Variant report

Variant	rs73369038
Chromosome Location	chr7:80116435-80116436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10216027	0.97[EUR][1000 genomes]
rs10229347	1.00[ASN][1000 genomes]
rs10242727	0.96[ASN][1000 genomes]
rs10246832	0.96[ASN][1000 genomes]
rs10269301	0.93[EUR][1000 genomes]
rs10269846	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10270318	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10273230	0.93[EUR][1000 genomes]
rs10276559	0.93[EUR][1000 genomes]
rs10279893	0.93[EUR][1000 genomes]
rs10280109	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10280807	0.94[ASN][1000 genomes]
rs12535970	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12536759	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12666211	0.94[ASN][1000 genomes]
rs1404314	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1404315	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1524600	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34193549	0.82[EUR][1000 genomes]
rs59419187	1.00[EUR][1000 genomes]
rs6467192	0.91[ASN][1000 genomes]
rs6467212	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467217	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6961082	0.85[ASN][1000 genomes]
rs6970109	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6975345	0.93[ASN][1000 genomes]
rs6979450	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73369078	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73709182	0.96[EUR][1000 genomes]
rs7776757	0.90[ASN][1000 genomes]
rs7777640	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7779247	0.90[ASN][1000 genomes]
rs7780776	0.91[ASN][1000 genomes]
rs7786144	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7800673	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7802311	0.96[ASN][1000 genomes]
rs7804604	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7808426	0.93[ASN][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80110200-80116800	Weak transcription	Adipose Nuclei	Adipose
2	chr7:80110200-80116800	Weak transcription	Placenta	Placenta
3	chr7:80110400-80116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:80110800-80118400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:80111200-80116600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:80111600-80117600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:80111800-80116600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:80113000-80127800	Weak transcription	Hela-S3	cervix
9	chr7:80113200-80116600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:80113200-80117800	Weak transcription	NHEK	skin
11	chr7:80115400-80116600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:80115800-80116600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:80116200-80117600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:80116200-80118800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:80116400-80116800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:80116400-80116800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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