Variant report

Variant	rs11130182
Chromosome Location	chr3:49206767-49206768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49165567..49167426-chr3:49206030..49208250,2	K562	blood:
2	chr3:49204930..49207200-chr3:49449603..49451351,2	K562	blood:

Variant related genes	Relation type
ENSG00000172037	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000067560	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10154895	0.88[ASN][1000 genomes]
rs10865954	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130184	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11706189	0.88[ASN][1000 genomes]
rs11713297	0.88[ASN][1000 genomes]
rs11715581	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11716334	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11717524	0.81[AMR][1000 genomes]
rs11920267	0.81[AMR][1000 genomes]
rs12487580	0.88[ASN][1000 genomes]
rs12490393	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12493001	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12629759	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12636030	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12637576	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13064784	0.83[ASN][1000 genomes]
rs13096406	0.80[ASN][1000 genomes]
rs2117938	0.82[EUR][1000 genomes]
rs2334958	0.82[EUR][1000 genomes]
rs3212	0.83[ASN][1000 genomes]
rs4279134	0.83[ASN][1000 genomes]
rs4308307	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4367098	0.83[EUR][1000 genomes]
rs4499638	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4513485	0.83[ASN][1000 genomes]
rs4521268	0.83[ASN][1000 genomes]
rs4536858	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4955410	0.93[ASN][1000 genomes]
rs4955418	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4955419	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4955420	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4955432	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55713230	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61583136	0.93[ASN][1000 genomes]
rs62262517	0.81[ASN][1000 genomes]
rs66991555	0.88[ASN][1000 genomes]
rs6770112	0.93[ASN][1000 genomes]
rs6784111	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6790914	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6794924	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6795756	0.82[EUR][1000 genomes]
rs7615235	0.81[ASN][1000 genomes]
rs7626445	0.83[ASN][1000 genomes]
rs7652746	0.82[EUR][1000 genomes]
rs9814987	0.93[ASN][1000 genomes]
rs9835439	0.83[ASN][1000 genomes]
rs9837237	0.85[ASN][1000 genomes]
rs9837625	0.85[ASN][1000 genomes]
rs9840050	0.83[ASN][1000 genomes]
rs9855123	0.83[ASN][1000 genomes]
rs9862483	0.88[ASN][1000 genomes]
rs9880088	0.88[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	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases
2	nsv834686	chr3:49106047-49270556	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs11130182	CCDC36	cis	Esophagus Muscularis	GTEx
rs11130182	WDR6	cis	Adipose Subcutaneous	GTEx
rs11130182	WDR6	cis	Whole Blood	GTEx
rs11130182	AMT	cis	Thyroid	GTEx
rs11130182	WDR6	cis	lung	GTEx
rs11130182	WDR6	cis	Muscle Skeletal	GTEx
rs11130182	WDR6	cis	Artery Tibial	GTEx
rs11130182	WDR6	cis	Nerve Tibial	GTEx
rs11130182	CCDC36	cis	Artery Tibial	GTEx
rs11130182	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs11130182	PH-4	Cis_1M	lymphoblastoid	RTeQTL
rs11130182	CCDC36	cis	lung	GTEx
rs11130182	WDR6	cis	Esophagus Mucosa	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49204200-49207400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:49204200-49208000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:49204200-49208000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:49204200-49208000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:49204200-49208200	Weak transcription	HMEC	breast
6	chr3:49204400-49207200	Weak transcription	K562	blood
7	chr3:49204400-49207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:49204400-49207400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:49204400-49207600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:49204400-49207600	Weak transcription	Fetal Kidney	kidney
11	chr3:49204400-49207800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:49204400-49207800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:49204400-49207800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:49204400-49207800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:49204400-49207800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:49204400-49207800	Weak transcription	Fetal Lung	lung
17	chr3:49204400-49207800	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:49204400-49207800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:49204400-49208000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:49204400-49208000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:49204400-49208000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:49204400-49208000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:49204400-49208000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:49204400-49208000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:49204400-49208000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:49204400-49208000	Weak transcription	Adipose Nuclei	Adipose
27	chr3:49204400-49208000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:49204400-49208000	Weak transcription	NHDF-Ad	bronchial
29	chr3:49204400-49208000	Weak transcription	NHLF	lung
30	chr3:49204400-49208000	Weak transcription	Osteobl	bone
31	chr3:49204400-49208200	Weak transcription	Primary T cells from cord blood	blood
32	chr3:49204400-49208200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:49204400-49208200	Weak transcription	Right Ventricle	heart
34	chr3:49204400-49208200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:49204400-49208200	Weak transcription	Small Intestine	intestine
36	chr3:49204400-49208200	Weak transcription	A549	lung
37	chr3:49204400-49208200	Weak transcription	HSMM	muscle
38	chr3:49204400-49208200	Weak transcription	HSMMtube	muscle
39	chr3:49204400-49208200	Weak transcription	NH-A	brain
40	chr3:49204400-49208200	Weak transcription	NHEK	skin
41	chr3:49204400-49208400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:49204400-49208400	Weak transcription	Left Ventricle	heart
43	chr3:49204400-49208400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr3:49204400-49208600	Weak transcription	Right Atrium	heart
45	chr3:49204600-49207600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr3:49204600-49207600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:49204600-49207600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:49204600-49207600	Weak transcription	Spleen	Spleen
49	chr3:49204600-49207800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:49204600-49207800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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