Variant report

Variant	rs11212691
Chromosome Location	chr11:108391085-108391086
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	chr11:108367494..108369928-chr11:108388212..108391402,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178202	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10749920	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10789666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10890851	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890852	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10890853	0.81[EUR][1000 genomes]
rs10890855	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10890859	0.86[EUR][1000 genomes]
rs11212682	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11212689	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212695	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11212700	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11212704	0.85[EUR][1000 genomes]
rs11824250	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12362341	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2016291	0.91[EUR][1000 genomes]
rs2846412	0.82[AFR][1000 genomes]
rs3741060	0.80[ASN][1000 genomes]
rs3900699	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4643041	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4753844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4754325	0.82[ASN][1000 genomes]
rs4754326	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7104503	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7118229	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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
rs11212691	KDELC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 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	chr11:108372000-108401200	Weak transcription	Esophagus	oesophagus
4	chr11:108381000-108408800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:108382000-108396000	Weak transcription	Pancreas	Pancrea
6	chr11:108383000-108398400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:108384800-108393000	Weak transcription	GM12878-XiMat	blood
8	chr11:108385000-108409000	Weak transcription	Fetal Kidney	kidney
9	chr11:108385000-108414000	Weak transcription	HSMM	muscle
10	chr11:108385000-108422800	Weak transcription	Fetal Intestine Small	intestine
11	chr11:108385200-108396200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:108385200-108403600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:108385400-108391800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:108385400-108394800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:108385400-108395600	Weak transcription	Lung	lung
16	chr11:108385400-108409200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:108385600-108392000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:108385600-108396000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:108385600-108396400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:108385600-108397000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:108385600-108397000	Weak transcription	K562	blood
22	chr11:108385600-108402600	Weak transcription	Brain Anterior Caudate	brain
23	chr11:108385600-108405000	Weak transcription	HMEC	breast
24	chr11:108385600-108405200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:108385600-108408400	Weak transcription	Aorta	Aorta
26	chr11:108385600-108408800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:108385600-108409400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:108385600-108412400	Weak transcription	HSMMtube	muscle
29	chr11:108387600-108394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:108389200-108394800	Weak transcription	NHEK	skin
31	chr11:108389600-108397200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:108390400-108397000	Weak transcription	Liver	Liver
33	chr11:108391000-108391200	Enhancers	Placenta	Placenta
34	chr11:108391000-108392600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:108391000-108395600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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