Variant report

Variant	rs7982132
Chromosome Location	chr13:50300502-50300503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50283454..50285237-chr13:50298897..50300982,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 14 )

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

rs_ID	r²[population]
rs12585586	0.98[ASN][1000 genomes]
rs2146437	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2897771	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3782930	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3809325	0.91[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.90[MKK][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6561557	0.84[ASW][hapmap];0.84[YRI][hapmap]
rs6561563	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7338721	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7983905	0.88[ASN][1000 genomes]
rs7983918	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9526596	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs9526599	0.92[YRI][hapmap]
rs9535303	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9535304	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535308	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]
rs9535313	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535319	0.84[CHB][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535321	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535328	0.88[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];0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[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];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9535343	0.88[JPT][hapmap]
rs9562919	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[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]
rs9568312	0.82[AFR][1000 genomes]
rs9568313	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs9568317	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9568330	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9596183	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596186	0.89[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];0.89[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:14)

SNP	Gene	Cis/trans	Tissue	Source
rs7982132	LPAR6	cis	cerebellum	SCAN
rs7982132	EBPL	cis	lymphoblastoid	seeQTL
rs7982132	EBPL	cis	lung	GTEx
rs7982132	EBPL	cis	Lymphoblastoid	GTEx
rs7982132	EBPL	cis	Adipose Subcutaneous	GTEx
rs7982132	EBPL	cis	Artery Tibial	GTEx
rs7982132	EBPL	cis	Esophagus Muscularis	GTEx
rs7982132	EBPL	cis	parietal	SCAN
rs7982132	EBPL	cis	multi-tissue	Pritchard
rs7982132	EBPL	cis	Whole Blood	GTEx
rs7982132	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs7982132	KPNA3	Cis_1M	lymphoblastoid	RTeQTL
rs7982132	EBPL	cis	cerebellum	SCAN
rs7982132	KPNA3	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266200-50307800	Weak transcription	Gastric	stomach
2	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
4	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
5	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:50276000-50307600	Weak transcription	Pancreas	Pancrea
7	chr13:50277000-50318400	Weak transcription	Hela-S3	cervix
8	chr13:50280000-50308000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:50290000-50304600	Strong transcription	Liver	Liver
10	chr13:50290000-50306200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:50290000-50306800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:50290000-50324000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr13:50290000-50334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr13:50290200-50304600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:50290200-50316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:50290400-50306800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:50290400-50307200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:50290600-50304400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:50290800-50301400	Strong transcription	Placenta	Placenta
20	chr13:50290800-50302600	Strong transcription	Adipose Nuclei	Adipose
21	chr13:50290800-50304200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:50291000-50301200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:50291000-50301200	Strong transcription	HSMM	muscle
24	chr13:50291000-50306800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:50291000-50306800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr13:50291200-50300600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:50291200-50301400	Strong transcription	Dnd41	blood
28	chr13:50292000-50300600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr13:50292600-50301800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:50293000-50304200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:50293200-50301000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:50293200-50326000	Weak transcription	Fetal Brain Male	brain
33	chr13:50294200-50305400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr13:50294200-50315000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:50294200-50324000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr13:50294400-50333000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr13:50294600-50301200	Strong transcription	Fetal Muscle Leg	muscle
38	chr13:50294800-50314200	Weak transcription	Stomach Mucosa	stomach
39	chr13:50295200-50301000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr13:50296200-50307600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr13:50296200-50330400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:50296400-50302000	Weak transcription	Thymus	Thymus
43	chr13:50296400-50307200	Weak transcription	Psoas Muscle	Psoas
44	chr13:50296400-50307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:50296400-50320200	Weak transcription	Spleen	Spleen
46	chr13:50296600-50302200	Weak transcription	K562	blood
47	chr13:50296600-50305800	Weak transcription	A549	lung
48	chr13:50296600-50306000	Weak transcription	NHLF	lung
49	chr13:50296600-50307800	Weak transcription	Brain Substantia Nigra	brain
50	chr13:50296600-50307800	Weak transcription	Lung	lung

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