Variant report

Variant	rs56246930
Chromosome Location	chr7:84904040-84904041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10228775	0.92[ASN][1000 genomes]
rs10231846	0.92[ASN][1000 genomes]
rs10242267	0.92[ASN][1000 genomes]
rs10251098	0.92[ASN][1000 genomes]
rs10252813	0.92[ASN][1000 genomes]
rs11764041	0.88[ASN][1000 genomes]
rs11765225	0.88[ASN][1000 genomes]
rs11771648	0.92[ASN][1000 genomes]
rs11771887	0.92[ASN][1000 genomes]
rs1569113	0.92[ASN][1000 genomes]
rs17159762	0.92[ASN][1000 genomes]
rs17159779	0.83[ASN][1000 genomes]
rs17159780	0.83[ASN][1000 genomes]
rs17224427	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17224891	0.92[ASN][1000 genomes]
rs17225031	0.92[ASN][1000 genomes]
rs17316336	0.92[ASN][1000 genomes]
rs17316553	0.92[ASN][1000 genomes]
rs17316749	0.92[ASN][1000 genomes]
rs2178114	0.92[ASN][1000 genomes]
rs2191487	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4370460	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4534076	0.92[ASN][1000 genomes]
rs55723318	0.95[ASN][1000 genomes]
rs55799824	0.95[ASN][1000 genomes]
rs56238135	0.92[ASN][1000 genomes]
rs56259432	0.83[ASN][1000 genomes]
rs60667671	0.91[ASN][1000 genomes]
rs60740511	0.91[ASN][1000 genomes]
rs60932498	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61139517	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62459875	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62459876	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6943442	0.92[ASN][1000 genomes]
rs6943449	0.95[ASN][1000 genomes]
rs73192493	0.92[ASN][1000 genomes]
rs73194304	0.92[ASN][1000 genomes]
rs73194309	0.92[ASN][1000 genomes]
rs73194323	0.90[ASN][1000 genomes]
rs73194344	0.92[ASN][1000 genomes]
rs73194348	0.92[ASN][1000 genomes]
rs73194392	0.91[ASN][1000 genomes]
rs73194394	0.91[ASN][1000 genomes]
rs73194396	0.84[ASN][1000 genomes]
rs73194399	0.83[ASN][1000 genomes]
rs7806720	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7808114	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv888646	chr7:84754151-84905855	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1017834	chr7:84832489-85083958	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv538996	chr7:84832489-85083958	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv888647	chr7:84866308-85091003	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3327487	chr7:84901505-85320690	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84902400-84904600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:84902400-84906400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:84902600-84904400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:84902600-84906400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:84902600-84906400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:84902800-84904400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:84902800-84906400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:84903200-84905000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:84903800-84904200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:84903800-84905200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:84904000-84904800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:84904000-84905000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:84904000-84905000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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