Variant report

Variant	rs2969945
Chromosome Location	chr11:57503261-57503262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57498498..57505272-chr11:57506931..57510531,11	K562	blood:
2	chr11:57477285..57482620-chr11:57501167..57505357,7	K562	blood:
3	chr11:57501261..57504172-chr11:57508526..57511499,2	MCF-7	breast:
4	chr11:57501102..57503769-chr11:57528231..57530550,2	MCF-7	breast:
5	chr11:57498498..57504801-chr11:57505226..57510317,13	K562	blood:
6	chr11:57477995..57481370-chr11:57501885..57503453,4	K562	blood:

Variant related genes	Relation type
ENSG00000211450	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000254732	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10792117	0.82[AFR][1000 genomes]
rs11229168	1.00[AMR][1000 genomes]
rs12283589	1.00[AMR][1000 genomes]
rs12292393	1.00[MEX][hapmap]
rs1553826	0.85[AFR][1000 genomes]
rs1588435	0.85[AFR][1000 genomes]
rs1704775	1.00[AMR][1000 genomes]
rs1941721	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2509806	1.00[AMR][1000 genomes]
rs2911725	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2926660	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926663	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2956980	0.80[AFR][1000 genomes]
rs2956983	0.89[AFR][1000 genomes]
rs2956984	1.00[AMR][1000 genomes]
rs2969941	0.85[AFR][1000 genomes]
rs2969942	0.85[AFR][1000 genomes]
rs3016261	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs3016262	0.89[AFR][1000 genomes]
rs3016263	0.85[AFR][1000 genomes]
rs3016264	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs3016293	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs522773	1.00[MEX][hapmap]
rs593915	0.82[AFR][1000 genomes]
rs600251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs603420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs610801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs621683	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs621731	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635536	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs653915	1.00[AMR][1000 genomes]
rs660400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs667459	0.86[AFR][1000 genomes]
rs682785	0.95[AFR][1000 genomes]
rs686303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948282	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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 target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57481000-57508400	Weak transcription	Aorta	Aorta
2	chr11:57481200-57508400	Weak transcription	Fetal Brain Male	brain
3	chr11:57481400-57505000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:57481400-57506000	Weak transcription	Pancreas	Pancrea
5	chr11:57481600-57505000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:57481600-57505000	Weak transcription	Fetal Kidney	kidney
7	chr11:57481600-57505000	Weak transcription	NH-A	brain
8	chr11:57481600-57506200	Weak transcription	Colonic Mucosa	Colon
9	chr11:57481600-57508400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:57481800-57505000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:57481800-57505000	Weak transcription	Fetal Lung	lung
12	chr11:57482000-57505000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:57482000-57505000	Weak transcription	NHLF	lung
14	chr11:57482000-57505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:57482000-57505200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:57482000-57508200	Weak transcription	Brain Substantia Nigra	brain
17	chr11:57482200-57505000	Weak transcription	Brain Anterior Caudate	brain
18	chr11:57482200-57505000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:57482200-57505200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:57482200-57508200	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:57482400-57504800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:57482400-57505000	Weak transcription	Brain Angular Gyrus	brain
23	chr11:57482400-57508000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:57482400-57508200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:57482400-57508200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:57482400-57508200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:57482600-57508000	Weak transcription	Small Intestine	intestine
28	chr11:57486000-57504800	Weak transcription	Primary B cells from cord blood	blood
29	chr11:57486000-57505000	Weak transcription	Adipose Nuclei	Adipose
30	chr11:57486000-57505200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:57486000-57505200	Weak transcription	Spleen	Spleen
32	chr11:57486000-57505800	Weak transcription	Gastric	stomach
33	chr11:57486000-57508400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:57486200-57505200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:57487600-57505000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:57488200-57504600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:57488200-57505200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:57488200-57506200	Weak transcription	NHDF-Ad	bronchial
39	chr11:57488600-57505200	Weak transcription	HSMMtube	muscle
40	chr11:57488800-57505800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:57489000-57505000	Weak transcription	Liver	Liver
42	chr11:57489400-57505000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:57489600-57504800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:57489800-57504800	Weak transcription	Osteobl	bone
45	chr11:57489800-57505000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:57489800-57505000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:57490800-57505800	Weak transcription	Left Ventricle	heart
48	chr11:57490800-57506200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:57492000-57504800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:57492000-57505200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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