Variant report

Variant	rs11987172
Chromosome Location	chr8:104353774-104353775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104350988..104353935-chr8:104356214..104358122,2	K562	blood:
2	chr8:104352324..104354992-chr8:104357088..104360934,4	MCF-7	breast:
3	chr8:104304283..104306547-chr8:104353505..104355629,2	MCF-7	breast:
4	chr8:104352561..104355650-chr8:104357205..104359647,3	K562	blood:
5	chr8:104353548..104356424-chr8:104358804..104361378,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1004468	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10505042	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1053917	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10808383	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1095713	0.85[ASN][1000 genomes]
rs1095714	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11781252	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12164188	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12546491	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12550097	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1357354	0.87[ASN][1000 genomes]
rs1370008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464550	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1464552	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1522708	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1522710	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1522711	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1522712	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16870346	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1851483	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1916117	0.83[ASN][1000 genomes]
rs2010308	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2272097	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2388532	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2642363	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2642364	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2642366	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2642368	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2687351	0.87[ASN][1000 genomes]
rs28392906	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2917550	1.00[ASN][1000 genomes]
rs2934719	0.92[ASN][1000 genomes]
rs2948447	0.87[ASN][1000 genomes]
rs3133827	0.89[ASN][1000 genomes]
rs35019987	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35935697	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3736047	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808553	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808554	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808556	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808559	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4115670	0.83[EUR][1000 genomes]
rs4734698	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525498	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62525511	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7008838	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7012843	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs827530	0.89[ASN][1000 genomes]
rs827534	0.92[ASN][1000 genomes]
rs827535	0.89[ASN][1000 genomes]
rs827536	0.89[ASN][1000 genomes]
rs827550	0.92[ASN][1000 genomes]
rs827552	0.92[ASN][1000 genomes]
rs827554	0.92[ASN][1000 genomes]
rs827578	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs827579	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs827580	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs827581	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs827582	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs827583	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs827584	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs827585	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs827586	0.92[ASN][1000 genomes]
rs827587	0.91[ASN][1000 genomes]
rs827588	0.90[ASN][1000 genomes]
rs844136	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs865461	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs865462	0.86[AFR][1000 genomes];0.87[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104317400-104354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:104321400-104358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:104328200-104355800	Weak transcription	Gastric	stomach
4	chr8:104328200-104361200	Weak transcription	Pancreas	Pancrea
5	chr8:104342400-104357600	Weak transcription	Placenta	Placenta
6	chr8:104342400-104360000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:104343200-104355800	Weak transcription	HUVEC	blood vessel
8	chr8:104343800-104357600	Weak transcription	Adipose Nuclei	Adipose
9	chr8:104343800-104357600	Weak transcription	Ovary	ovary
10	chr8:104349200-104353800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:104349200-104355600	Weak transcription	NH-A	brain
12	chr8:104350400-104353800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:104350400-104355400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:104350400-104355400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:104350400-104355600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:104350400-104355600	Weak transcription	Left Ventricle	heart
17	chr8:104350400-104355600	Weak transcription	NHDF-Ad	bronchial
18	chr8:104350400-104357400	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:104351800-104356200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:104351800-104360200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:104352400-104354800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:104352400-104357200	Weak transcription	Aorta	Aorta
23	chr8:104352600-104353800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:104352600-104355600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:104352600-104355600	Weak transcription	HSMM	muscle
26	chr8:104352600-104355600	Weak transcription	Osteobl	bone
27	chr8:104352600-104356000	Weak transcription	HSMMtube	muscle
28	chr8:104352600-104356600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:104352600-104357000	Weak transcription	HMEC	breast
30	chr8:104352600-104357000	Weak transcription	NHEK	skin
31	chr8:104352800-104355000	Weak transcription	NHLF	lung
32	chr8:104352800-104355200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:104352800-104356600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:104352800-104357000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:104353400-104354000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr8:104353400-104354800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:104353400-104354800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:104353600-104355400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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