Variant report

Variant	rs72916752
Chromosome Location	chr6:70845637-70845638
allele	A/G
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:25)

rs_ID	r²[population]
rs10485243	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11964071	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712597	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2093374	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2145905	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3793057	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3806029	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3806039	0.84[ASN][1000 genomes]
rs3806043	0.94[ASN][1000 genomes]
rs3828770	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60319887	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916705	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916716	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72916722	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72916728	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916731	0.97[ASN][1000 genomes]
rs72916747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916750	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72916754	0.94[ASN][1000 genomes]
rs72916780	0.94[ASN][1000 genomes]
rs737330	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7755777	0.91[ASN][1000 genomes]
rs9454982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9454984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9454991	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026151	chr6:70621616-70946967	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv933674	chr6:70663616-70973112	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1026836	chr6:70727747-70849014	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv830683	chr6:70743422-70941190	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70834600-70845800	Strong transcription	Primary B cells from peripheral blood	blood
2	chr6:70842400-70875200	Weak transcription	GM12878-XiMat	blood
3	chr6:70844200-70846600	Weak transcription	Primary B cells from cord blood	blood
4	chr6:70844800-70846000	Enhancers	Pancreas	Pancrea
5	chr6:70845000-70846400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:70845000-70846400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:70845000-70846400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:70845400-70846000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr6:70845400-70846400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:70845400-70846400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:70845400-70846400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:70845400-70846600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:70845400-70849000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:70845600-70845800	ZNF genes & repeats	HSMMtube	muscle
15	chr6:70845600-70846800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:70845600-70849000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:70845600-70851600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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