Variant report

Variant	rs9568331
Chromosome Location	chr13:50357970-50357971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50356308..50362290-chr13:50362376..50368273,10	K562	blood:
2	chr13:50352653..50354938-chr13:50357340..50359158,2	MCF-7	breast:
3	chr13:50351267..50358317-chr13:50361760..50368621,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs1009334	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1198314	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1198316	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1198318	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1198326	0.95[EUR][1000 genomes]
rs1198331	0.90[EUR][1000 genomes]
rs1923661	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1967761	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2407701	0.90[EUR][1000 genomes]
rs2897769	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3903769	0.92[EUR][1000 genomes]
rs6561564	0.95[EUR][1000 genomes]
rs716371	0.92[EUR][1000 genomes]
rs7994774	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8000298	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8000321	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9562920	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9562923	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9562924	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568315	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9568319	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568320	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568327	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568328	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568332	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957475	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591301	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596178	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9596179	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9596190	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1038	chr13:50324773-50359990	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv900075	chr13:50331992-50376858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9568331	EBPL	cis	Nerve Tibial	GTEx
rs9568331	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs9568331	EBPL	cis	Esophagus Muscularis	GTEx
rs9568331	EBPL	cis	Thyroid	GTEx
rs9568331	EBPL	cis	Skin Sun Exposed Lower leg	GTEx
rs9568331	EBPL	cis	Artery Tibial	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50321000-50363800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr13:50336200-50364800	Weak transcription	Fetal Intestine Small	intestine
3	chr13:50336800-50364600	Weak transcription	NHLF	lung
4	chr13:50339200-50358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr13:50339800-50358800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:50341200-50359400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr13:50349600-50365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:50349600-50365400	Weak transcription	Lung	lung
9	chr13:50350600-50358600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:50351200-50364200	Weak transcription	HSMM	muscle
11	chr13:50351200-50364600	Weak transcription	HSMMtube	muscle
12	chr13:50351400-50362600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:50351400-50363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr13:50351600-50359200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:50351600-50359200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:50351600-50360800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:50351600-50363800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr13:50351800-50359400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:50351800-50363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:50351800-50364000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:50352000-50365200	Weak transcription	Fetal Thymus	thymus
22	chr13:50352400-50364400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr13:50352600-50358200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:50352600-50363800	Weak transcription	Pancreas	Pancrea
25	chr13:50352600-50363800	Weak transcription	Thymus	Thymus
26	chr13:50352600-50364800	Weak transcription	A549	lung
27	chr13:50353000-50358000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:50353000-50359200	Weak transcription	Liver	Liver
29	chr13:50353000-50359800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr13:50353000-50360400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr13:50353000-50363800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr13:50353000-50363800	Weak transcription	Small Intestine	intestine
33	chr13:50353200-50360800	Weak transcription	Primary T cells from cord blood	blood
34	chr13:50353800-50363800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:50354200-50363800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr13:50354200-50363800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr13:50354200-50364400	Weak transcription	Right Atrium	heart
38	chr13:50354200-50365400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr13:50354400-50361200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr13:50354400-50362600	Weak transcription	Dnd41	blood
41	chr13:50354400-50363200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr13:50354400-50363600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr13:50354400-50365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr13:50354600-50360400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr13:50354800-50359200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr13:50354800-50362400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr13:50355000-50361200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr13:50355200-50361200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr13:50355600-50360800	Weak transcription	Fetal Lung	lung
50	chr13:50355800-50358600	Weak transcription	Colon Smooth Muscle	Colon

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