Variant report

Variant	rs2917550
Chromosome Location	chr8:104354865-104354866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104352324..104354992-chr8:104357088..104360934,4	MCF-7	breast:
2	chr8:104304283..104306547-chr8:104353505..104355629,2	MCF-7	breast:
3	chr8:104309761..104312845-chr8:104354568..104359504,4	MCF-7	breast:
4	chr8:104352561..104355650-chr8:104357205..104359647,3	K562	blood:
5	chr8:104353548..104356424-chr8:104358804..104361378,2	K562	blood:

Variant related genes	Relation type
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1004468	0.98[ASN][1000 genomes]
rs10505042	0.89[ASN][1000 genomes]
rs1053917	0.97[ASN][1000 genomes]
rs1095713	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1095714	0.87[ASN][1000 genomes]
rs11781252	0.98[ASN][1000 genomes]
rs11987172	1.00[ASN][1000 genomes]
rs12164188	0.95[ASN][1000 genomes]
rs12546491	0.97[ASN][1000 genomes]
rs12550097	0.92[ASN][1000 genomes]
rs1357354	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1370008	1.00[ASN][1000 genomes]
rs1370009	1.00[ASN][1000 genomes]
rs1464550	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1464552	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1522708	0.92[ASN][1000 genomes]
rs1522710	0.87[ASN][1000 genomes]
rs1522711	0.87[ASN][1000 genomes]
rs1522712	0.89[ASN][1000 genomes]
rs16870346	0.98[ASN][1000 genomes]
rs1851483	0.89[ASN][1000 genomes]
rs1916117	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2010308	0.98[ASN][1000 genomes]
rs2388532	0.97[ASN][1000 genomes]
rs2642363	0.87[ASN][1000 genomes]
rs2642364	0.87[ASN][1000 genomes]
rs2642366	0.87[ASN][1000 genomes]
rs2642368	0.87[ASN][1000 genomes]
rs2687351	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28392906	0.89[ASN][1000 genomes]
rs2934719	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2948447	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133827	0.89[ASN][1000 genomes]
rs35019987	1.00[ASN][1000 genomes]
rs35935697	0.92[ASN][1000 genomes]
rs3736047	0.89[ASN][1000 genomes]
rs3808553	0.92[ASN][1000 genomes]
rs3808554	0.92[ASN][1000 genomes]
rs3808556	0.92[ASN][1000 genomes]
rs3808559	0.89[ASN][1000 genomes]
rs4734698	1.00[ASN][1000 genomes]
rs62525511	0.92[ASN][1000 genomes]
rs7008838	0.86[ASN][1000 genomes]
rs7012843	0.94[ASN][1000 genomes]
rs827530	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs827534	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs827535	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs827536	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs827547	0.86[EUR][1000 genomes]
rs827550	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs827552	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs827554	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs827578	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs827579	0.99[ASN][1000 genomes]
rs827580	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs827581	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs827582	0.99[ASN][1000 genomes]
rs827583	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs827584	0.99[ASN][1000 genomes]
rs827585	0.90[ASN][1000 genomes]
rs827586	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs827587	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs827588	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844136	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs865461	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs865462	0.89[AMR][1000 genomes];0.92[EUR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104321400-104358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:104328200-104355800	Weak transcription	Gastric	stomach
3	chr8:104328200-104361200	Weak transcription	Pancreas	Pancrea
4	chr8:104342400-104357600	Weak transcription	Placenta	Placenta
5	chr8:104342400-104360000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:104343200-104355800	Weak transcription	HUVEC	blood vessel
7	chr8:104343800-104357600	Weak transcription	Adipose Nuclei	Adipose
8	chr8:104343800-104357600	Weak transcription	Ovary	ovary
9	chr8:104349200-104355600	Weak transcription	NH-A	brain
10	chr8:104350400-104355400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:104350400-104355400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:104350400-104355600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:104350400-104355600	Weak transcription	Left Ventricle	heart
14	chr8:104350400-104355600	Weak transcription	NHDF-Ad	bronchial
15	chr8:104350400-104357400	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:104351800-104356200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:104351800-104360200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:104352400-104357200	Weak transcription	Aorta	Aorta
19	chr8:104352600-104355600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:104352600-104355600	Weak transcription	HSMM	muscle
21	chr8:104352600-104355600	Weak transcription	Osteobl	bone
22	chr8:104352600-104356000	Weak transcription	HSMMtube	muscle
23	chr8:104352600-104356600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:104352600-104357000	Weak transcription	HMEC	breast
25	chr8:104352600-104357000	Weak transcription	NHEK	skin
26	chr8:104352800-104355000	Weak transcription	NHLF	lung
27	chr8:104352800-104355200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:104352800-104356600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:104352800-104357000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:104353600-104355400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:104353800-104356800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:104354000-104355600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:104354200-104359800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:104354800-104355000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:104354800-104355200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:104354800-104355800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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