Variant report

Variant	rs73109163
Chromosome Location	chr12:60752858-60752859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr12:60752818-60752868	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60752778..60755096-chr12:60757481..60759676,2	K562	blood:

Variant related genes	Relation type
ENSG00000251822	TF binding region
ENSG00000251822	Chromatin interaction

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

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

rs_ID	r²[population]
rs11173348	1.00[EUR][1000 genomes]
rs11173363	1.00[EUR][1000 genomes]
rs11173369	1.00[EUR][1000 genomes]
rs11831127	1.00[EUR][1000 genomes]
rs11831587	1.00[EUR][1000 genomes]
rs11832299	1.00[EUR][1000 genomes]
rs11835954	1.00[EUR][1000 genomes]
rs11836045	1.00[EUR][1000 genomes]
rs11837627	1.00[EUR][1000 genomes]
rs12579013	0.85[ASN][1000 genomes]
rs12579713	1.00[EUR][1000 genomes]
rs12580881	1.00[EUR][1000 genomes]
rs12581293	1.00[EUR][1000 genomes]
rs12581979	1.00[EUR][1000 genomes]
rs12582010	1.00[EUR][1000 genomes]
rs17123722	0.85[ASN][1000 genomes]
rs55794080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55800300	1.00[EUR][1000 genomes]
rs55905809	1.00[EUR][1000 genomes]
rs55941783	1.00[EUR][1000 genomes]
rs56178609	1.00[EUR][1000 genomes]
rs57533761	1.00[EUR][1000 genomes]
rs57848253	1.00[EUR][1000 genomes]
rs58739436	1.00[EUR][1000 genomes]
rs58913061	1.00[EUR][1000 genomes]
rs59474956	1.00[EUR][1000 genomes]
rs61561862	1.00[EUR][1000 genomes]
rs7306958	1.00[EUR][1000 genomes]
rs7310477	1.00[EUR][1000 genomes]
rs73109153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73109201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73111650	1.00[EUR][1000 genomes]
rs73111657	1.00[EUR][1000 genomes]
rs73111669	1.00[EUR][1000 genomes]
rs73113476	1.00[EUR][1000 genomes]
rs73113496	1.00[EUR][1000 genomes]
rs73113502	1.00[EUR][1000 genomes]
rs73114735	1.00[EUR][1000 genomes]
rs73114791	1.00[EUR][1000 genomes]
rs73114794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73115184	1.00[EUR][1000 genomes]
rs73115194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73117117	1.00[EUR][1000 genomes]
rs73120658	1.00[EUR][1000 genomes]
rs73126606	0.85[ASN][1000 genomes]
rs7960722	1.00[EUR][1000 genomes]
rs867948	1.00[EUR][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	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832431	chr12:60626292-60809233	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1047466	chr12:60702221-61521156	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983465	chr12:60721408-60752940	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2762983	chr12:60735475-60767081	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3500240	chr12:60752085-60759033	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3500239	chr12:60752535-60758933	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60750800-60753000	Enhancers	Fetal Intestine Large	intestine

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