Variant report

Variant	rs7596272
Chromosome Location	chr2:182520995-182520996
allele	A/C
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]
rs10201723	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13032839	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1372120	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17198745	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17270924	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17270931	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1801262	0.90[EUR][1000 genomes]
rs1967351	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368223	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2583016	0.90[EUR][1000 genomes]
rs3910660	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3910663	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3910664	0.87[EUR][1000 genomes]
rs4666571	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666791	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666793	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62190012	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602326	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs935087	0.88[EUR][1000 genomes];0.85[ASN][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182520000-182521600	Active TSS	Fetal Intestine Large	intestine
2	chr2:182520000-182522000	Active TSS	Right Atrium	heart
3	chr2:182520000-182522200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:182520200-182521000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:182520200-182521800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:182520200-182521800	Active TSS	Fetal Intestine Small	intestine
7	chr2:182520200-182521800	Active TSS	NHLF	lung
8	chr2:182520400-182521000	Active TSS	Brain Hippocampus Middle	brain
9	chr2:182520400-182521200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr2:182520400-182521200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:182520400-182521400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:182520400-182521800	Active TSS	Aorta	Aorta
13	chr2:182520400-182521800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr2:182520400-182522000	Active TSS	Duodenum Mucosa	Duodenum
15	chr2:182520400-182522200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:182520600-182521000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr2:182520600-182521200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
18	chr2:182520600-182521800	Active TSS	Brain Anterior Caudate	brain
19	chr2:182520600-182522200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:182520800-182521000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:182520800-182521000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
22	chr2:182520800-182521000	Bivalent Enhancer	Osteobl	bone
23	chr2:182520800-182521200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr2:182520800-182522000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:182520800-182522000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr2:182520800-182522000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:182520800-182522200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:182520800-182522200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:182520800-182522200	Bivalent/Poised TSS	A549	lung

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