Variant report

Variant	rs2018218
Chromosome Location	chr11:17390855-17390856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17386801..17391541-chr11:17392806..17398479,7	K562	blood:
2	chr11:17372004..17376706-chr11:17389916..17393602,5	K562	blood:
3	chr11:17373389..17376552-chr11:17389035..17393180,4	K562	blood:
4	chr11:17389738..17391541-chr11:17394315..17396637,3	K562	blood:

Variant related genes	Relation type
ENSG00000188211	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10430892	0.91[CHB][hapmap]
rs10466382	0.86[CHB][hapmap]
rs10734253	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10766383	0.82[CHB][hapmap]
rs10766385	0.86[CHB][hapmap]
rs10766389	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10766390	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10766391	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10832757	0.86[CHB][hapmap]
rs10832763	0.86[CHB][hapmap]
rs10832765	0.86[CHB][hapmap]
rs10832768	0.86[CHB][hapmap]
rs10832769	0.86[CHB][hapmap]
rs10832770	0.86[CHB][hapmap]
rs10832772	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10832774	0.82[ASN][1000 genomes]
rs10832775	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10832777	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832779	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10832781	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10832782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832785	0.82[ASW][hapmap]
rs11024246	0.82[CHB][hapmap]
rs11024251	0.86[CHB][hapmap]
rs11024262	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11024263	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11024272	1.00[ASW][hapmap];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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12791318	0.86[LWK][hapmap];0.96[YRI][hapmap]
rs16933984	0.87[LWK][hapmap];0.92[YRI][hapmap]
rs2079042	0.95[ASN][1000 genomes]
rs2354867	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs34327804	0.94[ASN][1000 genomes]
rs4451707	0.87[YRI][hapmap]
rs4756887	1.00[ASW][hapmap];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];0.97[MKK][hapmap];1.00[TSI][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]
rs5218	0.83[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap]
rs7110037	0.86[LWK][hapmap];0.92[YRI][hapmap]
rs7121987	0.89[YRI][hapmap]
rs7937091	0.96[YRI][hapmap]
rs7950330	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2018218	KCNJ11	cis	cerebellum	SCAN
rs2018218	ABCC8	cis	cerebellum	SCAN
rs2018218	ABCC8	cis	parietal	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17376000-17391000	Weak transcription	Right Ventricle	heart
2	chr11:17376600-17391400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:17382400-17401200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:17387200-17398600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:17387400-17391000	Strong transcription	Primary T cells from cord blood	blood
6	chr11:17387600-17393200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:17387800-17391200	Strong transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:17388000-17391200	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr11:17388200-17391600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:17388200-17395200	ZNF genes & repeats	Thymus	Thymus
11	chr11:17388200-17395800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:17388200-17396800	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr11:17388400-17391600	Strong transcription	Gastric	stomach
14	chr11:17388400-17391800	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:17388600-17391800	Strong transcription	Colon Smooth Muscle	Colon
16	chr11:17388600-17396000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr11:17388600-17396800	ZNF genes & repeats	Dnd41	blood
18	chr11:17388800-17392000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
19	chr11:17388800-17392400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:17388800-17394200	ZNF genes & repeats	HepG2	liver
21	chr11:17388800-17395200	ZNF genes & repeats	Spleen	Spleen
22	chr11:17388800-17395600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
23	chr11:17388800-17395800	ZNF genes & repeats	HSMM	muscle
24	chr11:17388800-17395800	ZNF genes & repeats	NHEK	skin
25	chr11:17388800-17396000	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr11:17389000-17392400	ZNF genes & repeats	Pancreas	Pancrea
27	chr11:17389000-17392600	Strong transcription	Brain Angular Gyrus	brain
28	chr11:17389000-17395800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr11:17389000-17398200	ZNF genes & repeats	Ovary	ovary
30	chr11:17389200-17391200	Weak transcription	Psoas Muscle	Psoas
31	chr11:17389400-17391200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:17389400-17391400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:17389400-17391400	Strong transcription	Hela-S3	cervix
34	chr11:17389600-17392400	ZNF genes & repeats	Esophagus	oesophagus
35	chr11:17389600-17392400	ZNF genes & repeats	Lung	lung
36	chr11:17389600-17392600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:17389600-17395200	ZNF genes & repeats	Colonic Mucosa	Colon
38	chr11:17389600-17395400	ZNF genes & repeats	HSMMtube	muscle
39	chr11:17389600-17395800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr11:17389600-17396000	ZNF genes & repeats	Fetal Brain Female	brain
41	chr11:17389800-17391000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:17389800-17392200	ZNF genes & repeats	Fetal Thymus	thymus
43	chr11:17389800-17394200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
44	chr11:17389800-17394800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:17389800-17394800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr11:17389800-17395000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:17389800-17395200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:17389800-17395200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:17389800-17395200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
50	chr11:17389800-17395600	ZNF genes & repeats	Aorta	Aorta

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