Variant report

Variant	rs9568307
Chromosome Location	chr13:50265228-50265229
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62608913..62609703-chr13:50265093..50265766,2	Hela-S3	cervix:
2	chr13:50263387..50265868-chr13:50365424..50368677,3	K562	blood:
3	chr13:50264944..50265463-chr3:15900847..15901384,2	MCF-7	breast:
4	chr13:50261767..50269137-chr13:50365068..50368535,12	MCF-7	breast:
5	chr13:50262508..50268089-chr13:50363531..50368771,13	MCF-7	breast:
6	chr13:50263387..50266299-chr13:50365424..50368132,3	K562	blood:

Variant related genes	Relation type
ENSG00000206560	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3809325	0.85[AFR][1000 genomes]
rs61959939	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6561554	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561555	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561557	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7319887	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568306	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568312	0.90[ASN][1000 genomes]
rs9591292	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9568307	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs9568307	EBPL	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50263600-50266000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:50263800-50266200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:50264000-50265800	Active TSS	Hela-S3	cervix
4	chr13:50264000-50266000	Active TSS	GM12878-XiMat	blood
5	chr13:50264000-50266200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:50264000-50266200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr13:50264000-50266200	Active TSS	HSMM	muscle
8	chr13:50264200-50265600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:50264200-50265800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:50264200-50265800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:50264200-50265800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr13:50264200-50266000	Active TSS	Lung	lung
13	chr13:50264200-50266000	Active TSS	Pancreas	Pancrea
14	chr13:50264200-50266200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr13:50264200-50266200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr13:50264200-50266200	Active TSS	Ovary	ovary
17	chr13:50264400-50265400	Bivalent/Poised TSS	HepG2	liver
18	chr13:50264400-50265800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr13:50264400-50265800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:50264400-50265800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:50264400-50265800	Active TSS	Fetal Muscle Trunk	muscle
22	chr13:50264400-50266000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:50264400-50266000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr13:50264400-50266000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:50264400-50266000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:50264400-50266000	Active TSS	Fetal Intestine Large	intestine
27	chr13:50264400-50266000	Active TSS	A549	lung
28	chr13:50264400-50266200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr13:50264400-50266200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:50264400-50266200	Active TSS	Brain Cingulate Gyrus	brain
31	chr13:50264400-50266200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr13:50264400-50266200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr13:50264400-50266200	Active TSS	Fetal Intestine Small	intestine
34	chr13:50264400-50266200	Active TSS	Fetal Kidney	kidney
35	chr13:50264400-50266200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr13:50264400-50266200	Active TSS	Right Ventricle	heart
37	chr13:50264400-50266200	Active TSS	Thymus	Thymus
38	chr13:50264400-50266200	Active TSS	NHDF-Ad	bronchial
39	chr13:50264400-50266400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:50264400-50266400	Active TSS	Colonic Mucosa	Colon
41	chr13:50264400-50266400	Active TSS	Fetal Brain Female	brain
42	chr13:50264600-50265600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr13:50264600-50265800	Active TSS	Muscle Satellite Cultured Cells	--
44	chr13:50264600-50265800	Active TSS	Placenta	Placenta
45	chr13:50264600-50265800	Active TSS	K562	blood
46	chr13:50264600-50266000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:50264600-50266000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:50264600-50266000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:50264600-50266000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:50264600-50266000	Active TSS	Right Atrium	heart

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