Variant report

Variant	rs12791318
Chromosome Location	chr11:17393644-17393645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17392803..17397590-chr11:17399104..17403536,6	K562	blood:
2	chr11:17392236..17395328-chr11:17396635..17401653,4	K562	blood:
3	chr11:17386801..17391541-chr11:17392806..17398479,7	K562	blood:

Variant related genes	Relation type
ENSG00000260196	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10832782	0.96[YRI][hapmap]
rs11024272	0.86[LWK][hapmap];0.96[YRI][hapmap]
rs11604345	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2018218	0.86[LWK][hapmap];0.96[YRI][hapmap]
rs2214286	0.82[ASN][1000 genomes]
rs2355016	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34000454	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34258625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34980243	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35246340	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4148644	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4433545	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4451707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4756887	0.86[LWK][hapmap];0.96[YRI][hapmap]
rs4757509	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4757512	0.80[ASW][hapmap]
rs59134929	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6486363	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7110037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7121987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7395803	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7937091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12791318	ABCC8	cis	parietal	SCAN
rs12791318	RNU14	cis	multi-tissue	Pritchard
rs12791318	KCNJ11	cis	Esophagus Muscularis	GTEx
rs12791318	ABCC8	cis	cerebellum	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17382400-17401200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:17387200-17398600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:17388200-17395200	ZNF genes & repeats	Thymus	Thymus
4	chr11:17388200-17395800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:17388200-17396800	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr11:17388600-17396000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr11:17388600-17396800	ZNF genes & repeats	Dnd41	blood
8	chr11:17388800-17394200	ZNF genes & repeats	HepG2	liver
9	chr11:17388800-17395200	ZNF genes & repeats	Spleen	Spleen
10	chr11:17388800-17395600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
11	chr11:17388800-17395800	ZNF genes & repeats	HSMM	muscle
12	chr11:17388800-17395800	ZNF genes & repeats	NHEK	skin
13	chr11:17388800-17396000	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr11:17389000-17395800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr11:17389000-17398200	ZNF genes & repeats	Ovary	ovary
16	chr11:17389600-17395200	ZNF genes & repeats	Colonic Mucosa	Colon
17	chr11:17389600-17395400	ZNF genes & repeats	HSMMtube	muscle
18	chr11:17389600-17395800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr11:17389600-17396000	ZNF genes & repeats	Fetal Brain Female	brain
20	chr11:17389800-17394200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
21	chr11:17389800-17394800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:17389800-17394800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr11:17389800-17395000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:17389800-17395200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:17389800-17395200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:17389800-17395200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
27	chr11:17389800-17395600	ZNF genes & repeats	Aorta	Aorta
28	chr11:17389800-17395800	ZNF genes & repeats	Brain Germinal Matrix	brain
29	chr11:17389800-17397000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:17390000-17394200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
31	chr11:17390000-17394600	ZNF genes & repeats	Brain Substantia Nigra	brain
32	chr11:17390000-17394600	ZNF genes & repeats	K562	blood
33	chr11:17390000-17395000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:17390000-17395000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:17390000-17395000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
36	chr11:17390000-17395200	ZNF genes & repeats	NHDF-Ad	bronchial
37	chr11:17390000-17395800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr11:17390000-17395800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr11:17390000-17395800	ZNF genes & repeats	Left Ventricle	heart
40	chr11:17390000-17397400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr11:17390200-17394600	ZNF genes & repeats	HMEC	breast
42	chr11:17390200-17394800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:17390200-17395000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:17390200-17395600	ZNF genes & repeats	Small Intestine	intestine
45	chr11:17390200-17395800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:17390400-17394400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr11:17390400-17394400	ZNF genes & repeats	NHLF	lung
48	chr11:17390400-17394600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
49	chr11:17390400-17395000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
50	chr11:17390400-17395200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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