Variant report

Variant	rs2292648
Chromosome Location	chr11:36447369-36447370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12418202	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12418274	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331478	0.83[CEU][hapmap]
rs331479	0.83[CEU][hapmap]
rs510428	0.82[CEU][hapmap]
rs890262	1.00[CEU][hapmap];0.99[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:78 , 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	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
3	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:36431200-36453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
7	chr11:36432600-36452200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:36433200-36448600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:36433400-36452600	Weak transcription	Left Ventricle	heart
10	chr11:36433800-36471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:36435000-36447600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:36435000-36448400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:36435200-36453400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:36435200-36463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:36438000-36450200	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:36440800-36452200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:36441000-36449400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:36441200-36447400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:36442200-36451800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:36442600-36449400	Weak transcription	Right Atrium	heart
21	chr11:36442600-36451200	Weak transcription	NHEK	skin
22	chr11:36442600-36462200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:36443000-36447400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr11:36443000-36453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:36443400-36448200	Weak transcription	A549	lung
26	chr11:36443600-36448000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:36443600-36448600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:36443600-36449200	Weak transcription	HMEC	breast
29	chr11:36443600-36451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:36443600-36451800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:36443600-36452600	Weak transcription	NHDF-Ad	bronchial
32	chr11:36443600-36453200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:36443800-36447400	Weak transcription	Adipose Nuclei	Adipose
34	chr11:36443800-36447400	Strong transcription	Fetal Intestine Small	intestine
35	chr11:36443800-36448200	Weak transcription	Osteobl	bone
36	chr11:36443800-36450200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:36443800-36457400	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:36444000-36447400	Strong transcription	Fetal Intestine Large	intestine
39	chr11:36444000-36448000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:36444000-36448000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:36444000-36471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:36444200-36448400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:36444200-36448400	Weak transcription	Lung	lung
44	chr11:36444200-36471400	Weak transcription	Small Intestine	intestine
45	chr11:36444400-36447400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:36444400-36447800	Weak transcription	NHLF	lung
47	chr11:36444400-36453000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:36444600-36447600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:36445000-36447400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:36445400-36449600	Enhancers	Fetal Muscle Leg	muscle

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