Variant report

Variant	rs2593432
Chromosome Location	chr2:30813049-30813050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30799595..30803220-chr2:30812142..30815504,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10197664	0.91[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs10205934	0.83[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap]
rs10495776	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1096110	0.91[CEU][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes]
rs11127276	0.83[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap]
rs1113661	0.81[EUR][1000 genomes]
rs11676852	0.87[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes]
rs12612080	0.83[EUR][1000 genomes]
rs12616814	0.89[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12621663	0.87[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs12714308	0.84[EUR][1000 genomes]
rs1464817	0.82[CEU][hapmap];0.87[CHB][hapmap];0.82[EUR][1000 genomes]
rs1562415	0.83[ASN][1000 genomes]
rs2248777	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2363073	0.83[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes]
rs2593428	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2593438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602774	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602805	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2609922	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6712951	0.91[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs6718730	0.87[CHB][hapmap]
rs736256	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7562252	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7602714	0.87[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs829626	0.87[CEU][hapmap];0.92[JPT][hapmap]
rs829628	0.83[CEU][hapmap];0.92[JPT][hapmap]
rs9789517	0.87[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]

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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv1826356	chr2:30809843-30841108	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
10	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
11	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:30792800-30818400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:30792800-30818800	Weak transcription	Fetal Kidney	kidney
14	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:30796600-30827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:30798000-30814200	Weak transcription	Fetal Thymus	thymus
17	chr2:30798000-30827600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:30798400-30839600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:30807400-30831200	Weak transcription	K562	blood
20	chr2:30807600-30818200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:30807800-30822800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:30808000-30817400	Weak transcription	GM12878-XiMat	blood
23	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:30808400-30818600	Weak transcription	Gastric	stomach
25	chr2:30809800-30816600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:30809800-30822200	Weak transcription	Primary T cells from cord blood	blood
27	chr2:30810200-30818200	Weak transcription	Primary B cells from cord blood	blood
28	chr2:30811200-30821200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:30811200-30821600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:30811400-30824800	Weak transcription	Aorta	Aorta
31	chr2:30811400-30834400	Weak transcription	Psoas Muscle	Psoas
32	chr2:30811600-30822800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:30811600-30863000	Weak transcription	Ovary	ovary
34	chr2:30811800-30813200	Enhancers	Fetal Heart	heart
35	chr2:30811800-30827000	Weak transcription	Left Ventricle	heart
36	chr2:30813000-30813200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:30813000-30813400	Weak transcription	Fetal Lung	lung
38	chr2:30813000-30834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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