Variant report

Variant	rs55928072
Chromosome Location	chr11:36440112-36440113
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	chr11:36432298..36434335-chr11:36439830..36441750,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs331484	0.91[EUR][1000 genomes]
rs56175619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484854	0.88[EUR][1000 genomes]
rs744894	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890264	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:74 , 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	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
5	chr11:36413200-36441600	Weak transcription	HSMMtube	muscle
6	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:36423400-36441800	Weak transcription	HMEC	breast
9	chr11:36425800-36441400	Weak transcription	Fetal Kidney	kidney
10	chr11:36431200-36453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
12	chr11:36432200-36442000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:36432600-36452200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:36432800-36440600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:36432800-36440600	Weak transcription	NHEK	skin
16	chr11:36433200-36448600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:36433400-36442600	Weak transcription	Small Intestine	intestine
18	chr11:36433400-36452600	Weak transcription	Left Ventricle	heart
19	chr11:36433600-36442800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:36433800-36471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:36434200-36441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:36434600-36440600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:36434600-36441800	Weak transcription	Adipose Nuclei	Adipose
24	chr11:36435000-36441600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:36435000-36441600	Weak transcription	Fetal Thymus	thymus
26	chr11:36435000-36441800	Weak transcription	Osteobl	bone
27	chr11:36435000-36442400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr11:36435000-36443200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:36435000-36443800	Weak transcription	Lung	lung
30	chr11:36435000-36447600	Weak transcription	Brain Substantia Nigra	brain
31	chr11:36435000-36448400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:36435200-36441600	Weak transcription	HSMM	muscle
33	chr11:36435200-36453400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:36435200-36463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:36436600-36441400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:36436800-36441600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:36436800-36441800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:36437000-36441600	Strong transcription	Fetal Intestine Small	intestine
39	chr11:36437000-36442200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:36437200-36441600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:36437400-36441800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:36437400-36441800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:36437600-36441800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:36437600-36442200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:36437800-36441400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:36437800-36441800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:36437800-36442600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr11:36437800-36444200	Strong transcription	Colonic Mucosa	Colon
49	chr11:36438000-36441200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:36438000-36441600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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