Variant report

Variant	rs2363073
Chromosome Location	chr2:30796008-30796009
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30793897..30796151-chr2:30800848..30803806,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10197664	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10205934	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10495776	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs1096110	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11127276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1113661	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676852	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678346	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1252644	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12612080	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12616814	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12621663	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12714308	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464817	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2593432	0.83[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes]
rs2593438	0.87[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap]
rs2609927	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6712951	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs711242	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71412838	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs736256	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs7602714	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829626	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829628	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829668	0.88[EUR][1000 genomes]
rs9789517	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
4	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:30759200-30805600	Weak transcription	K562	blood
6	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
8	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:30783400-30806000	Weak transcription	GM12878-XiMat	blood
10	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:30784000-30797400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:30784000-30812200	Weak transcription	NH-A	brain
14	chr2:30784600-30798800	Weak transcription	Liver	Liver
15	chr2:30784800-30802400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:30784800-30804000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:30785200-30806800	Weak transcription	Lung	lung
18	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:30785800-30802800	Weak transcription	Dnd41	blood
21	chr2:30786200-30806400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:30786400-30797600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:30786600-30797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:30786600-30797800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:30786600-30808200	Weak transcription	Left Ventricle	heart
26	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:30786800-30797200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:30786800-30806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:30786800-30807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:30789000-30797600	Weak transcription	Pancreas	Pancrea
33	chr2:30789000-30799600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
35	chr2:30789200-30810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
37	chr2:30789600-30797600	Weak transcription	NHLF	lung
38	chr2:30789800-30799400	Weak transcription	Adipose Nuclei	Adipose
39	chr2:30789800-30805400	Weak transcription	Ovary	ovary
40	chr2:30790200-30802400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:30790400-30811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:30790800-30797200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:30790800-30812200	Weak transcription	Right Ventricle	heart
44	chr2:30791200-30797400	Weak transcription	Fetal Heart	heart
45	chr2:30791200-30801600	Weak transcription	A549	lung
46	chr2:30792200-30797200	Weak transcription	Fetal Thymus	thymus
47	chr2:30792400-30797200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:30792400-30799400	Weak transcription	HepG2	liver
49	chr2:30792400-30810200	Weak transcription	NHEK	skin
50	chr2:30792600-30802400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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