Variant report

Variant	rs11236006
Chromosome Location	chr11:73831032-73831033
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73820071..73826543-chr11:73829167..73833958,6	K562	blood:
2	chr11:73829772..73832368-chr11:73832915..73835682,2	K562	blood:

Variant related genes	Relation type
ENSG00000168014	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11236004	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236024	0.88[YRI][hapmap]
rs11236028	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11825568	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11825974	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12146632	0.88[YRI][hapmap]
rs1291934	0.85[ASN][1000 genomes]
rs15763	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs1626521	0.93[JPT][hapmap]
rs1685354	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs1790400	0.90[ASN][1000 genomes]
rs1941820	0.81[CHB][hapmap]
rs2632723	0.93[JPT][hapmap]
rs2734827	0.93[JPT][hapmap]
rs2848557	1.00[CHD][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs3018185	0.82[ASN][1000 genomes]
rs4944880	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs530699	0.87[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs542628	0.81[CHB][hapmap]
rs544356	0.81[CHD][hapmap]
rs555964	0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs562488	0.81[CHB][hapmap]
rs58006161	0.86[ASN][1000 genomes]
rs60647229	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs668514	0.93[JPT][hapmap]
rs699142	0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7130254	0.88[YRI][hapmap]
rs72984831	0.83[ASN][1000 genomes]
rs72984885	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72984886	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7925988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs826054	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs826055	0.83[ASN][1000 genomes]
rs826057	0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap]
rs826058	0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap]
rs866650	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs869616	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11236006	MRPL48	cis	cerebellum	SCAN
rs11236006	PPME1	cis	cerebellum	SCAN
rs11236006	UCP2	cis	multi-tissue	Pritchard
rs11236006	C2CD3	cis	parietal	SCAN
rs11236006	PGM2L1	cis	parietal	SCAN
rs11236006	RSF1	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73781800-73849200	Weak transcription	Stomach Mucosa	stomach
2	chr11:73802000-73831800	Weak transcription	Pancreas	Pancrea
3	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
4	chr11:73802400-73832000	Weak transcription	Fetal Heart	heart
5	chr11:73804000-73832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
7	chr11:73809800-73844400	Weak transcription	HMEC	breast
8	chr11:73809800-73847200	Weak transcription	HepG2	liver
9	chr11:73812000-73849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:73814600-73845400	Weak transcription	Psoas Muscle	Psoas
11	chr11:73815400-73834200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:73816800-73840000	Weak transcription	Fetal Intestine Small	intestine
13	chr11:73816800-73845400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:73817200-73846800	Weak transcription	Spleen	Spleen
15	chr11:73817400-73845400	Weak transcription	NHDF-Ad	bronchial
16	chr11:73817400-73846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:73817600-73832600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:73817600-73842000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:73817600-73842000	Weak transcription	Gastric	stomach
20	chr11:73817600-73845800	Weak transcription	NHEK	skin
21	chr11:73817600-73849200	Weak transcription	NHLF	lung
22	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:73820400-73846400	Weak transcription	Osteobl	bone
24	chr11:73820600-73831600	Weak transcription	Brain Angular Gyrus	brain
25	chr11:73823600-73832200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:73824200-73833600	Strong transcription	Primary T cells from cord blood	blood
27	chr11:73824400-73833200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:73824400-73834600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:73824400-73841200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:73824400-73852400	Weak transcription	Colonic Mucosa	Colon
31	chr11:73824600-73840000	Weak transcription	Fetal Intestine Large	intestine
32	chr11:73824600-73846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:73825200-73841200	Weak transcription	Brain Germinal Matrix	brain
35	chr11:73825200-73843800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:73825400-73841000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:73825400-73844200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:73825600-73831800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:73825600-73831800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:73825600-73833000	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:73825600-73833200	Weak transcription	Liver	Liver
42	chr11:73825600-73833800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:73825600-73834000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:73825600-73841400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:73825600-73841600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:73825600-73842400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:73825600-73843000	Weak transcription	Adipose Nuclei	Adipose
48	chr11:73825600-73843400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:73825600-73843600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:73825600-73845400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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