Variant report

Variant	rs7104503
Chromosome Location	chr11:108405143-108405144
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108403307..108405795-chr11:108408809..108410454,2	MCF-7	breast:
2	chr11:108399695..108402606-chr11:108404147..108406671,2	K562	blood:

Variant related genes	Relation type
ENSG00000110723	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10749920	0.92[CEU][hapmap];0.92[CHB][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10789666	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10890851	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890852	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10890853	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10890855	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890858	0.91[CEU][hapmap]
rs10890859	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11212682	0.92[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11212689	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11212691	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11212695	0.82[ASN][1000 genomes]
rs11212700	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212704	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11824250	0.92[CEU][hapmap];0.93[CHB][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12362341	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17092330	0.91[CEU][hapmap]
rs1940219	0.91[CEU][hapmap]
rs2016291	0.87[EUR][1000 genomes]
rs2846407	0.83[CEU][hapmap]
rs2846412	0.82[YRI][hapmap]
rs3741060	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap]
rs3900699	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4442514	0.91[CEU][hapmap]
rs4533001	0.91[CEU][hapmap]
rs4643041	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4753844	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4754325	0.81[ASN][1000 genomes]
rs4754326	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7118229	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7104503	KDELC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108370400-108408800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:108371800-108406400	Weak transcription	Gastric	stomach
3	chr11:108381000-108408800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:108385000-108409000	Weak transcription	Fetal Kidney	kidney
5	chr11:108385000-108414000	Weak transcription	HSMM	muscle
6	chr11:108385000-108422800	Weak transcription	Fetal Intestine Small	intestine
7	chr11:108385400-108409200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:108385600-108405200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:108385600-108408400	Weak transcription	Aorta	Aorta
10	chr11:108385600-108408800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:108385600-108409400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:108385600-108412400	Weak transcription	HSMMtube	muscle
13	chr11:108396200-108408800	Strong transcription	Placenta	Placenta
14	chr11:108396200-108408800	Weak transcription	Pancreas	Pancrea
15	chr11:108396400-108409000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:108398800-108406200	Weak transcription	K562	blood
17	chr11:108398800-108407600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:108399200-108408800	Weak transcription	Liver	Liver
19	chr11:108400200-108409000	Weak transcription	Fetal Stomach	stomach
20	chr11:108401000-108406600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:108401000-108407200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:108401400-108409600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:108401600-108408800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:108401600-108420800	Weak transcription	Lung	lung
25	chr11:108401800-108407000	Weak transcription	Esophagus	oesophagus
26	chr11:108401800-108408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:108403400-108405600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:108403800-108408800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:108404000-108405400	Weak transcription	NHEK	skin
30	chr11:108405000-108405600	Strong transcription	HMEC	breast
31	chr11:108405000-108405800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr11:108405000-108408000	Strong transcription	Rectal Mucosa Donor 31	rectum

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