Variant report

Variant	rs12563547
Chromosome Location	chr1:217075888-217075889
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1030849	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117718	0.81[ASN][1000 genomes]
rs11117720	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1436880	0.82[ASN][1000 genomes]
rs1436882	0.88[EUR][1000 genomes]
rs1898312	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576203	1.00[ASN][1000 genomes]
rs2576205	0.98[ASN][1000 genomes]
rs2576206	0.85[ASN][1000 genomes]
rs3795704	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61245105	0.91[EUR][1000 genomes]
rs61325680	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956977	0.91[EUR][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	nsv873179	chr1:217056893-217112871	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv873180	chr1:217073060-217112871	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217062600-217078000	Weak transcription	Pancreas	Pancrea
2	chr1:217062800-217076000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:217062800-217076200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:217062800-217087800	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:217067800-217076000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:217068200-217076000	Weak transcription	Left Ventricle	heart
7	chr1:217072200-217082800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:217073200-217076000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:217074200-217076400	Enhancers	HMEC	breast
10	chr1:217074400-217080000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:217074600-217076000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:217074600-217076000	Weak transcription	Fetal Heart	heart
13	chr1:217074600-217076000	Weak transcription	Fetal Lung	lung
14	chr1:217074600-217076400	Weak transcription	Fetal Brain Male	brain
15	chr1:217074600-217078800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:217075200-217078800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:217075400-217076600	Enhancers	NHEK	skin
18	chr1:217075400-217077200	Enhancers	Brain Hippocampus Middle	brain
19	chr1:217075600-217077000	Enhancers	Fetal Intestine Small	intestine
20	chr1:217075800-217077200	Enhancers	Fetal Intestine Large	intestine
21	chr1:217075800-217077400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:217075800-217077400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:217075800-217077400	Enhancers	HSMM	muscle
24	chr1:217075800-217079000	Enhancers	HepG2	liver

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