Variant report

Variant	rs12281380
Chromosome Location	chr11:36434379-36434380
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36432655..36434682-chr11:36437304..36439623,2	K562	blood:

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

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

rs_ID	r²[population]
rs11033603	0.85[AFR][1000 genomes]
rs11033612	0.83[AFR][1000 genomes]
rs11828593	1.00[AMR][1000 genomes]
rs6484841	1.00[AMR][1000 genomes]
rs7952256	1.00[AMR][1000 genomes]
rs9630171	1.00[EUR][1000 genomes]

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	esv2761662	chr11:36429857-36434542	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:36403000-36438200	Weak transcription	Ovary	ovary
4	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
6	chr11:36413200-36441600	Weak transcription	HSMMtube	muscle
7	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:36418200-36436800	Weak transcription	Pancreas	Pancrea
9	chr11:36420200-36434800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:36420200-36434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:36421400-36435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:36423400-36441800	Weak transcription	HMEC	breast
16	chr11:36425800-36439000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:36425800-36441400	Weak transcription	Fetal Kidney	kidney
18	chr11:36426200-36435200	Strong transcription	Fetal Intestine Small	intestine
19	chr11:36426400-36434400	Weak transcription	HSMM	muscle
20	chr11:36426400-36435200	Strong transcription	Fetal Intestine Large	intestine
21	chr11:36428000-36435000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:36428200-36435000	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:36428800-36435000	Enhancers	Fetal Thymus	thymus
24	chr11:36429200-36434800	Weak transcription	Stomach Mucosa	stomach
25	chr11:36429600-36436600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:36429800-36434600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:36430000-36434400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr11:36430000-36434800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr11:36430400-36435000	Enhancers	Brain Substantia Nigra	brain
30	chr11:36430800-36434400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:36431200-36434400	Weak transcription	Osteobl	bone
32	chr11:36431200-36434800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:36431200-36435200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:36431200-36453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:36431400-36434400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:36431400-36434600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr11:36431400-36435000	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr11:36431400-36435000	Genic enhancers	Duodenum Mucosa	Duodenum
39	chr11:36431800-36434600	Weak transcription	Thymus	Thymus
40	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
41	chr11:36432200-36442000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:36432400-36435000	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:36432600-36435000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:36432600-36435200	Enhancers	NH-A	brain
45	chr11:36432600-36436000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:36432600-36452200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:36432800-36434600	Enhancers	Brain Angular Gyrus	brain
48	chr11:36432800-36435000	Enhancers	Brain Hippocampus Middle	brain
49	chr11:36432800-36440600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:36432800-36440600	Weak transcription	NHEK	skin

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