Variant report

Variant	rs11973185
Chromosome Location	chr7:70691739-70691740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10227106	1.00[AMR][1000 genomes]
rs10233052	1.00[AMR][1000 genomes]
rs10262011	1.00[AMR][1000 genomes]
rs11974065	1.00[AMR][1000 genomes]
rs11974138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11974315	1.00[AMR][1000 genomes]
rs11975356	1.00[AMR][1000 genomes]
rs11976420	1.00[AMR][1000 genomes]
rs11980728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17143004	1.00[AMR][1000 genomes]
rs28454261	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57584337	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57793774	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58101867	1.00[AMR][1000 genomes]
rs59049780	1.00[AMR][1000 genomes]
rs61175396	1.00[AMR][1000 genomes]
rs6962909	1.00[AMR][1000 genomes]
rs6968577	1.00[AMR][1000 genomes]
rs6978549	1.00[AMR][1000 genomes]
rs73364041	1.00[AMR][1000 genomes]
rs73364047	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365927	1.00[AMR][1000 genomes]
rs73365932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365946	1.00[AMR][1000 genomes]
rs73365949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv1801758	chr7:70689429-70692400	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70667000-70701400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70684200-70692400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:70686000-70692800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:70686800-70692800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:70687000-70700600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:70688000-70694000	Weak transcription	Right Ventricle	heart
7	chr7:70688000-70701200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:70689600-70692800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:70689800-70692800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:70690400-70697200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:70691200-70692000	Enhancers	Left Ventricle	heart
12	chr7:70691400-70692000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:70691600-70693600	Enhancers	Ovary	ovary

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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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