Variant report

Variant	rs493227
Chromosome Location	chr1:57566739-57566740
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10493215	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs1359735	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs523285	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs529122	0.87[ASN][1000 genomes]
rs533532	0.87[ASN][1000 genomes]
rs844329	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57551400-57622000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57556800-57568800	Weak transcription	Right Atrium	heart
3	chr1:57559000-57568600	Weak transcription	Left Ventricle	heart
4	chr1:57562200-57567000	Weak transcription	Fetal Heart	heart
5	chr1:57562400-57567000	Weak transcription	Fetal Brain Female	brain
6	chr1:57565600-57569000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:57566400-57567800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:57566600-57566800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:57566600-57566800	Enhancers	NHLF	lung
10	chr1:57566600-57567000	Enhancers	HMEC	breast
11	chr1:57566600-57567200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:57566600-57567200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:57566600-57567200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:57566600-57567400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:57566600-57567400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:57566600-57567400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:57566600-57567400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:57566600-57567400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:57566600-57567400	Enhancers	NHDF-Ad	bronchial
20	chr1:57566600-57567600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:57566600-57567600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:57566600-57567600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:57566600-57568000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:57566600-57568000	Enhancers	NHEK	skin
25	chr1:57566600-57568800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:57566600-57569400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:57566600-57569400	Enhancers	Fetal Lung	lung

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