Kidney	kidney
30	chr8:104340800-104350000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:104341800-104346600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:104342400-104349200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:104342400-104357600	Weak transcription	Placenta	Placenta
34	chr8:104342400-104360000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:104342600-104352000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:104343000-104347200	Weak transcription	Dnd41	blood
37	chr8:104343000-104350000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:104343000-104350000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:104343000-104350000	Weak transcription	NHLF	lung
40	chr8:104343200-104348000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:104343200-104349000	Weak transcription	NHDF-Ad	bronchial
42	chr8:104343200-104355800	Weak transcription	HUVEC	blood vessel
43	chr8:104343800-104350000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:104343800-104350000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:104343800-104352200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:104343800-104352200	Weak transcription	NHEK	skin
47	chr8:104343800-104357600	Weak transcription	Adipose Nuclei	Adipose
48	chr8:104343800-104357600	Weak transcription	Ovary	ovary
49	chr8:104344000-104347800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:104344000-104348400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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