Variant report

Variant	rs9568332
Chromosome Location	chr13:50365819-50365820
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50365172..50367900-chr13:50655465..50657230,2	K562	blood:
2	chr13:50262508..50268089-chr13:50363531..50368771,13	MCF-7	breast:
3	chr13:50363329..50366279-chr13:50509762..50511637,2	MCF-7	breast:
4	chr13:50261767..50269137-chr13:50365068..50368535,12	MCF-7	breast:
5	chr13:50365136..50367359-chr13:50509492..50511604,3	MCF-7	breast:
6	chr13:50253326..50254069-chr13:50365169..50365855,3	MCF-7	breast:
7	chr13:50365087..50367801-chr13:50569333..50572997,5	MCF-7	breast:
8	chr13:50263387..50266299-chr13:50365424..50368132,3	K562	blood:
9	chr13:50363476..50366040-chr13:51498906..51500626,2	K562	blood:
10	chr13:50263387..50265868-chr13:50365424..50368677,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000123178	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000123179	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1009334	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1198314	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1198316	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1198317	0.80[AFR][1000 genomes]
rs1198318	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1198326	1.00[EUR][1000 genomes]
rs1198331	0.95[EUR][1000 genomes]
rs1923661	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1967761	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2407701	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2897769	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3903769	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6561564	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs716371	0.97[EUR][1000 genomes]
rs7994774	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8000298	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8000321	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9562920	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9562923	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9562924	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568315	0.88[EUR][1000 genomes]
rs9568319	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568320	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568327	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568328	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568331	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957475	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591301	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596178	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9596179	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9596190	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	esv3421253	chr13:50364151-50368649	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	esv3433889	chr13:50365601-50367799	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9568332	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs9568332	EBPL	cis	Skin Sun Exposed Lower leg	GTEx
rs9568332	EBPL	cis	Esophagus Muscularis	GTEx
rs9568332	EBPL	cis	Artery Tibial	GTEx
rs9568332	EBPL	cis	Nerve Tibial	GTEx
rs9568332	EBPL	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50364000-50367600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:50364200-50367800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr13:50364600-50366000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:50364600-50366000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr13:50364600-50367600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:50364600-50367800	Active TSS	Aorta	Aorta
7	chr13:50364600-50368000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr13:50364600-50368000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:50364600-50368000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr13:50364800-50366000	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr13:50364800-50366000	Flanking Active TSS	Liver	Liver
12	chr13:50364800-50366600	Active TSS	Right Atrium	heart
13	chr13:50364800-50367600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:50364800-50367600	Active TSS	Colonic Mucosa	Colon
15	chr13:50364800-50367800	Active TSS	A549	lung
16	chr13:50364800-50368000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr13:50365000-50366000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr13:50365000-50366000	Active TSS	Fetal Brain Male	brain
19	chr13:50365000-50367400	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr13:50365000-50367400	Active TSS	Fetal Intestine Large	intestine
21	chr13:50365000-50367400	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr13:50365000-50367400	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr13:50365000-50367400	Active TSS	HMEC	breast
24	chr13:50365000-50367400	Active TSS	NHLF	lung
25	chr13:50365000-50367600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:50365000-50367600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:50365000-50367600	Active TSS	Fetal Intestine Small	intestine
28	chr13:50365000-50367600	Active TSS	Fetal Kidney	kidney
29	chr13:50365000-50367600	Active TSS	GM12878-XiMat	blood
30	chr13:50365000-50367600	Active TSS	K562	blood
31	chr13:50365000-50367600	Active TSS	NHDF-Ad	bronchial
32	chr13:50365000-50367800	Active TSS	HSMMtube	muscle
33	chr13:50365000-50368000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr13:50365000-50368000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:50365200-50366000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr13:50365200-50366000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr13:50365200-50366000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr13:50365200-50366000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:50365200-50366000	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr13:50365200-50366000	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr13:50365200-50366200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr13:50365200-50367400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:50365200-50367400	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr13:50365200-50367400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr13:50365200-50367400	Active TSS	Fetal Thymus	thymus
46	chr13:50365200-50367400	Active TSS	HSMM	muscle
47	chr13:50365200-50367600	Active TSS	Fetal Muscle Trunk	muscle
48	chr13:50365200-50367600	Active TSS	Fetal Muscle Leg	muscle
49	chr13:50365200-50367600	Active TSS	Placenta	Placenta
50	chr13:50365200-50367600	Active TSS	Psoas Muscle	Psoas

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