Variant report

Variant	rs4236247
Chromosome Location	chr7:70911123-70911124
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10950260	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771035	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12176602	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12540477	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13231355	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35375166	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4236248	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4236250	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4404817	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4535614	0.84[CHD][hapmap]
rs4585627	0.83[ASW][hapmap];0.83[GIH][hapmap];0.89[LWK][hapmap];0.82[MKK][hapmap];0.86[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs4717596	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4717598	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4719123	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4719124	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6460655	0.82[CEU][hapmap];0.85[YRI][hapmap]
rs6460656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6945351	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6963081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808818	0.92[LWK][hapmap];0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70888200-70923000	Weak transcription	Ovary	ovary
2	chr7:70903600-70912000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:70905000-70929000	Weak transcription	Right Atrium	heart
4	chr7:70908400-70911600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:70908400-70912400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:70908400-70912800	Weak transcription	Fetal Heart	heart
7	chr7:70908400-70922400	Weak transcription	Fetal Stomach	stomach
8	chr7:70908400-70935200	Weak transcription	Fetal Lung	lung
9	chr7:70908600-70911800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:70908600-70911800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:70908600-70912200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:70908600-70912600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:70908600-70912800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:70908600-70912800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:70908600-70921800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:70908600-70923000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:70909200-70918000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:70909200-70922200	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:70909600-70912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:70910400-70911200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:70911000-70912600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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