Variant report

Variant	rs1808084
Chromosome Location	chr5:90416392-90416393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90413771..90418676-chr5:90419460..90425678,7	K562	blood:
2	chr5:90414268..90417626-chr5:90676737..90680178,4	K562	blood:
3	chr5:90415624..90418676-chr5:90421411..90423997,3	K562	blood:
4	chr5:90414268..90419029-chr5:90677575..90681410,6	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10063704	1.00[CEU][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942625	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs11739054	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs12518689	0.88[CEU][hapmap]
rs13154380	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs1852732	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2367280	0.92[CEU][hapmap]
rs2367283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489092	0.89[CEU][hapmap]
rs4512153	0.92[CEU][hapmap]
rs4916845	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7707023	0.92[CEU][hapmap]
rs7731652	0.80[EUR][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:60 , 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	chr5:90403400-90418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:90403400-90418800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:90406600-90421800	Weak transcription	Small Intestine	intestine
8	chr5:90406800-90418600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:90409200-90418400	Weak transcription	Fetal Brain Female	brain
10	chr5:90410800-90419200	Weak transcription	Brain Anterior Caudate	brain
11	chr5:90411000-90421600	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:90414000-90416800	Enhancers	Fetal Lung	lung
13	chr5:90414000-90420000	Enhancers	NHDF-Ad	bronchial
14	chr5:90414200-90416600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:90414200-90417400	Enhancers	Colon Smooth Muscle	Colon
16	chr5:90414400-90416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:90414400-90416600	Enhancers	Fetal Intestine Small	intestine
18	chr5:90414600-90416600	Enhancers	Fetal Heart	heart
19	chr5:90414600-90418400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:90414600-90419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:90414800-90418600	Weak transcription	NHLF	lung
22	chr5:90414800-90420600	Enhancers	Stomach Smooth Muscle	stomach
23	chr5:90415000-90416600	Enhancers	Fetal Muscle Leg	muscle
24	chr5:90415000-90421800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:90415200-90416400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr5:90415200-90416600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:90415400-90416600	Enhancers	Fetal Intestine Large	intestine
28	chr5:90415400-90418600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:90415400-90418800	Weak transcription	Psoas Muscle	Psoas
30	chr5:90415400-90419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:90415400-90419600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:90415400-90422600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:90415600-90416400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:90415600-90416800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:90415600-90419800	Enhancers	Adipose Nuclei	Adipose
36	chr5:90415600-90422000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:90415800-90416400	Weak transcription	Lung	lung
38	chr5:90415800-90416600	Enhancers	Aorta	Aorta
39	chr5:90415800-90416600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr5:90415800-90416800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr5:90415800-90418200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:90415800-90418600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:90416000-90417000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr5:90416000-90417400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:90416000-90418400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:90416000-90418600	Weak transcription	Ovary	ovary
47	chr5:90416000-90418600	Weak transcription	Right Atrium	heart
48	chr5:90416000-90420800	Weak transcription	Left Ventricle	heart
49	chr5:90416000-90420800	Weak transcription	Pancreas	Pancrea
50	chr5:90416000-90422200	Weak transcription	Rectal Mucosa Donor 31	rectum

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