Variant report

Variant	rs9308700
Chromosome Location	chr2:115419663-115419664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10172749	0.93[AFR][1000 genomes]
rs10210493	0.91[AFR][1000 genomes]
rs12711801	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12995656	0.90[ASN][1000 genomes]
rs13022574	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7576892	0.93[AFR][1000 genomes]
rs7607402	0.90[AFR][1000 genomes]
rs9308698	0.86[AFR][1000 genomes]
rs9308699	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv431502	chr2:115139566-115617936	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv834338	chr2:115320185-115481229	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115419200-115419800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:115419200-115420200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr2:115419200-115420400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:115419200-115420400	Active TSS	Fetal Lung	lung
5	chr2:115419200-115420600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr2:115419200-115420600	Active TSS	Fetal Brain Female	brain
7	chr2:115419200-115420600	Active TSS	Stomach Smooth Muscle	stomach
8	chr2:115419400-115419800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr2:115419400-115419800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:115419400-115419800	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr2:115419400-115419800	Enhancers	Fetal Brain Male	brain
12	chr2:115419400-115419800	Active TSS	Ovary	ovary
13	chr2:115419400-115420000	Active TSS	Brain Hippocampus Middle	brain
14	chr2:115419400-115420000	Active TSS	Fetal Intestine Small	intestine
15	chr2:115419400-115420200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:115419400-115420200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr2:115419400-115420200	Active TSS	Brain Angular Gyrus	brain
18	chr2:115419400-115420200	Active TSS	Brain Cingulate Gyrus	brain
19	chr2:115419400-115420200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr2:115419400-115420200	Active TSS	Fetal Intestine Large	intestine
21	chr2:115419400-115420200	Active TSS	Right Atrium	heart
22	chr2:115419400-115420200	Active TSS	Right Ventricle	heart
23	chr2:115419400-115420200	Active TSS	Thymus	Thymus
24	chr2:115419400-115420400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:115419400-115420400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr2:115419400-115420400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:115419400-115420400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:115419400-115420400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:115419400-115420400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:115419400-115420400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:115419400-115420400	Active TSS	Primary B cells from cord blood	blood
32	chr2:115419400-115420400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr2:115419400-115420400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:115419400-115420400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:115419400-115420400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:115419400-115420400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:115419400-115420400	Active TSS	Aorta	Aorta
38	chr2:115419400-115420400	Active TSS	Fetal Kidney	kidney
39	chr2:115419400-115420400	Active TSS	Psoas Muscle	Psoas
40	chr2:115419400-115420400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr2:115419400-115420400	Active TSS	Rectal Smooth Muscle	rectum
42	chr2:115419400-115420400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
43	chr2:115419400-115420400	Active TSS	A549	lung
44	chr2:115419400-115420600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:115419400-115420600	Active TSS	Brain Anterior Caudate	brain
46	chr2:115419400-115420600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:115419400-115420600	Active TSS	Brain Substantia Nigra	brain
48	chr2:115419400-115420600	Active TSS	Colon Smooth Muscle	Colon
49	chr2:115419400-115420600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr2:115419400-115420800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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