Variant report

Variant	rs11127276
Chromosome Location	chr2:30794215-30794216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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];0.97[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10205934	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[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];0.88[ASN][1000 genomes]
rs1113661	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11676852	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11678346	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1252644	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12612080	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12616814	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12621663	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12714308	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1464817	0.88[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2363073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2593432	0.83[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap]
rs2593438	0.87[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap]
rs2609927	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6712951	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs711242	0.88[EUR][1000 genomes]
rs71412838	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[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];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829626	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829628	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829668	0.88[EUR][1000 genomes]
rs9789517	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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:70 , 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	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
5	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:30759200-30805600	Weak transcription	K562	blood
7	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
9	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:30781200-30795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:30783400-30806000	Weak transcription	GM12878-XiMat	blood
12	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:30783800-30796000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:30784000-30797400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:30784000-30812200	Weak transcription	NH-A	brain
17	chr2:30784600-30798800	Weak transcription	Liver	Liver
18	chr2:30784800-30802400	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:30784800-30804000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:30785000-30794400	Weak transcription	HMEC	breast
21	chr2:30785200-30806800	Weak transcription	Lung	lung
22	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:30785800-30802800	Weak transcription	Dnd41	blood
25	chr2:30786200-30806400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:30786400-30797600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:30786600-30794400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:30786600-30797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:30786600-30797800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:30786600-30808200	Weak transcription	Left Ventricle	heart
31	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:30786800-30795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:30786800-30797200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:30786800-30806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:30786800-30807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:30787800-30795600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:30788200-30794800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:30789000-30795200	Weak transcription	Small Intestine	intestine
41	chr2:30789000-30797600	Weak transcription	Pancreas	Pancrea
42	chr2:30789000-30799600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
44	chr2:30789200-30810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
46	chr2:30789600-30797600	Weak transcription	NHLF	lung
47	chr2:30789800-30799400	Weak transcription	Adipose Nuclei	Adipose
48	chr2:30789800-30805400	Weak transcription	Ovary	ovary
49	chr2:30790200-30802400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:30790400-30811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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