Variant report

Variant	rs6658591
Chromosome Location	chr1:84592018-84592019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1021490	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1057738	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10782824	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10874428	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10874431	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10874432	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11163903	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11163905	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11163906	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11163907	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11163908	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11163911	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11163913	0.82[ASN][1000 genomes]
rs12057561	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12064926	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12094426	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12118723	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12128892	0.84[ASN][1000 genomes]
rs12132002	0.85[ASN][1000 genomes]
rs12132212	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12562031	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12565896	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12723299	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12748859	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12750691	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12759624	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12760594	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1402694	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1472243	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1521518	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1565823	0.86[EUR][1000 genomes]
rs1874070	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2037454	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2037455	0.81[EUR][1000 genomes]
rs2134646	0.82[EUR][1000 genomes]
rs2134647	0.82[EUR][1000 genomes]
rs2134648	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2134649	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2174186	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3768258	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4907194	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6576960	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6576962	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6576963	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6661492	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6695305	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6695851	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6696125	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6699600	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7512288	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7515264	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7515976	0.84[ASN][1000 genomes]
rs7532712	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7547892	0.85[ASN][1000 genomes]
rs903263	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs955492	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[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	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84569200-84599600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:84584000-84592600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:84584000-84609600	Weak transcription	HSMM	muscle
4	chr1:84584000-84609800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:84587800-84594400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:84588000-84618400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:84588200-84593600	Weak transcription	Brain Substantia Nigra	brain
8	chr1:84590600-84607400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:84591400-84592400	Strong transcription	Fetal Stomach	stomach
10	chr1:84591600-84592400	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr1:84591800-84592200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr1:84591800-84592200	ZNF genes & repeats	Ovary	ovary
13	chr1:84591800-84592400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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