Variant report

Variant	rs7583601
Chromosome Location	chr2:182520667-182520668
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10930974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991856	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13019917	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13029498	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13032132	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1473295	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1866888	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3863938	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3863939	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3910661	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3910662	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3910665	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3916026	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4018755	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4018756	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4666792	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6709122	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7570291	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582095	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182519600-182520800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:182520000-182521600	Active TSS	Fetal Intestine Large	intestine
3	chr2:182520000-182522000	Active TSS	Right Atrium	heart
4	chr2:182520000-182522200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:182520200-182521000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:182520200-182521800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:182520200-182521800	Active TSS	Fetal Intestine Small	intestine
8	chr2:182520200-182521800	Active TSS	NHLF	lung
9	chr2:182520400-182520800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
10	chr2:182520400-182520800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chr2:182520400-182521000	Active TSS	Brain Hippocampus Middle	brain
12	chr2:182520400-182521200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr2:182520400-182521200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:182520400-182521400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:182520400-182521800	Active TSS	Aorta	Aorta
16	chr2:182520400-182521800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:182520400-182522000	Active TSS	Duodenum Mucosa	Duodenum
18	chr2:182520400-182522200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:182520600-182520800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr2:182520600-182521000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr2:182520600-182521200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr2:182520600-182521800	Active TSS	Brain Anterior Caudate	brain
23	chr2:182520600-182522200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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