Variant report

Variant	rs12294071
Chromosome Location	chr11:17956074-17956075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10766445	1.00[AMR][1000 genomes]
rs11024439	0.86[AFR][1000 genomes]
rs11024463	1.00[YRI][hapmap]
rs11024483	1.00[YRI][hapmap]
rs12272369	1.00[AMR][1000 genomes]
rs12273117	0.83[AFR][1000 genomes]
rs12273244	1.00[AMR][1000 genomes]
rs12281058	1.00[AMR][1000 genomes]
rs12281767	1.00[AMR][1000 genomes]
rs12285352	1.00[AMR][1000 genomes]
rs12286341	1.00[AMR][1000 genomes]
rs12290104	1.00[AMR][1000 genomes]
rs12292912	0.92[YRI][hapmap]
rs12294948	1.00[YRI][hapmap]
rs12295423	0.86[YRI][hapmap]
rs16934928	1.00[YRI][hapmap]
rs16934941	1.00[YRI][hapmap]
rs28643319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120654	0.93[YRI][hapmap]
rs7129230	0.93[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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	156 gene(s)	inside rSNPs	diseases
2	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv832079	chr11:17927967-18047743	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr11:17838400-17971600	Weak transcription	Gastric	stomach
2	chr11:17886000-17965200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:17896000-17968000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:17896400-17968000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:17906000-17970200	Weak transcription	Lung	lung
6	chr11:17914600-17965400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:17915800-17966000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:17920600-17976000	Weak transcription	Esophagus	oesophagus
9	chr11:17928600-17970200	Weak transcription	Thymus	Thymus
10	chr11:17933000-17956800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:17934400-18033600	Weak transcription	Small Intestine	intestine
12	chr11:17937600-17977000	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:17937800-17965800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:17940000-17976400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:17943600-17975400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:17943800-17992800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:17944000-17964600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:17944000-17975600	Weak transcription	HSMM	muscle
19	chr11:17944000-18026600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:17945000-17965400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:17945000-17974000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:17945200-17967600	Weak transcription	Adipose Nuclei	Adipose
23	chr11:17945200-17974800	Weak transcription	GM12878-XiMat	blood
24	chr11:17945400-17960400	Weak transcription	Dnd41	blood
25	chr11:17945400-17961800	Weak transcription	Brain Angular Gyrus	brain
26	chr11:17945400-17962200	Weak transcription	Ovary	ovary
27	chr11:17945400-17975400	Weak transcription	Pancreas	Pancrea
28	chr11:17945400-18010000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:17945400-18033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:17945600-17961000	Weak transcription	Right Ventricle	heart
31	chr11:17945600-17969600	Weak transcription	Fetal Brain Female	brain
32	chr11:17945600-17972400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:17946200-17975400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:17948000-17970200	Weak transcription	Spleen	Spleen
35	chr11:17948600-17967600	Weak transcription	Aorta	Aorta
36	chr11:17948600-17967800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:17948800-17981400	Weak transcription	Fetal Brain Male	brain
38	chr11:17949200-17967600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:17949400-17969800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr11:17949600-17972600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:17949600-17974200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:17949800-17965400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:17949800-17968400	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:17950000-17965000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:17950000-17965200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:17950200-17975600	Weak transcription	Fetal Stomach	stomach
47	chr11:17951800-17956600	Weak transcription	A549	lung
48	chr11:17952400-17961200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:17952400-17965000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:17952600-17966000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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