Variant report

Variant	rs9535308
Chromosome Location	chr13:50291860-50291861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12585586	0.98[ASN][1000 genomes]
rs2146437	0.81[EUR][1000 genomes]
rs2897771	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3782930	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3809325	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6561557	0.82[YRI][hapmap]
rs6561563	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7338721	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7982132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983905	0.88[ASN][1000 genomes]
rs7983918	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9526596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9526599	0.91[YRI][hapmap]
rs9535303	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9535304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535319	0.84[CHB][hapmap];0.85[JPT][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535321	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535328	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535334	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9535335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9535343	0.86[JPT][hapmap]
rs9562919	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9568312	0.83[AFR][1000 genomes]
rs9568313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs9568317	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9568330	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9596183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596186	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9596187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[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	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9535308	EBPL	cis	Artery Tibial	GTEx
rs9535308	EBPL	cis	Adipose Subcutaneous	GTEx
rs9535308	EBPL	cis	multi-tissue	Pritchard
rs9535308	EBPL	cis	lung	GTEx
rs9535308	EBPL	cis	Esophagus Muscularis	GTEx
rs9535308	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs9535308	KPNA3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266200-50295200	Weak transcription	Spleen	Spleen
2	chr13:50266200-50296000	Weak transcription	K562	blood
3	chr13:50266200-50298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:50266200-50298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:50266200-50307800	Weak transcription	Gastric	stomach
6	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:50266400-50293600	Weak transcription	Colonic Mucosa	Colon
8	chr13:50266400-50295800	Weak transcription	Small Intestine	intestine
9	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
10	chr13:50272400-50295000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:50272400-50296000	Weak transcription	Fetal Heart	heart
12	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
13	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:50276000-50299800	Weak transcription	Right Ventricle	heart
15	chr13:50276000-50307600	Weak transcription	Pancreas	Pancrea
16	chr13:50277000-50318400	Weak transcription	Hela-S3	cervix
17	chr13:50280000-50308000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:50280200-50295200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr13:50280600-50295800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr13:50280600-50296000	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:50283000-50296000	Weak transcription	HSMMtube	muscle
22	chr13:50283400-50294600	Weak transcription	Lung	lung
23	chr13:50284000-50293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr13:50284600-50292000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr13:50285200-50295200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr13:50287800-50293000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:50289400-50292200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:50289600-50292600	Strong transcription	A549	lung
29	chr13:50289600-50294000	Strong transcription	Fetal Lung	lung
30	chr13:50289600-50294800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr13:50289600-50296800	Strong transcription	Fetal Thymus	thymus
32	chr13:50289800-50292800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr13:50289800-50294800	Strong transcription	Brain Anterior Caudate	brain
34	chr13:50289800-50296000	Weak transcription	GM12878-XiMat	blood
35	chr13:50289800-50296600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr13:50290000-50292000	Weak transcription	Fetal Kidney	kidney
37	chr13:50290000-50293000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr13:50290000-50294000	Strong transcription	Primary B cells from cord blood	blood
39	chr13:50290000-50294200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:50290000-50294400	Strong transcription	NHDF-Ad	bronchial
41	chr13:50290000-50294800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr13:50290000-50295000	Strong transcription	HUVEC	blood vessel
43	chr13:50290000-50295000	Strong transcription	NH-A	brain
44	chr13:50290000-50295400	Weak transcription	Brain Hippocampus Middle	brain
45	chr13:50290000-50295800	Weak transcription	NHLF	lung
46	chr13:50290000-50296000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr13:50290000-50296000	Weak transcription	HepG2	liver
48	chr13:50290000-50296600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr13:50290000-50297000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:50290000-50297000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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