Variant report

Variant	rs4278482
Chromosome Location	chr11:108422389-108422390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108422127..108426041-chr11:108463043..108466411,3	K562	blood:

Variant related genes	Relation type
ENSG00000110723	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10890858	0.93[JPT][hapmap]
rs10890859	0.94[JPT][hapmap]
rs1940211	1.00[CEU][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1940212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2186783	0.95[CEU][hapmap]
rs2256083	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2256362	0.95[CEU][hapmap]
rs2256372	0.95[CEU][hapmap]
rs2640753	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2640756	0.95[CEU][hapmap]
rs2640757	0.95[CEU][hapmap];0.83[CHB][hapmap]
rs2640758	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2640773	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2640774	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2852189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2852192	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2852193	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2852194	0.88[CEU][hapmap]
rs767663	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs767664	0.95[CEU][hapmap];0.85[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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4278482	KDELC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108385000-108422800	Weak transcription	Fetal Intestine Small	intestine
2	chr11:108409200-108423000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:108409600-108422600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:108410000-108422800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:108410200-108422400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:108414400-108422400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:108417200-108441400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:108419600-108423400	Enhancers	Liver	Liver
9	chr11:108420000-108424000	Enhancers	Placenta	Placenta
10	chr11:108420600-108422400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:108420800-108423000	Enhancers	Lung	lung
12	chr11:108420800-108423800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:108420800-108427600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:108421200-108422400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:108421200-108422400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:108421200-108422400	Weak transcription	Esophagus	oesophagus
17	chr11:108421600-108422600	Active TSS	NHLF	lung
18	chr11:108421800-108422600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:108421800-108422600	Enhancers	Fetal Heart	heart
20	chr11:108421800-108422800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:108421800-108422800	Enhancers	Right Atrium	heart
22	chr11:108421800-108423200	Flanking Active TSS	HSMMtube	muscle
23	chr11:108422000-108422600	Enhancers	Brain Anterior Caudate	brain
24	chr11:108422000-108422600	Enhancers	Fetal Lung	lung
25	chr11:108422000-108422800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:108422000-108422800	Enhancers	HSMM	muscle
27	chr11:108422000-108423000	Active TSS	NHDF-Ad	bronchial
28	chr11:108422000-108423400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:108422000-108423600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr11:108422200-108422400	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:108422200-108422400	Flanking Active TSS	Fetal Kidney	kidney
32	chr11:108422200-108422600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:108422200-108422600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:108422200-108422800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:108422200-108422800	Flanking Active TSS	NHEK	skin
36	chr11:108422200-108423000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:108422200-108423200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:108422200-108423200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:108422200-108423400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:108422200-108423600	Enhancers	Stomach Mucosa	stomach
41	chr11:108422200-108423600	Flanking Active TSS	K562	blood
42	chr11:108422200-108424200	Enhancers	Rectal Mucosa Donor 31	rectum

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