Variant report

Variant	rs1202647
Chromosome Location	chr7:70663702-70663703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11977738	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1202644	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1202646	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1202649	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1202650	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1202653	0.80[EUR][1000 genomes]
rs1202654	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1202656	0.99[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1202657	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1202658	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1202660	0.93[ASN][1000 genomes]
rs1202661	0.83[EUR][1000 genomes]
rs1202663	0.88[ASN][1000 genomes]
rs1209074	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1212551	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1621935	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1636495	0.86[ASN][1000 genomes]
rs1796078	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1796079	0.88[ASN][1000 genomes]
rs1796082	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57743710	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6954525	0.80[ASN][1000 genomes]
rs6975042	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs719062	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[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	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	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70651600-70666600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:70652400-70664400	Weak transcription	Ovary	ovary
3	chr7:70655800-70665600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:70658000-70665200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:70661200-70665200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:70663200-70663800	Active TSS	Fetal Brain Male	brain
7	chr7:70663200-70664000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:70663200-70664400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:70663400-70664200	Enhancers	Aorta	Aorta
10	chr7:70663400-70664600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:70663400-70665200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:70663600-70663800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:70663600-70664000	Enhancers	Fetal Heart	heart
14	chr7:70663600-70665400	Enhancers	Fetal Lung	lung
15	chr7:70663600-70665400	Enhancers	Left Ventricle	heart

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