Variant report

Variant	rs4442514
Chromosome Location	chr11:108432872-108432873
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	chr11:108430808..108434301-chr11:108434645..108436882,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10749920	0.84[CEU][hapmap]
rs10789666	0.84[CEU][hapmap]
rs10890852	0.84[CEU][hapmap]
rs10890853	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs10890858	1.00[CEU][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10890859	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs11212682	0.84[CEU][hapmap]
rs11212695	0.86[AMR][1000 genomes]
rs11212700	0.84[CEU][hapmap]
rs11212704	0.91[CEU][hapmap];0.82[GIH][hapmap]
rs11599962	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11824250	0.84[CEU][hapmap]
rs17092330	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17092334	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1940219	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155437	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2640756	0.88[JPT][hapmap]
rs2846407	0.83[CHB][hapmap];0.94[GIH][hapmap]
rs3741060	0.91[CEU][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4533001	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753844	0.84[CEU][hapmap]
rs4754325	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7104503	0.91[CEU][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	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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4442514	KDELC2	cis	Heart Left Ventricle	GTEx
rs4442514	KDELC2	Cis_1M	lymphoblastoid	RTeQTL
rs4442514	KDELC2	cis	lymphoblastoid	seeQTL
rs4442514	KDELC2	cis	Artery Tibial	GTEx
rs4442514	KDELC2	cis	parietal	SCAN
rs4442514	KDELC2	cis	multi-tissue	Pritchard
rs4442514	ACAT1	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108417200-108441400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:108422400-108441600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:108423000-108436000	Weak transcription	Fetal Intestine Small	intestine
4	chr11:108423400-108436000	Weak transcription	Liver	Liver
5	chr11:108423600-108441400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:108424200-108439400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:108428600-108442000	Weak transcription	K562	blood
8	chr11:108429200-108434600	Enhancers	HSMM	muscle
9	chr11:108430400-108436600	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:108430800-108433400	Weak transcription	GM12878-XiMat	blood
11	chr11:108431000-108433200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:108431000-108434000	Weak transcription	Gastric	stomach
13	chr11:108431000-108434400	Enhancers	Osteobl	bone
14	chr11:108431000-108434600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:108431000-108436200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:108431200-108434400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr11:108431400-108433200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:108432200-108433000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:108432200-108433000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:108432200-108433000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:108432200-108433000	Enhancers	Aorta	Aorta
22	chr11:108432200-108433200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:108432200-108434000	Enhancers	Fetal Lung	lung
24	chr11:108432200-108434200	Genic enhancers	NHEK	skin
25	chr11:108432200-108434400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:108432200-108434600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:108432200-108434600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:108432200-108434800	Genic enhancers	Placenta	Placenta
29	chr11:108432200-108435200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:108432400-108433000	Enhancers	Primary hematopoietic stem cells	blood
31	chr11:108432400-108433000	Genic enhancers	Placenta Amnion	Placenta Amnion
32	chr11:108432600-108433000	Enhancers	NH-A	brain
33	chr11:108432600-108433600	Weak transcription	Fetal Kidney	kidney
34	chr11:108432600-108434600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:108432800-108433000	Flanking Active TSS	HSMMtube	muscle
36	chr11:108432800-108433000	Enhancers	NHLF	lung
37	chr11:108432800-108433600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:108432800-108433800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:108432800-108433800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:108432800-108434200	Weak transcription	Esophagus	oesophagus
41	chr11:108432800-108434600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:108432800-108434600	Enhancers	NHDF-Ad	bronchial
43	chr11:108432800-108436200	Weak transcription	Lung	lung
44	chr11:108432800-108438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:108432800-108438600	Weak transcription	Pancreas	Pancrea
46	chr11:108432800-108441200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:108432800-108441600	Weak transcription	HMEC	breast

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