Variant report

Variant	rs10437594
Chromosome Location	chr11:8629424-8629425
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8624366..8626614-chr11:8629060..8630632,2	K562	blood:
2	chr11:8626986..8629942-chr11:8631713..8635066,3	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10437663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743077	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769909	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769913	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840048	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840049	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840054	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840068	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840071	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840073	0.96[ASN][1000 genomes]
rs10840074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840075	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840076	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840078	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840082	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840086	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11041921	1.00[CEU][hapmap]
rs11041922	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11041923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11041928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11041936	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11041937	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11041938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11041942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11041945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs11041946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11041948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11041956	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11041957	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11041959	0.96[ASN][1000 genomes]
rs11041961	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11041983	1.00[CEU][hapmap]
rs11041984	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11041987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11041988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11041989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11041992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11042001	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042005	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042009	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042010	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11512437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11517716	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12276661	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12281197	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12281285	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs12282087	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12282398	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12283443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12289533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12292871	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap]
rs12361165	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12362755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12364516	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12364713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12365973	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12418359	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12418525	0.96[ASN][1000 genomes]
rs12419725	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12422205	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12573963	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12575045	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1867812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2100066	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34381273	0.90[ASN][1000 genomes]
rs4450173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4627069	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58364522	0.96[ASN][1000 genomes]
rs59084068	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7102605	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7108120	0.87[ASN][1000 genomes]
rs7108379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7127840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs726008	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73403636	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73408023	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73408025	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7929546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7941120	0.85[ASN][1000 genomes]
rs9737172	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751035	chr11:8431654-8685451	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv896983	chr11:8526643-8682465	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10437594	PRG4	trans	brain	seeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8623400-8634200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:8623600-8632000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:8626000-8629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:8626000-8637000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:8626000-8637200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:8626000-8661600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:8626000-8661800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:8626200-8637200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:8626200-8653000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:8626400-8630000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:8626400-8630000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:8626400-8634000	Weak transcription	Placenta	Placenta
13	chr11:8626400-8634200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:8626400-8636000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:8626400-8636200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:8626400-8636800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:8626400-8637200	Weak transcription	Pancreas	Pancrea
18	chr11:8626400-8637400	Weak transcription	Adipose Nuclei	Adipose
19	chr11:8626400-8638400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:8626400-8638400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:8626400-8643400	Weak transcription	Fetal Lung	lung
22	chr11:8626600-8630000	Weak transcription	NH-A	brain
23	chr11:8626600-8637200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:8626600-8639600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:8626600-8648800	Weak transcription	Stomach Mucosa	stomach
26	chr11:8626800-8629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:8626800-8630000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:8626800-8630000	Weak transcription	NHDF-Ad	bronchial
29	chr11:8626800-8630000	Weak transcription	NHLF	lung
30	chr11:8626800-8630000	Weak transcription	Osteobl	bone
31	chr11:8626800-8637000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:8626800-8637200	Weak transcription	Esophagus	oesophagus
33	chr11:8626800-8659600	Weak transcription	Hela-S3	cervix
34	chr11:8627400-8630000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:8627600-8637200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:8627800-8630000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:8627800-8637000	Weak transcription	HMEC	breast
38	chr11:8627800-8637200	Weak transcription	NHEK	skin
39	chr11:8627800-8642400	Weak transcription	A549	lung
40	chr11:8628000-8629600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:8628000-8635400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:8628000-8637000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:8628400-8630400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:8628400-8634200	Weak transcription	HSMM	muscle
45	chr11:8628600-8630200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr11:8628800-8630000	Weak transcription	HSMMtube	muscle
47	chr11:8628800-8637200	Weak transcription	Primary T cells from cord blood	blood
48	chr11:8629200-8638000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:8629400-8635200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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