Variant report

Variant	rs11821531
Chromosome Location	chr11:46480388-46480389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11038876	1.00[AMR][1000 genomes]
rs11038880	0.85[LWK][hapmap];1.00[AMR][1000 genomes]
rs11038901	0.96[LWK][hapmap];1.00[AMR][1000 genomes]
rs11038934	0.87[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.93[YRI][hapmap]
rs11819818	0.96[LWK][hapmap]
rs11827702	1.00[AMR][1000 genomes]
rs11827909	0.85[LWK][hapmap];1.00[AMR][1000 genomes]
rs12278517	0.96[LWK][hapmap]
rs12285596	1.00[AMR][1000 genomes]
rs12290327	0.96[LWK][hapmap];1.00[AMR][1000 genomes]
rs2229163	0.86[ASW][hapmap];0.96[LWK][hapmap];1.00[AMR][1000 genomes]
rs7129348	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942614	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7952678	0.93[LWK][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46455200-46488800	Weak transcription	Hela-S3	cervix
2	chr11:46455400-46492200	Weak transcription	A549	lung
3	chr11:46456600-46493600	Weak transcription	Colonic Mucosa	Colon
4	chr11:46456800-46494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:46456800-46515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:46464200-46489200	Weak transcription	Thymus	Thymus
7	chr11:46464200-46489400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:46464200-46513000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:46464400-46489600	Weak transcription	Placenta	Placenta
10	chr11:46465000-46513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:46465200-46489200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:46465200-46489400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:46465200-46489400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:46465200-46489400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:46465200-46494600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:46465200-46504400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:46465400-46483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:46465400-46489400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:46465600-46489400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:46465600-46511200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:46465800-46486800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:46466000-46488800	Weak transcription	Dnd41	blood
23	chr11:46466200-46496200	Weak transcription	GM12878-XiMat	blood
24	chr11:46468000-46493600	Weak transcription	Right Ventricle	heart
25	chr11:46468400-46482600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:46468400-46485400	Weak transcription	Right Atrium	heart
27	chr11:46468400-46489400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:46468400-46492200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:46468600-46489400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:46468600-46493800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:46468800-46485400	Weak transcription	Fetal Stomach	stomach
32	chr11:46470400-46489000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:46470800-46497600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:46473000-46483800	Weak transcription	NHDF-Ad	bronchial
35	chr11:46473000-46493600	Weak transcription	Ovary	ovary
36	chr11:46473200-46485000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:46473200-46485000	Weak transcription	Fetal Heart	heart
38	chr11:46473200-46485800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:46473200-46490200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:46473200-46492200	Weak transcription	NH-A	brain
41	chr11:46473200-46492400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:46475600-46482600	Weak transcription	HepG2	liver
43	chr11:46475600-46486400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:46475600-46487200	Weak transcription	Stomach Mucosa	stomach
45	chr11:46476800-46486200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:46477000-46483000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:46477200-46480600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr11:46477600-46485000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:46477600-46485400	Weak transcription	Brain Anterior Caudate	brain
50	chr11:46478000-46482600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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