Variant report

Variant	rs4287157
Chromosome Location	chr1:192598171-192598172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10801137	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10801138	0.85[CEU][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10921223	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10921225	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12046733	0.82[AFR][1000 genomes]
rs12123475	0.80[EUR][1000 genomes]
rs6658382	0.84[ASW][hapmap];0.81[CEU][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9287123	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9287124	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv467005	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv548659	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv275434	chr1:192584795-192598461	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192595400-192598400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:192596200-192602200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:192596400-192599600	Weak transcription	Stomach Mucosa	stomach
4	chr1:192596400-192601800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:192596800-192598400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:192596800-192598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:192597000-192605600	Enhancers	Fetal Lung	lung
8	chr1:192597200-192598400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:192597200-192598600	Enhancers	Left Ventricle	heart
10	chr1:192597600-192599000	Enhancers	Fetal Heart	heart
11	chr1:192597600-192599000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr1:192597800-192598600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:192597800-192598800	Enhancers	Right Ventricle	heart
14	chr1:192597800-192600000	Enhancers	Adipose Nuclei	Adipose
15	chr1:192597800-192602600	Enhancers	Liver	Liver
16	chr1:192598000-192598600	Enhancers	Aorta	Aorta
17	chr1:192598000-192598800	Weak transcription	Right Atrium	heart
18	chr1:192598000-192602000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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