Variant report

Variant	rs7729912
Chromosome Location	chr5:58767649-58767650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10514860	1.00[JPT][hapmap]
rs11949561	1.00[JPT][hapmap]
rs12187079	1.00[JPT][hapmap]
rs12187448	1.00[JPT][hapmap]
rs16877169	1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs16889611	0.82[YRI][hapmap]
rs16889878	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs16889892	0.84[EUR][1000 genomes]
rs16889901	1.00[ASN][1000 genomes]
rs16889903	1.00[ASN][1000 genomes]
rs16889904	1.00[ASN][1000 genomes]
rs17728654	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17740749	1.00[JPT][hapmap]
rs17741233	1.00[JPT][hapmap]
rs17795596	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17795692	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17796040	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17796399	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17796824	1.00[JPT][hapmap]
rs17797601	1.00[JPT][hapmap]
rs1824154	0.81[EUR][1000 genomes]
rs2081092	0.88[EUR][1000 genomes]
rs2081093	1.00[JPT][hapmap]
rs2098699	1.00[JPT][hapmap]
rs4326095	1.00[JPT][hapmap]
rs4551023	1.00[JPT][hapmap]
rs4604141	0.87[EUR][1000 genomes]
rs56173502	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56349317	0.89[AFR][1000 genomes]
rs6450519	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs6861969	1.00[JPT][hapmap]
rs6871710	1.00[JPT][hapmap]
rs6884572	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs7717821	1.00[JPT][hapmap]
rs7737908	1.00[JPT][hapmap]
rs7738023	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv881707	chr5:58741491-58784102	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58754600-58780200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58756800-58775400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:58756800-58775600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:58759600-58768000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:58762000-58778800	Weak transcription	Aorta	Aorta
6	chr5:58762600-58780600	Weak transcription	Fetal Lung	lung
7	chr5:58763400-58768000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:58766000-58774800	Weak transcription	Brain Substantia Nigra	brain
9	chr5:58766400-58768000	Enhancers	A549	lung
10	chr5:58767000-58768200	Enhancers	Fetal Brain Male	brain
11	chr5:58767200-58767800	Enhancers	HUVEC	blood vessel
12	chr5:58767200-58771000	Weak transcription	Psoas Muscle	Psoas
13	chr5:58767400-58767800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:58767400-58768200	Enhancers	Fetal Brain Female	brain
15	chr5:58767400-58768400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:58767400-58768800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:58767600-58769600	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:58767600-58769600	Weak transcription	Rectal Smooth Muscle	rectum

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