Variant report

Variant	rs2273816
Chromosome Location	chr13:50294056-50294057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11616762	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11617604	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2104182	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2407796	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3720	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809326	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809327	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3825408	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55653036	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56165951	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56228130	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56286086	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57588785	0.92[EUR][1000 genomes]
rs7318637	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73192674	0.91[ASN][1000 genomes]
rs73192699	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73194405	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73194411	0.83[EUR][1000 genomes]
rs9526590	0.97[ASN][1000 genomes]
rs9535319	0.92[JPT][hapmap]
rs9591291	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9596167	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9596168	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9596169	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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
rs2273816	EBPL	cis	cerebellum	SCAN
rs2273816	EBPL	cis	Whole Blood	GTEx
rs2273816	EBPL	cis	lymphoblastoid	seeQTL
rs2273816	EBPL	cis	parietal	SCAN
rs2273816	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs2273816	KPNA3	Cis_1M	lymphoblastoid	RTeQTL
rs2273816	EBPL	cis	multi-tissue	Pritchard

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	chr13:50266400-50295800	Weak transcription	Small Intestine	intestine
8	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
9	chr13:50272400-50295000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:50272400-50296000	Weak transcription	Fetal Heart	heart
11	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
12	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:50276000-50299800	Weak transcription	Right Ventricle	heart
14	chr13:50276000-50307600	Weak transcription	Pancreas	Pancrea
15	chr13:50277000-50318400	Weak transcription	Hela-S3	cervix
16	chr13:50280000-50308000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr13:50280200-50295200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr13:50280600-50295800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr13:50280600-50296000	Weak transcription	Colon Smooth Muscle	Colon
20	chr13:50283000-50296000	Weak transcription	HSMMtube	muscle
21	chr13:50283400-50294600	Weak transcription	Lung	lung
22	chr13:50285200-50295200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr13:50289600-50294800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr13:50289600-50296800	Strong transcription	Fetal Thymus	thymus
25	chr13:50289800-50294800	Strong transcription	Brain Anterior Caudate	brain
26	chr13:50289800-50296000	Weak transcription	GM12878-XiMat	blood
27	chr13:50289800-50296600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:50290000-50294200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:50290000-50294400	Strong transcription	NHDF-Ad	bronchial
30	chr13:50290000-50294800	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr13:50290000-50295000	Strong transcription	HUVEC	blood vessel
32	chr13:50290000-50295000	Strong transcription	NH-A	brain
33	chr13:50290000-50295400	Weak transcription	Brain Hippocampus Middle	brain
34	chr13:50290000-50295800	Weak transcription	NHLF	lung
35	chr13:50290000-50296000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr13:50290000-50296000	Weak transcription	HepG2	liver
37	chr13:50290000-50296600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr13:50290000-50297000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:50290000-50297000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:50290000-50297000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr13:50290000-50298800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr13:50290000-50299400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr13:50290000-50304600	Strong transcription	Liver	Liver
44	chr13:50290000-50306200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:50290000-50306800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:50290000-50324000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr13:50290000-50334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr13:50290200-50295800	Weak transcription	NHEK	skin
49	chr13:50290200-50297000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr13:50290200-50297200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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