Variant report

Variant	rs7527462
Chromosome Location	chr1:172862380-172862381
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	chr1:172861260..172863626-chr1:172948311..172950341,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10489276	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912488	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10912490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10912491	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12021711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12025176	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12037853	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12047983	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12136659	0.84[EUR][1000 genomes]
rs12403628	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12411259	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12728265	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12739009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12747422	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12748081	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2157453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157454	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187892	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2213742	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2213745	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2422257	1.00[JPT][hapmap]
rs35715673	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4145468	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4145469	1.00[JPT][hapmap]
rs4916198	0.87[EUR][1000 genomes]
rs4916283	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4916285	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55724017	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6425143	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6425145	0.94[EUR][1000 genomes]
rs6425146	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6661686	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6672776	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6688532	1.00[JPT][hapmap]
rs6699678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68143871	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7517810	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7527986	1.00[JPT][hapmap]
rs7539319	1.00[JPT][hapmap]
rs9286879	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3587	chr1:172836950-172882218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172852600-172862400	Weak transcription	Pancreas	Pancrea
2	chr1:172855400-172862400	Weak transcription	NH-A	brain
3	chr1:172857000-172862400	Weak transcription	Stomach Mucosa	stomach
4	chr1:172861400-172862600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:172861600-172862600	Enhancers	HUVEC	blood vessel
6	chr1:172861800-172863000	Enhancers	Left Ventricle	heart
7	chr1:172861800-172863000	Flanking Active TSS	Hela-S3	cervix
8	chr1:172861800-172863200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:172862000-172862400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:172862000-172863200	Enhancers	Psoas Muscle	Psoas
11	chr1:172862000-172864000	Enhancers	A549	lung
12	chr1:172862000-172864200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:172862200-172862600	Enhancers	Adipose Nuclei	Adipose
14	chr1:172862200-172862600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:172862200-172862800	Weak transcription	NHDF-Ad	bronchial
16	chr1:172862200-172863000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:172862200-172863200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:172862200-172863800	Enhancers	Dnd41	blood
19	chr1:172862200-172864400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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