Variant report

Variant	rs2206363
Chromosome Location	chr1:172921404-172921405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172913673..172916975-chr1:172918949..172922757,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10489274	0.81[EUR][1000 genomes]
rs10798244	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10912501	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912502	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12402215	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12409216	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410129	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565596	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12567579	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12739009	1.00[JPT][hapmap]
rs1883475	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2051629	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2187893	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2206364	0.85[EUR][1000 genomes]
rs2206365	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2206366	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422257	1.00[JPT][hapmap]
rs4145469	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs4916285	1.00[JPT][hapmap]
rs4916287	0.82[EUR][1000 genomes]
rs4916288	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4916289	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4916290	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6668693	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6688532	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7527986	1.00[JPT][hapmap]
rs7539319	1.00[JPT][hapmap]
rs7539951	0.90[AMR][1000 genomes];0.96[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	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172915200-172924600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:172917000-172921800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:172918000-172923000	Weak transcription	HSMMtube	muscle
4	chr1:172918000-172929000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:172918600-172924200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:172919000-172923000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:172919800-172921600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:172919800-172921800	Enhancers	NHLF	lung
9	chr1:172920000-172922200	Enhancers	Fetal Lung	lung
10	chr1:172920400-172921600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:172920400-172921600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:172920400-172921800	Enhancers	HMEC	breast
13	chr1:172920400-172921800	Enhancers	NHEK	skin
14	chr1:172920600-172921800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:172920800-172921600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:172920800-172921600	Enhancers	Liver	Liver
17	chr1:172920800-172921600	Enhancers	HSMM	muscle
18	chr1:172920800-172921600	Enhancers	NHDF-Ad	bronchial
19	chr1:172920800-172921800	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr1:172920800-172922200	Enhancers	Hela-S3	cervix
21	chr1:172921000-172921600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:172921200-172921600	Enhancers	Fetal Stomach	stomach
23	chr1:172921200-172925600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:172921400-172924200	Weak transcription	Osteobl	bone
25	chr1:172921400-172924400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:172921400-172927200	Enhancers	HUVEC	blood vessel

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