Variant report

Variant	rs2973446
Chromosome Location	chr5:90414407-90414408
allele	G/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	chr5:90399443..90402350-chr5:90413379..90415651,2	MCF-7	breast:
4	chr5:90414268..90419029-chr5:90677575..90681410,6	K562	blood:
5	chr5:90408615..90411255-chr5:90413057..90415567,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10037172	0.94[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1818349	0.90[ASN][1000 genomes]
rs1830364	0.90[ASN][1000 genomes]
rs2367279	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[ASN][1000 genomes]
rs2367284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697542	0.94[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2697548	0.89[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4244206	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7449334	0.90[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs9293558	0.94[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[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:45 , 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	chr5:90403000-90415600	Weak transcription	Right Atrium	heart
5	chr5:90403000-90431600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:90403200-90431600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:90403400-90418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:90403400-90418800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:90406600-90421800	Weak transcription	Small Intestine	intestine
10	chr5:90406800-90418600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:90407200-90415800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:90407600-90415000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:90407600-90416000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:90408200-90414600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:90409200-90418400	Weak transcription	Fetal Brain Female	brain
16	chr5:90410800-90414600	Weak transcription	Fetal Heart	heart
17	chr5:90410800-90414800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:90410800-90414800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:90410800-90415000	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:90410800-90415600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:90410800-90419200	Weak transcription	Brain Anterior Caudate	brain
22	chr5:90411000-90415000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:90411000-90415200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:90411000-90415600	Weak transcription	Adipose Nuclei	Adipose
25	chr5:90411000-90416200	Weak transcription	Fetal Stomach	stomach
26	chr5:90411000-90421600	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:90411200-90415000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:90411400-90414600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr5:90411400-90415000	Weak transcription	Aorta	Aorta
30	chr5:90411400-90415200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:90413600-90415000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:90413600-90415400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:90413800-90414800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:90413800-90415800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:90413800-90416200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:90414000-90416800	Enhancers	Fetal Lung	lung
37	chr5:90414000-90420000	Enhancers	NHDF-Ad	bronchial
38	chr5:90414200-90416600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:90414200-90417400	Enhancers	Colon Smooth Muscle	Colon
40	chr5:90414400-90414600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:90414400-90415400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:90414400-90415400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:90414400-90416200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:90414400-90416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:90414400-90416600	Enhancers	Fetal Intestine Small	intestine

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