Variant report

Variant	rs13023792
Chromosome Location	chr2:31301555-31301556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31296323..31299006-chr2:31301351..31302915,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10490518	0.82[EUR][1000 genomes]
rs10490519	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs10865087	0.87[EUR][1000 genomes]
rs11124241	0.83[EUR][1000 genomes]
rs1122261	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs12463945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12466133	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12471972	0.80[EUR][1000 genomes]
rs12993947	0.86[EUR][1000 genomes]
rs12994752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13006348	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs13021484	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13035341	0.95[EUR][1000 genomes]
rs1862976	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1991105	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2098787	0.81[CEU][hapmap]
rs2113490	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2194464	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2194465	0.87[EUR][1000 genomes]
rs2194470	0.87[EUR][1000 genomes]
rs2194471	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2216829	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs2365193	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2365195	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs2886303	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs3919588	0.82[EUR][1000 genomes]
rs4337517	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4630806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6543601	0.82[CEU][hapmap]
rs6708428	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs6748774	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs6760378	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs749709	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs749710	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs749711	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7565904	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs7592634	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs880618	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv961714	chr2:31298724-31305343	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:31284000-31301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
5	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
6	chr2:31294000-31301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
8	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:31299000-31301600	Weak transcription	NHDF-Ad	bronchial
10	chr2:31299200-31301600	Weak transcription	Fetal Brain Female	brain
11	chr2:31299400-31301600	Weak transcription	NHEK	skin
12	chr2:31299400-31301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:31299400-31304600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:31299800-31301600	Weak transcription	HMEC	breast
15	chr2:31300600-31302600	Enhancers	Brain Germinal Matrix	brain
16	chr2:31300600-31302800	Weak transcription	Esophagus	oesophagus
17	chr2:31300800-31304000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:31301000-31301600	Enhancers	Fetal Brain Male	brain
19	chr2:31301000-31303800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:31301000-31304600	Weak transcription	Fetal Kidney	kidney
21	chr2:31301200-31304800	Weak transcription	Fetal Lung	lung
22	chr2:31301200-31306600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:31301400-31301600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:31301400-31301800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:31301400-31301800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:31301400-31303000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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