Variant report

Variant	rs4512153
Chromosome Location	chr5:90407022-90407023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90405182..90407708-chr5:90411248..90414003,2	MCF-7	breast:
2	chr5:90287058..90289338-chr5:90406662..90408469,2	K562	blood:
3	chr5:90405497..90409184-chr5:90675252..90678679,4	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10063704	0.92[CEU][hapmap]
rs10454910	0.91[YRI][hapmap]
rs10942625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188249	0.86[YRI][hapmap]
rs12518689	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12652491	0.83[AFR][1000 genomes]
rs12657388	0.88[AFR][1000 genomes]
rs13154380	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1808084	0.92[CEU][hapmap]
rs1852732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367282	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367283	0.92[CEU][hapmap]
rs4386756	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs4489092	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4608951	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731652	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90395400-90415200	Weak transcription	Left Ventricle	heart
2	chr5:90396200-90422800	Weak transcription	Esophagus	oesophagus
3	chr5:90401600-90431800	Weak transcription	K562	blood
4	chr5:90402200-90407200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:90402400-90413600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:90403000-90415600	Weak transcription	Right Atrium	heart
7	chr5:90403000-90431600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:90403200-90431600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:90403400-90418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:90403400-90418800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:90405200-90407600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:90405200-90408200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:90405200-90408200	Enhancers	Brain Anterior Caudate	brain
14	chr5:90405200-90408200	Enhancers	NHDF-Ad	bronchial
15	chr5:90405400-90407800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:90405400-90408200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:90405400-90409000	Enhancers	Fetal Brain Male	brain
18	chr5:90405800-90410800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:90406000-90408000	Enhancers	Fetal Heart	heart
20	chr5:90406200-90407200	Enhancers	HSMM	muscle
21	chr5:90406200-90407400	Enhancers	Brain Substantia Nigra	brain
22	chr5:90406200-90407600	Enhancers	Colon Smooth Muscle	Colon
23	chr5:90406200-90407800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:90406200-90408000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:90406200-90408000	Enhancers	Adipose Nuclei	Adipose
26	chr5:90406200-90408000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:90406200-90408000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:90406200-90408000	Enhancers	Rectal Smooth Muscle	rectum
29	chr5:90406200-90408200	Enhancers	Brain Germinal Matrix	brain
30	chr5:90406200-90408400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr5:90406200-90409200	Enhancers	Fetal Brain Female	brain
32	chr5:90406400-90407200	Enhancers	Fetal Stomach	stomach
33	chr5:90406400-90407200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:90406400-90407200	Enhancers	NHLF	lung
35	chr5:90406400-90408000	Enhancers	Brain Angular Gyrus	brain
36	chr5:90406600-90407800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:90406600-90408800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:90406600-90409400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr5:90406600-90421800	Weak transcription	Small Intestine	intestine
40	chr5:90406800-90407200	Active TSS	Stomach Smooth Muscle	stomach
41	chr5:90406800-90407400	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:90406800-90407400	Weak transcription	Psoas Muscle	Psoas
43	chr5:90406800-90408000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:90406800-90414000	Weak transcription	Fetal Lung	lung
45	chr5:90406800-90418600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:90407000-90407200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr5:90407000-90407600	Enhancers	Brain Cingulate Gyrus	brain

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