Variant report

Variant	rs6450531
Chromosome Location	chr5:59095233-59095234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10061253	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs1011644	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs1370230	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs159609	0.83[ASN][1000 genomes]
rs17742664	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs185351	0.85[ASN][1000 genomes]
rs1910789	0.82[CHB][hapmap]
rs1992112	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs2164661	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs256356	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2938784	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2938785	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2963824	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298058	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs298061	0.91[CHB][hapmap]
rs298063	0.82[CHB][hapmap]
rs298067	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs298072	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs298084	0.82[CHB][hapmap]
rs298091	0.82[CHB][hapmap]
rs298093	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs298096	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4235477	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6450527	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs6450529	0.88[EUR][1000 genomes]
rs6450532	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6869459	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6875753	0.82[CHB][hapmap]
rs7701573	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs7701748	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs905834	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs965864	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59086600-59095400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:59086800-59095400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:59087400-59095800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:59087400-59106000	Weak transcription	Aorta	Aorta
5	chr5:59089800-59095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:59090000-59095400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:59090000-59095800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:59090600-59095600	Weak transcription	Brain Anterior Caudate	brain
9	chr5:59091400-59096400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:59092400-59095600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:59093200-59096000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:59093800-59096200	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:59094000-59096400	Enhancers	Fetal Brain Male	brain
14	chr5:59094200-59096600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:59094400-59096000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:59094400-59096000	Enhancers	Fetal Kidney	kidney
17	chr5:59094400-59096000	Flanking Active TSS	Hela-S3	cervix
18	chr5:59094400-59096600	Enhancers	HMEC	breast
19	chr5:59094600-59095400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:59094600-59095600	Weak transcription	Colonic Mucosa	Colon
21	chr5:59094600-59095600	Enhancers	Small Intestine	intestine
22	chr5:59094600-59095800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:59094600-59095800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:59094600-59096000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:59094600-59096000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:59094600-59096000	Enhancers	Primary B cells from cord blood	blood
27	chr5:59094600-59096000	Enhancers	Primary T cells from cord blood	blood
28	chr5:59094600-59096000	Enhancers	Fetal Intestine Large	intestine
29	chr5:59094600-59096000	Flanking Active TSS	NHEK	skin
30	chr5:59094600-59096400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:59094600-59096400	Enhancers	Brain Hippocampus Middle	brain
32	chr5:59094800-59095400	Flanking Active TSS	HUVEC	blood vessel
33	chr5:59094800-59095400	Active TSS	NHDF-Ad	bronchial
34	chr5:59094800-59095600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr5:59094800-59095600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:59094800-59095800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:59094800-59095800	Enhancers	HSMM	muscle
38	chr5:59094800-59096000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr5:59094800-59096000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr5:59094800-59096000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:59094800-59096000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr5:59094800-59096000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:59094800-59096000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:59094800-59096000	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr5:59094800-59096000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr5:59094800-59096000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr5:59094800-59096000	Flanking Active TSS	GM12878-XiMat	blood
48	chr5:59094800-59096000	Enhancers	NH-A	brain
49	chr5:59094800-59096200	Enhancers	Primary hematopoietic stem cells	blood
50	chr5:59094800-59096200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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