Variant report

Variant	rs893331
Chromosome Location	chr2:153394396-153394397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153390268..153392701-chr2:153393879..153395871,2	K562	blood:
2	chr2:153392705..153395187-chr2:153396758..153399412,2	K562	blood:
3	chr2:153392705..153395187-chr2:153396758..153400553,3	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	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10168692	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10168793	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10172230	0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs10182254	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10188611	0.82[ASN][1000 genomes]
rs10209069	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10211164	0.87[ASN][1000 genomes]
rs10931154	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11904088	0.90[ASN][1000 genomes]
rs12612608	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12613219	0.85[ASN][1000 genomes]
rs12619679	0.90[ASN][1000 genomes]
rs12619706	0.85[ASN][1000 genomes]
rs12622731	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13404703	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13427485	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16831307	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2346182	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2577182	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664592	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4664593	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7581544	0.85[ASN][1000 genomes]
rs9288108	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[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	chr2:153382400-153398800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
4	chr2:153384000-153398200	Weak transcription	HMEC	breast
5	chr2:153386200-153399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:153386200-153399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:153386800-153400000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:153389000-153398200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:153389800-153396200	Enhancers	Brain Hippocampus Middle	brain
10	chr2:153390400-153396400	Enhancers	Brain Anterior Caudate	brain
11	chr2:153390400-153399000	Enhancers	Brain Substantia Nigra	brain
12	chr2:153390600-153394400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:153390800-153395000	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:153391200-153394400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:153391400-153394800	Enhancers	Brain Angular Gyrus	brain
16	chr2:153391400-153403800	Weak transcription	Fetal Brain Female	brain
17	chr2:153391600-153398800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:153391800-153398000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:153391800-153399000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:153392000-153398200	Weak transcription	HepG2	liver
21	chr2:153392000-153398400	Weak transcription	NHDF-Ad	bronchial
22	chr2:153392800-153398800	Weak transcription	Placenta	Placenta
23	chr2:153392800-153400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:153392800-153401200	Weak transcription	Psoas Muscle	Psoas
25	chr2:153392800-153402800	Weak transcription	Fetal Intestine Large	intestine
26	chr2:153392800-153404600	Weak transcription	Left Ventricle	heart
27	chr2:153393000-153398400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:153393400-153397600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:153393400-153398200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:153393400-153399000	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:153393600-153398400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:153393600-153399000	Weak transcription	Adipose Nuclei	Adipose
33	chr2:153393800-153397400	Weak transcription	NHEK	skin
34	chr2:153393800-153397600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:153393800-153398600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:153394000-153398000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:153394000-153398400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:153394000-153398400	Weak transcription	Ovary	ovary
39	chr2:153394000-153398600	Weak transcription	Fetal Stomach	stomach
40	chr2:153394000-153398600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:153394000-153399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:153394000-153399200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:153394000-153399200	Weak transcription	Aorta	Aorta
44	chr2:153394000-153399800	Weak transcription	Fetal Lung	lung
45	chr2:153394000-153401400	Weak transcription	Fetal Brain Male	brain
46	chr2:153394200-153394600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:153394200-153397600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:153394200-153398800	Weak transcription	Fetal Muscle Leg	muscle

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