Variant report

Variant	rs11739054
Chromosome Location	chr5:90419083-90419084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90418737..90421157-chr5:90426368..90428230,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10063704	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs10454910	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10942625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153127	0.84[AFR][1000 genomes]
rs12188249	0.93[YRI][hapmap]
rs12518689	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13154380	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1808084	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1852732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367280	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]
rs2367282	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367283	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4386756	0.93[YRI][hapmap]
rs4489092	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4512153	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]
rs4608951	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731652	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90396200-90422800	Weak transcription	Esophagus	oesophagus
2	chr5:90401600-90431800	Weak transcription	K562	blood
3	chr5:90403000-90431600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:90403200-90431600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:90406600-90421800	Weak transcription	Small Intestine	intestine
6	chr5:90410800-90419200	Weak transcription	Brain Anterior Caudate	brain
7	chr5:90411000-90421600	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:90414000-90420000	Enhancers	NHDF-Ad	bronchial
9	chr5:90414800-90420600	Enhancers	Stomach Smooth Muscle	stomach
10	chr5:90415000-90421800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:90415400-90419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:90415400-90419600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:90415400-90422600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:90415600-90419800	Enhancers	Adipose Nuclei	Adipose
15	chr5:90415600-90422000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:90416000-90420800	Weak transcription	Left Ventricle	heart
17	chr5:90416000-90420800	Weak transcription	Pancreas	Pancrea
18	chr5:90416000-90422200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:90416000-90422600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:90416000-90422600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:90416000-90430000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:90416200-90421600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:90416200-90421800	Weak transcription	Stomach Mucosa	stomach
24	chr5:90416600-90419200	Weak transcription	Aorta	Aorta
25	chr5:90416600-90421600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:90416600-90421800	Weak transcription	Fetal Stomach	stomach
27	chr5:90416600-90422200	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:90416600-90422600	Weak transcription	Lung	lung
29	chr5:90416800-90421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:90417400-90419800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:90417800-90420000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:90418000-90422200	Weak transcription	HMEC	breast
33	chr5:90418200-90419600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:90418400-90419600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:90418400-90419800	Enhancers	Rectal Smooth Muscle	rectum
36	chr5:90418400-90420200	Enhancers	Colon Smooth Muscle	Colon
37	chr5:90418400-90421800	Weak transcription	Fetal Brain Male	brain
38	chr5:90418600-90419200	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:90418600-90419200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr5:90418600-90419200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr5:90418600-90419400	Enhancers	Placenta	Placenta
42	chr5:90418600-90419400	Enhancers	Right Atrium	heart
43	chr5:90418600-90419400	Enhancers	Right Ventricle	heart
44	chr5:90418600-90420000	Enhancers	Ovary	ovary
45	chr5:90418600-90420400	Enhancers	NHLF	lung
46	chr5:90418600-90435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:90418800-90419400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:90418800-90419400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr5:90418800-90419400	Enhancers	Psoas Muscle	Psoas
50	chr5:90418800-90419600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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