Variant report

Variant	rs2813704
Chromosome Location	chr1:216913146-216913147
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11572653	0.92[JPT][hapmap]
rs12737688	0.92[JPT][hapmap]
rs12757183	0.92[JPT][hapmap]
rs1339352	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1416620	0.83[GIH][hapmap]
rs2813702	0.83[YRI][hapmap]
rs871556	0.85[JPT][hapmap];0.81[YRI][hapmap]
rs871557	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs946473	0.83[YRI][hapmap]
rs946475	0.92[JPT][hapmap];0.81[YRI][hapmap]
rs956543	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv508694	chr1:216901014-216923883	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216897400-216958600	Weak transcription	Pancreas	Pancrea
2	chr1:216905200-216913200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:216907400-216913400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:216911600-216934200	Weak transcription	Psoas Muscle	Psoas
5	chr1:216912200-216914400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:216912600-216914000	Enhancers	Fetal Heart	heart
7	chr1:216912800-216913200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:216912800-216913400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:216912800-216913800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:216912800-216914400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:216913000-216913200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:216913000-216913400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:216913000-216913400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:216913000-216913800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:216913000-216913800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:216913000-216914000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:216913000-216914200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:216913000-216914400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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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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