Variant report

Variant	rs62189833
Chromosome Location	chr2:182239917-182239918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11690881	0.95[ASN][1000 genomes]
rs17198633	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17198689	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17198696	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17198703	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17198710	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17198717	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17270868	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17270882	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17270889	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17270896	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17270903	0.95[ASN][1000 genomes]
rs17365432	0.80[ASN][1000 genomes]
rs35262123	0.95[ASN][1000 genomes]
rs62180252	0.80[ASN][1000 genomes]
rs62180253	0.85[ASN][1000 genomes]
rs62180258	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62182269	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62189855	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62189857	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62189858	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62189859	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6726597	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6726903	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9646799	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182235600-182240600	Enhancers	HSMMtube	muscle
2	chr2:182236800-182241200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:182237600-182248400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:182237800-182243400	Weak transcription	Thymus	Thymus
5	chr2:182237800-182249600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:182238000-182241000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:182238000-182258200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:182238400-182241000	Weak transcription	Dnd41	blood
9	chr2:182239400-182240000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:182239400-182240200	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:182239400-182240200	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:182239400-182240200	Enhancers	Fetal Thymus	thymus
13	chr2:182239400-182240400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:182239400-182240600	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:182239400-182240800	Enhancers	Brain Germinal Matrix	brain
16	chr2:182239400-182240800	Flanking Active TSS	GM12878-XiMat	blood
17	chr2:182239400-182241400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:182239600-182240000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:182239600-182240000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:182239600-182240200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:182239600-182240200	Enhancers	Fetal Brain Male	brain
22	chr2:182239600-182240400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:182239600-182240400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:182239600-182240600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:182239800-182240200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:182239800-182240200	Enhancers	Adipose Nuclei	Adipose
27	chr2:182239800-182240200	Enhancers	Brain Angular Gyrus	brain
28	chr2:182239800-182240200	Active TSS	Brain Anterior Caudate	brain
29	chr2:182239800-182240200	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr2:182239800-182240200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr2:182239800-182240200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr2:182239800-182240400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:182239800-182240400	Enhancers	HSMM	muscle
34	chr2:182239800-182240600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr2:182239800-182240600	Enhancers	Fetal Brain Female	brain
36	chr2:182239800-182241400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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