Variant report

Variant	rs152312
Chromosome Location	chr5:59787816-59787817
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10514896	0.87[JPT][hapmap]
rs149079	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16877953	0.93[JPT][hapmap]
rs16877954	0.93[JPT][hapmap]
rs16877976	0.93[JPT][hapmap]
rs173591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs251726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs27224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2961773	0.87[JPT][hapmap]
rs37692	0.93[JPT][hapmap]
rs37707	0.87[JPT][hapmap]
rs37708	0.93[JPT][hapmap]
rs37761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs37762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42222	0.93[JPT][hapmap]
rs42328	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs615429	0.93[JPT][hapmap]
rs702552	0.82[CEU][hapmap];0.93[JPT][hapmap]
rs702554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs702557	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs702559	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59767200-59789000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59782000-59801000	Weak transcription	Fetal Brain Male	brain
3	chr5:59784200-59790600	Weak transcription	Brain Anterior Caudate	brain
4	chr5:59784600-59788800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:59784600-59789000	Weak transcription	NHDF-Ad	bronchial
6	chr5:59784600-59791200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:59784600-59791800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:59784600-59794200	Weak transcription	Gastric	stomach
9	chr5:59784800-59788800	Weak transcription	Stomach Mucosa	stomach
10	chr5:59784800-59793600	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:59785000-59788800	Weak transcription	HSMM	muscle
12	chr5:59785200-59788800	Weak transcription	Osteobl	bone
13	chr5:59785200-59791800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:59785200-59793400	Weak transcription	Fetal Stomach	stomach
15	chr5:59785600-59789000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:59785600-59789000	Weak transcription	HMEC	breast
17	chr5:59785800-59791000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:59786000-59790800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:59786400-59789800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:59786600-59788800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:59786600-59788800	Weak transcription	Aorta	Aorta
22	chr5:59786600-59790000	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:59787000-59788800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:59787000-59788800	Weak transcription	NHEK	skin
25	chr5:59787200-59789400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:59787200-59789800	Weak transcription	Brain Angular Gyrus	brain
27	chr5:59787200-59790200	Weak transcription	Brain Substantia Nigra	brain
28	chr5:59787200-59793400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr5:59787400-59788800	Weak transcription	A549	lung
30	chr5:59787400-59789400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:59787600-59791200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:59787800-59788400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:59787800-59788800	Weak transcription	HepG2	liver

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