Variant report

Variant	rs12112912
Chromosome Location	chr7:80118913-80118914
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11977416	1.00[AMR][1000 genomes]
rs11983158	1.00[AMR][1000 genomes]
rs11984061	1.00[AMR][1000 genomes]
rs55683109	1.00[AMR][1000 genomes]
rs55936775	1.00[AMR][1000 genomes]
rs55955977	1.00[AMR][1000 genomes]
rs56070908	1.00[AMR][1000 genomes]
rs56118905	1.00[AMR][1000 genomes]
rs56280525	1.00[AMR][1000 genomes]
rs56321281	1.00[AMR][1000 genomes]
rs59650177	1.00[AMR][1000 genomes]
rs60477208	1.00[AMR][1000 genomes]
rs61320349	1.00[AMR][1000 genomes]
rs73708723	1.00[AMR][1000 genomes]
rs73711029	1.00[AMR][1000 genomes]
rs73711031	1.00[AMR][1000 genomes]
rs73711032	1.00[AMR][1000 genomes]
rs73711033	1.00[AMR][1000 genomes]
rs7793201	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv831042	chr7:79984079-80122312	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80113000-80127800	Weak transcription	Hela-S3	cervix
2	chr7:80116600-80119400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:80117200-80119000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:80117400-80119000	Enhancers	NHDF-Ad	bronchial
5	chr7:80118600-80120600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:80118600-80122800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:80118600-80127400	Weak transcription	NHEK	skin
8	chr7:80118800-80119000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:80118800-80120200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:80118800-80120600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:80118800-80121000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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