Variant report

Variant	rs6693734
Chromosome Location	chr1:193307444-193307445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:109968567..109969502-chr1:193307347..193307847,2	Hela-S3	cervix:
2	chr1:193224553..193225319-chr1:193307364..193308130,2	MCF-7	breast:
3	chr1:193296415..193298204-chr1:193307426..193309237,2	K562	blood:
4	chr1:193151597..193152150-chr1:193307348..193307916,2	MCF-7	breast:
5	chr1:193152206..193152849-chr1:193306909..193307798,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143106	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10737622	0.86[CEU][hapmap]
rs10754047	0.85[CEU][hapmap]
rs10754048	0.90[CEU][hapmap]
rs10754049	0.90[CEU][hapmap]
rs10754052	0.90[CEU][hapmap]
rs10754054	0.84[EUR][1000 genomes]
rs10754055	0.86[EUR][1000 genomes]
rs10801179	0.90[CEU][hapmap]
rs10801183	0.90[CEU][hapmap]
rs10801194	0.86[EUR][1000 genomes]
rs10921325	0.90[CEU][hapmap]
rs10921336	0.83[EUR][1000 genomes]
rs10921343	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10921344	0.80[ASN][1000 genomes]
rs12025186	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12025393	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12032958	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12034095	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037055	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12040365	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12040832	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12041558	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12041893	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12047390	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12048579	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12124282	0.87[ASN][1000 genomes]
rs12145954	0.80[ASN][1000 genomes]
rs1221502	0.89[EUR][1000 genomes]
rs1325197	0.85[CEU][hapmap]
rs1339961	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1361404	0.95[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1361405	0.95[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1616234	0.86[EUR][1000 genomes]
rs1632444	0.86[EUR][1000 genomes]
rs16835282	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16835304	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16835319	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16835320	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16835338	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1749429	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1749430	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1749431	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1749432	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1769999	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1770000	0.87[ASN][1000 genomes]
rs1972344	0.83[EUR][1000 genomes]
rs1972345	0.89[EUR][1000 genomes]
rs2050799	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2182106	0.90[CEU][hapmap]
rs2254646	0.86[EUR][1000 genomes]
rs2275506	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2370029	0.90[CEU][hapmap]
rs2477549	0.87[EUR][1000 genomes]
rs2486842	0.82[EUR][1000 genomes]
rs2486843	0.87[ASN][1000 genomes]
rs4379660	0.90[CEU][hapmap]
rs4428863	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4657848	0.90[CEU][hapmap]
rs4657854	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4657855	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4657856	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4657858	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs475163	0.81[EUR][1000 genomes]
rs497362	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs503265	0.86[EUR][1000 genomes]
rs515964	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs523402	0.83[EUR][1000 genomes]
rs524701	0.83[EUR][1000 genomes]
rs531327	0.99[ASN][1000 genomes]
rs543788	0.86[EUR][1000 genomes]
rs560900	0.89[EUR][1000 genomes]
rs569656	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs571029	0.84[EUR][1000 genomes]
rs578639	0.89[EUR][1000 genomes]
rs59264807	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6428152	0.86[CEU][hapmap]
rs6428154	0.90[CEU][hapmap]
rs6428159	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs6428163	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6428166	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6662104	0.87[ASN][1000 genomes]
rs6665666	0.90[CEU][hapmap]
rs6671476	0.86[EUR][1000 genomes]
rs6673271	0.90[CEU][hapmap]
rs6675833	0.90[CEU][hapmap]
rs6676878	0.90[CEU][hapmap]
rs6680224	0.90[CEU][hapmap]
rs6697195	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6702762	0.88[ASN][1000 genomes]
rs693519	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs7518792	0.86[CEU][hapmap]
rs7528595	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7534504	0.84[ASN][1000 genomes]
rs7543029	0.87[ASN][1000 genomes]
rs7550521	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs817136	0.83[EUR][1000 genomes]
rs817138	0.81[EUR][1000 genomes]
rs817140	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs817142	0.83[EUR][1000 genomes]
rs817143	0.83[EUR][1000 genomes]
rs843844	0.90[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193303800-193308000	Enhancers	HSMM	muscle
2	chr1:193305800-193317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:193306600-193308000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:193306600-193308200	Enhancers	NHDF-Ad	bronchial
5	chr1:193306800-193308200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:193306800-193309000	Enhancers	Osteobl	bone
7	chr1:193307000-193307600	Enhancers	GM12878-XiMat	blood
8	chr1:193307000-193308200	Enhancers	NHLF	lung
9	chr1:193307200-193307600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:193307200-193308000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:193307200-193308400	Weak transcription	Fetal Intestine Large	intestine
12	chr1:193307400-193307600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:193307400-193308000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:193307400-193308400	Weak transcription	Fetal Intestine Small	intestine
15	chr1:193307400-193308400	Weak transcription	HSMMtube	muscle

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