Variant report

Variant	rs11212592
Chromosome Location	chr11:108218847-108218848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11212621	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs12226046	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs170548	0.86[JPT][hapmap]
rs179110	0.86[JPT][hapmap]
rs227060	0.86[JPT][hapmap]
rs373759	0.86[JPT][hapmap]
rs597788	0.86[JPT][hapmap]
rs611646	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv1821877	chr11:108158134-108219339	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
rs11212592	KDELC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:108148200-108225600	Weak transcription	Esophagus	oesophagus
4	chr11:108148600-108225600	Weak transcription	Gastric	stomach
5	chr11:108176400-108225400	Weak transcription	Right Ventricle	heart
6	chr11:108182400-108220800	Weak transcription	Aorta	Aorta
7	chr11:108182400-108222200	Weak transcription	Pancreas	Pancrea
8	chr11:108182400-108223800	Weak transcription	Small Intestine	intestine
9	chr11:108192000-108222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:108192200-108225400	Weak transcription	Brain Angular Gyrus	brain
11	chr11:108193800-108224600	Weak transcription	Fetal Heart	heart
12	chr11:108195400-108226200	Strong transcription	Primary T cells from cord blood	blood
13	chr11:108200400-108224600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:108200600-108222000	Weak transcription	Spleen	Spleen
15	chr11:108200600-108222200	Weak transcription	Fetal Intestine Small	intestine
16	chr11:108201400-108219600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:108201400-108221200	Weak transcription	Fetal Brain Male	brain
18	chr11:108202200-108225200	Weak transcription	Colonic Mucosa	Colon
19	chr11:108202800-108221200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:108203000-108222000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:108203200-108224400	Weak transcription	Psoas Muscle	Psoas
22	chr11:108207000-108220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:108207000-108221800	Weak transcription	Lung	lung
24	chr11:108207000-108224400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:108207000-108225400	Weak transcription	Fetal Kidney	kidney
26	chr11:108207400-108224400	Weak transcription	Fetal Brain Female	brain
27	chr11:108207400-108234000	Weak transcription	NHLF	lung
28	chr11:108207600-108219600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:108207600-108222000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:108207600-108222200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:108207600-108222200	Weak transcription	NH-A	brain
32	chr11:108207600-108222400	Weak transcription	Brain Substantia Nigra	brain
33	chr11:108207800-108219600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:108207800-108219800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:108207800-108220800	Weak transcription	NHDF-Ad	bronchial
36	chr11:108207800-108224400	Weak transcription	HSMMtube	muscle
37	chr11:108208000-108220800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:108208000-108224400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:108208000-108224800	Weak transcription	HUVEC	blood vessel
40	chr11:108208200-108225000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:108208400-108219400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:108208400-108219600	Weak transcription	A549	lung
43	chr11:108208400-108221400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:108208400-108222000	Weak transcription	Brain Germinal Matrix	brain
45	chr11:108208800-108219600	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:108209000-108219800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:108209400-108219600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:108209400-108220600	Weak transcription	Placenta	Placenta
49	chr11:108209400-108222000	Weak transcription	Fetal Stomach	stomach
50	chr11:108209400-108225600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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