Variant report

Variant	rs12280774
Chromosome Location	chr11:36224958-36224959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36215356..36218000-chr11:36222542..36225082,2	K562	blood:
2	chr11:36212490..36214095-chr11:36222766..36225748,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10466461	1.00[AMR][1000 genomes]
rs12275025	1.00[AMR][1000 genomes]
rs12277126	1.00[AMR][1000 genomes]
rs12291701	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483655	1.00[AMR][1000 genomes]
rs868065	0.82[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36208600-36231600	Weak transcription	HMEC	breast
2	chr11:36212400-36225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:36216600-36231600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:36217800-36226400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:36218000-36233400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:36218000-36252200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:36218200-36227000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:36218200-36233000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:36218400-36233000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:36218600-36227000	Weak transcription	HUVEC	blood vessel
11	chr11:36218600-36232800	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:36218800-36230200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:36218800-36230400	Weak transcription	Pancreas	Pancrea
14	chr11:36219200-36227000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:36219200-36232800	Weak transcription	Fetal Lung	lung
16	chr11:36219200-36248600	Weak transcription	Ovary	ovary
17	chr11:36219400-36225600	Weak transcription	Fetal Kidney	kidney
18	chr11:36220200-36226400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:36220200-36231600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:36220400-36226400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:36220400-36226600	Weak transcription	Fetal Intestine Large	intestine
22	chr11:36220400-36228600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:36220400-36231400	Weak transcription	NHEK	skin
24	chr11:36220600-36226800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:36220600-36233200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:36220600-36233600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:36220600-36241600	Weak transcription	HSMM	muscle
28	chr11:36221200-36225400	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:36221200-36226600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:36221200-36231800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:36221200-36233400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:36221400-36231600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:36221400-36235200	Weak transcription	Fetal Intestine Small	intestine
34	chr11:36221400-36248800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:36221800-36226800	Enhancers	Brain Germinal Matrix	brain
36	chr11:36222000-36239800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:36222200-36234600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:36222200-36235000	Weak transcription	Esophagus	oesophagus
39	chr11:36222800-36248800	Weak transcription	HSMMtube	muscle
40	chr11:36223000-36233200	Weak transcription	Brain Anterior Caudate	brain
41	chr11:36223400-36232600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:36224000-36226600	Weak transcription	Fetal Brain Male	brain
43	chr11:36224200-36226600	Weak transcription	Fetal Brain Female	brain
44	chr11:36224200-36230200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:36224800-36225800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:36224800-36226600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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