Variant report

Variant	rs751343
Chromosome Location	chr11:108366449-108366450
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:108366167..108368903-chr11:108443011..108444966,2	K562	blood:
2	chr11:108366379..108367925-chr11:108380828..108383134,2	K562	blood:
3	chr11:108365318..108368296-chr11:108415682..108417854,2	K562	blood:
4	chr11:108332946..108340923-chr11:108359972..108371658,26	K562	blood:
5	chr11:108365650..108370333-chr11:108462736..108466617,7	K562	blood:
6	chr11:108361395..108363864-chr11:108365519..108367503,4	MCF-7	breast:
7	chr11:108333493..108335772-chr11:108366230..108368651,2	MCF-7	breast:
8	chr11:108333954..108342521-chr11:108361561..108373383,35	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166323	Chromatin interaction
ENSG00000110723	Chromatin interaction
ENSG00000178202	Chromatin interaction
ENSG00000221607	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10431061	0.85[EUR][1000 genomes]
rs10749917	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10749918	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10789665	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10890848	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10890849	0.94[ASN][1000 genomes]
rs11212636	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11212637	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11212638	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11212659	0.87[ASN][1000 genomes]
rs11212661	0.88[ASN][1000 genomes]
rs11212666	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11212676	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12223381	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12419828	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12801988	0.91[ASN][1000 genomes]
rs2118308	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2118309	0.88[ASN][1000 genomes]
rs3765632	0.89[ASN][1000 genomes]
rs3824987	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3901851	0.88[ASN][1000 genomes]
rs4753842	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4754322	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60639858	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61913892	0.87[ASN][1000 genomes]
rs6589018	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7111091	0.88[EUR][1000 genomes]
rs7126588	0.87[ASN][1000 genomes]
rs7934719	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7943063	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7943203	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs893279	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs751343	KDELC2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108338200-108367600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108338600-108367200	Weak transcription	A549	lung
3	chr11:108338600-108367800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:108338800-108367200	Weak transcription	HSMMtube	muscle
5	chr11:108338800-108367400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:108338800-108367400	Weak transcription	HUVEC	blood vessel
7	chr11:108338800-108367600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:108338800-108367600	Weak transcription	Small Intestine	intestine
9	chr11:108338800-108368000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:108339000-108367200	Weak transcription	NHEK	skin
11	chr11:108339000-108367400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:108339000-108368000	Weak transcription	Primary B cells from cord blood	blood
13	chr11:108339000-108368000	Weak transcription	Fetal Brain Female	brain
14	chr11:108339200-108367400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:108339200-108367600	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:108339200-108367800	Weak transcription	Fetal Brain Male	brain
17	chr11:108339200-108368000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:108346000-108367200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:108346000-108367600	Weak transcription	Brain Substantia Nigra	brain
20	chr11:108348400-108367400	Weak transcription	Colonic Mucosa	Colon
21	chr11:108348400-108367600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:108348600-108367200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:108348600-108367200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:108348600-108367400	Weak transcription	Esophagus	oesophagus
25	chr11:108348600-108367600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:108348800-108367600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr11:108349200-108367200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:108350000-108367400	Weak transcription	Hela-S3	cervix
29	chr11:108350200-108367400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:108350200-108367400	Weak transcription	Fetal Kidney	kidney
31	chr11:108350400-108367400	Weak transcription	Brain Anterior Caudate	brain
32	chr11:108353000-108367800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:108353400-108367400	Weak transcription	Spleen	Spleen
34	chr11:108353800-108367400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:108354400-108367600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:108355400-108367400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:108356000-108367200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:108356000-108367200	Weak transcription	HepG2	liver
39	chr11:108356200-108367600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:108356200-108368000	Weak transcription	Psoas Muscle	Psoas
41	chr11:108357200-108367200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:108357200-108367200	Weak transcription	NH-A	brain
43	chr11:108357200-108367600	Weak transcription	Brain Germinal Matrix	brain
44	chr11:108357200-108367600	Weak transcription	HSMM	muscle
45	chr11:108357400-108367400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:108357400-108368000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:108357600-108366800	Weak transcription	Osteobl	bone
48	chr11:108357600-108367600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:108357800-108367200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:108357800-108367400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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