Variant report

Variant	rs767664
Chromosome Location	chr11:108437928-108437929
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1940211	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1940212	0.95[CEU][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2186783	0.90[CEU][hapmap];0.81[CHB][hapmap];0.81[TSI][hapmap]
rs2256083	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2256362	0.90[CEU][hapmap];0.81[CHB][hapmap];0.81[TSI][hapmap]
rs2256372	0.90[CEU][hapmap];0.81[CHB][hapmap];0.81[TSI][hapmap]
rs2640753	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2640755	0.90[ASN][1000 genomes]
rs2640756	0.90[CEU][hapmap];0.81[CHB][hapmap]
rs2640757	0.90[CEU][hapmap]
rs2640758	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2640773	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2640774	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2846407	0.95[JPT][hapmap]
rs2846423	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2852189	0.95[CEU][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2852192	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2852193	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2852194	0.88[CEU][hapmap];0.80[CHB][hapmap]
rs4278482	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs55645834	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs767663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs767664	KDELC2	cis	parietal	SCAN
rs767664	KDELC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 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	chr11:108423600-108441400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:108424200-108439400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:108428600-108442000	Weak transcription	K562	blood
6	chr11:108432800-108438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:108432800-108438600	Weak transcription	Pancreas	Pancrea
8	chr11:108432800-108441200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:108432800-108441600	Weak transcription	HMEC	breast
10	chr11:108433000-108444000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:108434600-108439200	Weak transcription	HSMMtube	muscle
12	chr11:108434600-108440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:108434600-108441200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:108434600-108441600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:108434600-108462400	Weak transcription	Gastric	stomach
16	chr11:108434800-108438600	Weak transcription	NHEK	skin
17	chr11:108436000-108440200	Strong transcription	Placenta	Placenta
18	chr11:108436400-108439600	Weak transcription	Lung	lung
19	chr11:108436600-108439600	Weak transcription	Esophagus	oesophagus
20	chr11:108436600-108441600	Weak transcription	Stomach Mucosa	stomach
21	chr11:108437000-108439000	Active TSS	Liver	Liver
22	chr11:108437600-108440200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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