Variant report

Variant	rs3741056
Chromosome Location	chr11:107992346-107992347
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10890813	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10890819	0.94[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10890820	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212515	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12226047	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12226342	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs228593	0.89[CEU][hapmap]
rs228606	0.90[JPT][hapmap]
rs4754297	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7114794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928764	0.81[ASN][1000 genomes]
rs920679	0.89[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1039549	chr11:107950572-108034548	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3741056	KDELC2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107991600-107992600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr11:107991600-107992600	Active TSS	Colonic Mucosa	Colon
3	chr11:107991600-107993400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:107991800-107992400	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr11:107991800-107992600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:107991800-107992600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:107991800-107992600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:107991800-107992600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr11:107991800-107992600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:107991800-107992600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:107991800-107992600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:107991800-107992600	Active TSS	HUVEC	blood vessel
13	chr11:107991800-107992600	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:107991800-107992600	Active TSS	NH-A	brain
15	chr11:107991800-107992800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:107991800-107992800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:107991800-107992800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr11:107991800-107992800	Active TSS	K562	blood
19	chr11:107991800-107992800	Active TSS	NHEK	skin
20	chr11:107991800-107992800	Active TSS	Osteobl	bone
21	chr11:107991800-107993000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr11:107991800-107993000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:107991800-107993000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:107991800-107993000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr11:107991800-107993000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr11:107991800-107993000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr11:107991800-107993000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr11:107991800-107993000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:107991800-107993000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:107991800-107993000	Active TSS	Brain Cingulate Gyrus	brain
31	chr11:107991800-107993000	Active TSS	Brain Germinal Matrix	brain
32	chr11:107991800-107993000	Active TSS	Brain Substantia Nigra	brain
33	chr11:107991800-107993000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr11:107991800-107993000	Active TSS	Fetal Brain Female	brain
35	chr11:107991800-107993000	Active TSS	Fetal Kidney	kidney
36	chr11:107991800-107993000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:107991800-107993000	Active TSS	Rectal Smooth Muscle	rectum
38	chr11:107991800-107993000	Active TSS	GM12878-XiMat	blood
39	chr11:107991800-107993000	Active TSS	Hela-S3	cervix
40	chr11:107991800-107993000	Active TSS	HSMM	muscle
41	chr11:107991800-107993000	Active TSS	HSMMtube	muscle
42	chr11:107991800-107993200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr11:107991800-107993200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:107991800-107993200	Active TSS	Brain Angular Gyrus	brain
45	chr11:107991800-107993200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:107991800-107993400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr11:107991800-107993400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:107991800-107993400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:107991800-107993400	Active TSS	Fetal Muscle Trunk	muscle
50	chr11:107991800-107993600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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