Variant report

Variant	rs12622731
Chromosome Location	chr2:153383345-153383346
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153377446..153381563-chr2:153382108..153385052,5	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10165830	0.89[ASN][1000 genomes]
rs10168692	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10168793	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10172230	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10182254	0.84[ASN][1000 genomes]
rs10188611	0.82[ASN][1000 genomes]
rs10209069	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10211164	0.84[ASN][1000 genomes]
rs10931154	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11904088	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12612608	0.84[ASN][1000 genomes]
rs12613219	0.85[ASN][1000 genomes]
rs12619679	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12619706	0.85[ASN][1000 genomes]
rs13404703	0.84[ASN][1000 genomes]
rs13427485	0.85[ASN][1000 genomes]
rs16831307	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346182	0.85[ASN][1000 genomes]
rs2577182	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664592	0.85[ASN][1000 genomes]
rs4664593	0.85[ASN][1000 genomes]
rs7581544	0.85[ASN][1000 genomes]
rs893331	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9288108	0.86[AMR][1000 genomes];0.91[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	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS 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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153365600-153386000	Weak transcription	Fetal Stomach	stomach
3	chr2:153374600-153385000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:153375600-153385000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:153376000-153385200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:153376000-153388800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:153376200-153384800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:153376200-153384800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:153376600-153390600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:153378000-153385000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:153378400-153386200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:153378800-153383600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:153381000-153383600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:153381200-153384200	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:153381200-153388200	Enhancers	Brain Hippocampus Middle	brain
16	chr2:153381200-153388200	Enhancers	Brain Substantia Nigra	brain
17	chr2:153381400-153383400	Enhancers	Brain Angular Gyrus	brain
18	chr2:153382000-153385000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:153382200-153384800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:153382200-153385200	Weak transcription	HepG2	liver
21	chr2:153382400-153383400	Enhancers	HUVEC	blood vessel
22	chr2:153382400-153386800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:153382400-153393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:153382400-153398800	Weak transcription	Fetal Intestine Small	intestine
25	chr2:153382600-153384000	Enhancers	HMEC	breast
26	chr2:153382600-153386800	Weak transcription	Stomach Mucosa	stomach
27	chr2:153382800-153386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:153382800-153387000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:153383000-153384800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:153383000-153385000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:153383000-153385000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:153383000-153385400	Weak transcription	Small Intestine	intestine
33	chr2:153383000-153386000	Weak transcription	Adipose Nuclei	Adipose
34	chr2:153383000-153386400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:153383000-153387400	Weak transcription	Fetal Kidney	kidney
36	chr2:153383000-153387800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:153383000-153388000	Weak transcription	Psoas Muscle	Psoas
38	chr2:153383000-153390800	Weak transcription	Ovary	ovary
39	chr2:153383000-153391000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:153383000-153391200	Weak transcription	Aorta	Aorta
41	chr2:153383000-153392000	Weak transcription	Lung	lung
42	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
43	chr2:153383200-153383600	Weak transcription	Brain Anterior Caudate	brain
44	chr2:153383200-153384800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:153383200-153384800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:153383200-153384800	Weak transcription	Spleen	Spleen
47	chr2:153383200-153388400	Weak transcription	NHDF-Ad	bronchial
48	chr2:153383200-153393200	Weak transcription	NHEK	skin

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