Variant report

Variant	rs2186783
Chromosome Location	chr11:108432270-108432271
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: 23 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1940211	0.95[CEU][hapmap]
rs1940212	0.95[CEU][hapmap]
rs2155441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256083	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs2256362	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2256372	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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2640755	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2640756	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2640757	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2640758	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2852189	0.95[CEU][hapmap]
rs2852192	0.94[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs2852193	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2852194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852195	0.94[ASN][1000 genomes]
rs2852196	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4278482	0.95[CEU][hapmap]
rs55645834	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs767663	0.90[CEU][hapmap];0.81[CHB][hapmap]
rs767664	0.90[CEU][hapmap];0.81[CHB][hapmap];0.81[TSI][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2186783	KDELC2	cis	multi-tissue	Pritchard
rs2186783	KDELC2	cis	parietal	SCAN
rs2186783	KDELC2	Cis_1M	lymphoblastoid	RTeQTL

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	chr11:108423400-108432400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:108423400-108436000	Weak transcription	Liver	Liver
6	chr11:108423600-108441400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:108424200-108439400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:108426400-108432600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:108428600-108442000	Weak transcription	K562	blood
10	chr11:108429000-108432400	Enhancers	HSMMtube	muscle
11	chr11:108429200-108434600	Enhancers	HSMM	muscle
12	chr11:108430000-108432400	Enhancers	NH-A	brain
13	chr11:108430400-108432600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:108430400-108436600	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:108430800-108432400	Enhancers	NHDF-Ad	bronchial
16	chr11:108430800-108433400	Weak transcription	GM12878-XiMat	blood
17	chr11:108431000-108433200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:108431000-108434000	Weak transcription	Gastric	stomach
19	chr11:108431000-108434400	Enhancers	Osteobl	bone
20	chr11:108431000-108434600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:108431000-108436200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:108431200-108434400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:108431400-108432400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:108431400-108432400	Enhancers	NHLF	lung
25	chr11:108431400-108433200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:108432000-108432600	Enhancers	Fetal Kidney	kidney
27	chr11:108432200-108432400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:108432200-108432600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:108432200-108432600	Enhancers	Ovary	ovary
30	chr11:108432200-108432800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr11:108432200-108432800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:108432200-108432800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:108432200-108432800	Enhancers	Esophagus	oesophagus
34	chr11:108432200-108432800	Enhancers	Lung	lung
35	chr11:108432200-108432800	Enhancers	HMEC	breast
36	chr11:108432200-108433000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:108432200-108433000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:108432200-108433000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:108432200-108433000	Enhancers	Aorta	Aorta
40	chr11:108432200-108433200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:108432200-108434000	Enhancers	Fetal Lung	lung
42	chr11:108432200-108434200	Genic enhancers	NHEK	skin
43	chr11:108432200-108434400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:108432200-108434600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:108432200-108434600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:108432200-108434800	Genic enhancers	Placenta	Placenta
47	chr11:108432200-108435200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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