Variant report

Variant	rs6861969
Chromosome Location	chr5:58786445-58786446
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10514860	0.84[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11949561	0.83[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12187079	0.83[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12187448	1.00[JPT][hapmap]
rs17728654	1.00[JPT][hapmap]
rs17740749	0.84[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs17740767	0.83[EUR][1000 genomes]
rs17741233	1.00[JPT][hapmap]
rs17795596	1.00[JPT][hapmap]
rs17795692	1.00[JPT][hapmap]
rs17796040	1.00[JPT][hapmap]
rs17796824	0.83[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs17797601	0.84[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2081093	1.00[JPT][hapmap]
rs2098699	1.00[JPT][hapmap]
rs4326095	0.83[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4551023	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs56396168	0.85[EUR][1000 genomes]
rs72767801	0.84[EUR][1000 genomes]
rs72767802	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72769704	0.83[EUR][1000 genomes]
rs7703658	0.80[CEU][hapmap]
rs7717821	1.00[JPT][hapmap]
rs7729912	1.00[JPT][hapmap]
rs7737908	1.00[JPT][hapmap]

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	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58783800-58787800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:58784000-58791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:58784000-58792200	Weak transcription	Psoas Muscle	Psoas
4	chr5:58784000-58793200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:58784400-58787800	Weak transcription	Stomach Mucosa	stomach
6	chr5:58784400-58788400	Enhancers	A549	lung
7	chr5:58784600-58787000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:58784600-58791000	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:58784600-58797000	Weak transcription	Fetal Lung	lung
10	chr5:58784800-58790000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:58785400-58787800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:58785800-58787200	Enhancers	Pancreatic Islets	Pancreatic Islet

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