Variant report

Variant	rs6691232
Chromosome Location	chr1:172960595-172960596
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172855842..172858682-chr1:172958652..172961353,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1033465	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10465482	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10465506	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10732990	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10753068	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10798248	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798249	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912514	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1122312	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1159824	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1159825	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12064861	0.80[AFR][1000 genomes]
rs12077975	0.82[AFR][1000 genomes]
rs12083030	0.82[AFR][1000 genomes]
rs12086143	0.80[AFR][1000 genomes]
rs12090211	0.80[AFR][1000 genomes]
rs12091698	0.80[AFR][1000 genomes]
rs1467399	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1989627	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092357	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179426	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2206367	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2206368	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2206369	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2206370	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2206371	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2206372	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2206373	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2206375	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2206376	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223520	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2223521	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901695	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4494169	1.00[AMR][1000 genomes]
rs4916295	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6425193	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425196	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425197	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425198	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6659158	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6659338	0.95[ASN][1000 genomes]
rs6661650	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671875	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681826	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6688512	0.97[AFR][1000 genomes]
rs7416452	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513007	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7516072	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7516980	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7518615	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7526839	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7528210	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7531129	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7531536	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543619	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548474	0.82[AFR][1000 genomes]
rs7549493	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7551105	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7552799	0.82[AFR][1000 genomes]
rs7552839	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553670	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs960317	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960318	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172959000-172964200	Enhancers	HSMM	muscle
2	chr1:172959200-172961200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:172959200-172961200	Enhancers	HUVEC	blood vessel
4	chr1:172959400-172964000	Enhancers	NHDF-Ad	bronchial
5	chr1:172959600-172960800	Enhancers	HMEC	breast
6	chr1:172959600-172961000	Enhancers	Osteobl	bone
7	chr1:172959600-172961200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:172959600-172964200	Enhancers	HSMMtube	muscle
9	chr1:172959800-172960600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:172959800-172960600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:172959800-172960600	Enhancers	NHLF	lung
12	chr1:172959800-172961000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:172960000-172960600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:172960000-172960600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:172960000-172960800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:172960000-172961000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:172960000-172961400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:172960200-172960800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:172960200-172960800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:172960200-172960800	Enhancers	NH-A	brain
21	chr1:172960200-172961200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:172960400-172960600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:172960400-172960800	Enhancers	Rectal Mucosa Donor 31	rectum

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