Variant report

Variant	rs9526450
Chromosome Location	chr13:48698793-48698794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1104351	1.00[JPT][hapmap]
rs12874522	1.00[JPT][hapmap]
rs1326137	1.00[JPT][hapmap]
rs1410116	0.96[GIH][hapmap]
rs1886977	1.00[JPT][hapmap]
rs1998989	1.00[ASN][1000 genomes]
rs2094190	1.00[JPT][hapmap]
rs2094196	1.00[JPT][hapmap]
rs2148939	1.00[ASN][1000 genomes]
rs2182375	0.91[MEX][hapmap]
rs2182785	1.00[ASN][1000 genomes]
rs2406694	1.00[JPT][hapmap]
rs4941618	1.00[JPT][hapmap];0.81[MEX][hapmap]
rs4941624	1.00[JPT][hapmap]
rs4942720	1.00[JPT][hapmap]
rs4942721	1.00[JPT][hapmap]
rs6561414	1.00[JPT][hapmap]
rs6561438	0.93[ASN][1000 genomes]
rs7317685	1.00[ASN][1000 genomes]
rs7323702	1.00[JPT][hapmap];0.91[MEX][hapmap]
rs7323821	1.00[JPT][hapmap]
rs7325175	1.00[JPT][hapmap]
rs7329137	1.00[JPT][hapmap]
rs7329266	1.00[JPT][hapmap]
rs7329615	1.00[JPT][hapmap]
rs7332363	1.00[JPT][hapmap];0.91[MEX][hapmap]
rs7332994	1.00[JPT][hapmap];0.91[MEX][hapmap]
rs7335797	1.00[JPT][hapmap];0.81[MEX][hapmap]
rs73481288	0.96[ASN][1000 genomes]
rs73483108	0.96[ASN][1000 genomes]
rs73483122	0.96[ASN][1000 genomes]
rs7990099	1.00[JPT][hapmap];0.91[MEX][hapmap]
rs7991892	1.00[JPT][hapmap];0.81[MEX][hapmap]
rs7996051	1.00[JPT][hapmap]
rs7996581	1.00[JPT][hapmap];0.91[MEX][hapmap]
rs7999270	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8001032	1.00[JPT][hapmap]
rs8002322	0.81[MEX][hapmap]
rs8002482	1.00[JPT][hapmap]
rs840429	1.00[JPT][hapmap]
rs840432	1.00[JPT][hapmap]
rs840439	1.00[JPT][hapmap]
rs943067	1.00[JPT][hapmap]
rs9526419	1.00[JPT][hapmap]
rs9526454	1.00[ASN][1000 genomes]
rs9526455	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[ASN][1000 genomes]
rs9534884	1.00[JPT][hapmap]
rs9534934	1.00[JPT][hapmap]
rs9534959	1.00[ASN][1000 genomes]
rs9534966	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[ASN][1000 genomes]
rs9567988	1.00[JPT][hapmap]

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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9526450	MED4	Cis_1M	lymphoblastoid	RTeQTL
rs9526450	MED4	cis	normal skin	skin_eQTL
rs9526450	MED4	cis	cerebellum	SCAN
rs9526450	SUCLA2	cis	parietal	SCAN
rs9526450	MED4	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48686600-48700000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:48695800-48699600	Weak transcription	HUVEC	blood vessel
3	chr13:48695800-48700000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:48695800-48701200	Weak transcription	Fetal Intestine Small	intestine
5	chr13:48696000-48699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:48696200-48699800	Weak transcription	Fetal Kidney	kidney
7	chr13:48696200-48701200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:48696200-48701200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr13:48696400-48699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:48696400-48699800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:48697400-48701400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:48697600-48698800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:48697600-48698800	Enhancers	NHEK	skin
14	chr13:48697800-48699000	Enhancers	Colon Smooth Muscle	Colon
15	chr13:48697800-48699200	Enhancers	Stomach Smooth Muscle	stomach
16	chr13:48697800-48699800	Enhancers	HepG2	liver
17	chr13:48697800-48702200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:48698000-48698800	Enhancers	Gastric	stomach
19	chr13:48698000-48698800	Enhancers	Ovary	ovary
20	chr13:48698000-48698800	Enhancers	Right Ventricle	heart
21	chr13:48698000-48698800	Enhancers	Stomach Mucosa	stomach
22	chr13:48698000-48699000	Enhancers	Esophagus	oesophagus
23	chr13:48698000-48699200	Enhancers	Right Atrium	heart
24	chr13:48698000-48700000	Enhancers	Lung	lung
25	chr13:48698000-48700600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr13:48698000-48700800	Enhancers	Left Ventricle	heart
27	chr13:48698200-48699600	Weak transcription	Aorta	Aorta
28	chr13:48698400-48698800	Enhancers	Brain Hippocampus Middle	brain
29	chr13:48698400-48698800	Enhancers	Fetal Lung	lung
30	chr13:48698400-48698800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr13:48698400-48699000	Enhancers	Spleen	Spleen
32	chr13:48698400-48699800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr13:48698400-48700000	Enhancers	Adipose Nuclei	Adipose
34	chr13:48698400-48700000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr13:48698600-48699600	Weak transcription	Fetal Stomach	stomach
36	chr13:48698600-48699600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr13:48698600-48699600	Weak transcription	HSMMtube	muscle
38	chr13:48698600-48699800	Weak transcription	Fetal Muscle Leg	muscle
39	chr13:48698600-48700000	Weak transcription	HMEC	breast
40	chr13:48698600-48701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:48698600-48701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:48698600-48701400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr13:48698600-48701400	Weak transcription	Small Intestine	intestine

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