Variant report

Variant	rs9568309
Chromosome Location	chr13:50266248-50266249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr13:50264595-50266428	A549	lung:	n/a	chr13:50266048-50266058
2	HCFC1	chr13:50264676-50266308	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr13:50266206-50266258	GM12878	blood:	n/a	n/a
4	MAZ	chr13:50264334-50266334	IMR90	lung:	n/a	chr13:50266048-50266058
5	CEBPB	chr13:50265494-50266305	HCT-116	colon:	n/a	chr13:50265840-50265849 chr13:50265840-50265849 chr13:50265840-50265849 chr13:50265840-50265849
6	POLR2A	chr13:50264872-50266268	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr13:50264254-50266395	IMR90	lung:	n/a	n/a
8	MXI1	chr13:50264145-50266409	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50266227-50266277	SAEC	small airway:	n/a
2	chr13:50266227-50266277	H1-hESC	embryonic stem cell:	embryo
3	chr13:50266227-50266277	MCF-7	breast:	n/a
4	chr13:50266227-50266277	GM12891	blood:	n/a
5	chr13:50266227-50266277	HNPCEpiC	eye:	n/a
6	chr13:50266227-50266277	HepG2	liver:	n/a
7	chr13:50266227-50266277	BE2_C	brain:	n/a
8	chr13:50266227-50266277	SKMC	muscle:	n/a
9	chr13:50266227-50266277	HIPEpiC	eye:	n/a
10	chr13:50266227-50266277	HAEpiC	amniotic membrane:	n/a
11	chr13:50266227-50266277	NT2-D1	testis:	n/a
12	chr13:50266227-50266277	Jurkat	blood:	n/a
13	chr13:50266227-50266277	AG09319	gingival:	n/a
14	chr13:50266227-50266277	GM19239	blood:	n/a
15	chr13:50266227-50266277	GM12892	blood:	n/a
16	chr13:50266227-50266277	AoSMC	blood vessel:	n/a
17	chr13:50266227-50266277	HCM	heart:	n/a
18	chr13:50266227-50266277	A549	lung:	n/a
19	chr13:50266227-50266277	HEK293	kidney:	embryo
20	chr13:50266227-50266277	CMK	blood:	n/a
21	chr13:50266227-50266277	AG09309	skin:	n/a
22	chr13:50266227-50266277	PFSK-1	brain:	n/a
23	chr13:50266227-50266277	LNCaP	prostate:	n/a
24	chr13:50266227-50266277	HRPEpiC	eye:	n/a
25	chr13:50266227-50266277	HUVEC	blood vessel:	n/a
26	chr13:50266227-50266277	ECC-1	luminal epithelium:	n/a
27	chr13:50266227-50266277	Hepatocyte	liver:	n/a
28	chr13:50266227-50266277	PANC-1	pancreas:	n/a
29	chr13:50266227-50266277	NHBE	bronchial:	n/a
30	chr13:50266227-50266277	Hela-S3	cervix:	n/a
31	chr13:50266227-50266277	AG04449	skin:	fetal
32	chr13:50266227-50266277	SK-N-SH_RA	brain:	n/a
33	chr13:50266227-50266277	T-47D	breast:	n/a
34	chr13:50266227-50266277	NH-A	brain:	n/a
35	chr13:50266227-50266277	IMR90	lung:	fetal
36	chr13:50266227-50266277	NB4	blood:	n/a
37	chr13:50266227-50266277	GM12878	blood:	n/a
38	chr13:50266227-50266277	HCT-116	colon:	n/a
39	chr13:50266227-50266277	SK-N-MC	brain:	n/a
40	chr13:50266227-50266277	Caco-2	colon:	n/a
41	chr13:50266227-50266277	SK-N-SH	brain:	n/a
42	chr13:50266227-50266277	HEEpiC	esophagus:	n/a
43	chr13:50266227-50266277	GM06990	blood:	n/a
44	chr13:50266227-50266277	HCPEpiC	choroid plexus:	n/a
45	chr13:50266227-50266277	BJ	skin:	n/a
46	chr13:50266227-50266277	U87	brain:	n/a
47	chr13:50266227-50266277	HRCEpiC	kidney:	n/a
48	chr13:50266227-50266277	ovcar-3	ovarian:	n/a
49	chr13:50266227-50266277	HCF	heart:	n/a
50	chr13:50266227-50266277	HMEC	breast:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50265861..50268328-chr13:50270535..50273310,2	K562	blood:
2	chr13:50266035..50267824-chr13:50362193..50365135,2	K562	blood:
3	chr13:50265388..50266260-chr8:67837758..67838423,2	NB4	blood:
4	chr13:50261767..50269137-chr13:50365068..50368535,12	MCF-7	breast:
5	chr13:50265747..50268429-chr13:50268822..50272035,3	K562	blood:
6	chr13:50262508..50268089-chr13:50363531..50368771,13	MCF-7	breast:
7	chr13:50263387..50266299-chr13:50365424..50368132,3	K562	blood:

No data

Variant related genes	Relation type
EBPL	TF binding region
EBPL	CpG island
ENSG00000245910	Chromatin interaction
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11148160	0.86[ASN][1000 genomes]
rs12864534	0.98[ASN][1000 genomes]
rs12877931	0.98[ASN][1000 genomes]
rs2146143	0.92[ASN][1000 genomes]
rs35331571	0.96[ASN][1000 genomes]
rs6561550	0.92[ASN][1000 genomes]
rs6561552	0.92[ASN][1000 genomes]
rs6561553	0.89[ASN][1000 genomes]
rs73192666	0.92[ASN][1000 genomes]
rs7446	0.98[ASN][1000 genomes]
rs7997798	0.98[ASN][1000 genomes]
rs942032	0.92[ASN][1000 genomes]
rs9526592	0.98[ASN][1000 genomes]
rs9535287	0.83[ASN][1000 genomes]
rs9535301	1.00[ASN][1000 genomes]
rs9535302	0.86[ASN][1000 genomes]
rs9535309	0.86[ASN][1000 genomes]
rs9535315	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9568309	EBPL	cis	Esophagus Muscularis	GTEx
rs9568309	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs9568309	EBPL	cis	Adipose Subcutaneous	GTEx
rs9568309	KPNA3	Cis_1M	lymphoblastoid	RTeQTL
rs9568309	EBPL	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50264400-50266400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:50264400-50266400	Active TSS	Colonic Mucosa	Colon
3	chr13:50264400-50266400	Active TSS	Fetal Brain Female	brain
4	chr13:50264600-50266400	Active TSS	Esophagus	oesophagus
5	chr13:50264800-50266400	Active TSS	Brain Anterior Caudate	brain
6	chr13:50265000-50266400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:50265000-50266400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:50265000-50266400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:50265000-50266400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:50265000-50266400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:50265000-50266400	Active TSS	Liver	Liver
12	chr13:50265000-50266400	Active TSS	Duodenum Mucosa	Duodenum
13	chr13:50265200-50266400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr13:50265200-50266400	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr13:50265200-50266400	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr13:50265600-50266400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:50265600-50266400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:50265600-50267600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:50265800-50266400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr13:50265800-50266400	Flanking Active TSS	Dnd41	blood
21	chr13:50266000-50266400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr13:50266000-50266400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr13:50266000-50266400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr13:50266000-50266400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:50266000-50266400	Flanking Active TSS	Pancreas	Pancrea
26	chr13:50266000-50266400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr13:50266000-50266400	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr13:50266000-50266400	Flanking Active TSS	A549	lung
29	chr13:50266000-50266400	Flanking Active TSS	HepG2	liver
30	chr13:50266000-50266400	Flanking Active TSS	HMEC	breast
31	chr13:50266000-50266600	Flanking Active TSS	NHEK	skin
32	chr13:50266000-50268200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr13:50266000-50273000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:50266000-50278200	Weak transcription	Lung	lung
35	chr13:50266000-50284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:50266200-50266400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr13:50266200-50266400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:50266200-50266400	Enhancers	Primary B cells from cord blood	blood
39	chr13:50266200-50266400	Enhancers	Primary B cells from peripheral blood	blood
40	chr13:50266200-50266400	Active TSS	Primary T cells from cord blood	blood
41	chr13:50266200-50266400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr13:50266200-50266400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr13:50266200-50266400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr13:50266200-50266400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:50266200-50266400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr13:50266200-50266400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr13:50266200-50266400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:50266200-50266400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:50266200-50266400	Enhancers	Fetal Muscle Trunk	muscle
50	chr13:50266200-50266400	Enhancers	Fetal Muscle Leg	muscle

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