Variant report

Variant	rs12535970
Chromosome Location	chr7:80122536-80122537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10216027	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10269301	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10269846	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10270318	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10273230	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10276559	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10279893	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10280109	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11769919	0.98[ASN][1000 genomes]
rs12536759	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12666914	0.98[ASN][1000 genomes]
rs1404314	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1404315	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1524600	0.92[EUR][1000 genomes]
rs17154074	0.85[ASN][1000 genomes]
rs17154083	0.85[ASN][1000 genomes]
rs17154086	0.85[ASN][1000 genomes]
rs2177617	0.85[ASN][1000 genomes]
rs34193549	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59229896	0.85[ASN][1000 genomes]
rs59419187	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467217	0.92[EUR][1000 genomes]
rs6946786	0.85[ASN][1000 genomes]
rs6970109	0.92[EUR][1000 genomes]
rs6970260	0.85[ASN][1000 genomes]
rs6979450	0.92[EUR][1000 genomes]
rs73369038	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73369078	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73709182	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73709192	0.85[ASN][1000 genomes]
rs73709197	0.85[ASN][1000 genomes]
rs7777640	0.92[EUR][1000 genomes]
rs7786144	0.92[EUR][1000 genomes]
rs7800673	0.95[EUR][1000 genomes]
rs7804604	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1030961	chr7:80032525-80197468	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538991	chr7:80032525-80197468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv949205	chr7:80039695-80211200	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv888523	chr7:80088592-80142217	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv607680	chr7:80097576-80142217	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv464604	chr7:80121347-80142217	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv607681	chr7:80121347-80142217	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80113000-80127800	Weak transcription	Hela-S3	cervix
2	chr7:80118600-80122800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:80118600-80127400	Weak transcription	NHEK	skin
4	chr7:80120600-80128000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:80121200-80125200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:80121400-80128400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:80121400-80128400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:80122400-80123000	Enhancers	NHDF-Ad	bronchial

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