Variant report

Variant	rs6561556
Chromosome Location	chr13:50265747-50265748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:339)
CpG islands
(count:122)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr13:50265477-50265757	Hela-S3	cervix:	n/a	n/a
2	YY1	chr13:50265302-50265784	GM12892	blood:	n/a	n/a
3	FOS	chr13:50265688-50266026	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr13:50265323-50265962	GM10847	blood:	n/a	n/a
5	POLR2A	chr13:50265240-50265962	ECC-1	luminal epithelium:	n/a	n/a
6	MYBL2	chr13:50265391-50266000	HepG2	liver:	n/a	n/a
7	ELF1	chr13:50265078-50265880	GM12878	blood:	n/a	chr13:50265222-50265234
8	POLR2A	chr13:50265119-50265982	GM18505	blood:	n/a	n/a
9	POLR2A	chr13:50265248-50265885	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr13:50265502-50266142	HCT-116	colon:	n/a	chr13:50265840-50265849 chr13:50265840-50265849 chr13:50265840-50265849 chr13:50265840-50265849
11	TCF12	chr13:50265651-50265923	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr13:50264807-50266122	MCF10A-Er-Src	breast:	n/a	chr13:50266048-50266058
13	POLR2A	chr13:50265348-50265963	GM18526	blood:	n/a	n/a
14	POLR2A	chr13:50265296-50265960	HUVEC	blood vessel:	n/a	n/a
15	FOXP2	chr13:50265445-50265781	SK-N-MC	brain:	n/a	n/a
16	MXI1	chr13:50265178-50265995	HepG2	liver:	n/a	n/a
17	E2F4	chr13:50265562-50266009	MCF10A-Er-Src	breast:	n/a	n/a
18	JUND	chr13:50265336-50266087	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUND	chr13:50265334-50265925	A549	lung:	n/a	n/a
20	POLR2A	chr13:50265300-50266015	PFSK-1	brain:	n/a	n/a
21	STAT1	chr13:50265326-50265984	GM12878	blood:	n/a	n/a
22	CEBPB	chr13:50265494-50266036	H1-hESC	embryonic stem cell:	n/a	chr13:50265840-50265849 chr13:50265840-50265849 chr13:50265840-50265849 chr13:50265840-50265849
23	MYC	chr13:50265207-50265975	MCF-7	breast:	n/a	n/a
24	POLR2A	chr13:50265187-50266074	HUVEC	blood vessel:	n/a	n/a
25	CEBPB	chr13:50265712-50265917	HepG2	liver:	n/a	chr13:50265840-50265849 chr13:50265840-50265849 chr13:50265840-50265849 chr13:50265840-50265849
26	TBL1XR1	chr13:50265672-50265892	GM12878	blood:	n/a	n/a
27	YY1	chr13:50265386-50265856	K562	blood:	n/a	n/a
28	MAX	chr13:50264970-50266242	A549	lung:	n/a	chr13:50266048-50266058
29	MAX	chr13:50265298-50266088	MCF-7	breast:	n/a	chr13:50266048-50266058
30	YY1	chr13:50265165-50265894	H1-hESC	embryonic stem cell:	n/a	chr13:50265229-50265238 chr13:50265224-50265238
31	POLR2A	chr13:50265232-50266035	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr13:50265559-50265935	K562	blood:	n/a	n/a
33	MYC	chr13:50265470-50265922	MCF-7	breast:	n/a	n/a
34	POLR2A	chr13:50265365-50265903	HepG2	liver:	n/a	n/a
35	POLR2A	chr13:50264839-50266021	GM12891	blood:	n/a	n/a
36	POLR2A	chr13:50264743-50266012	NB4	blood:	n/a	n/a
37	CEBPB	chr13:50265611-50266135	MCF-7	breast:	n/a	chr13:50265840-50265849 chr13:50265840-50265849 chr13:50265840-50265849 chr13:50265840-50265849
38	BCL3	chr13:50265588-50266085	A549	lung:	n/a	n/a
39	HEY1	chr13:50265365-50265907	K562	blood:	n/a	n/a
40	POLR2A	chr13:50265277-50265967	Hela-S3	cervix:	n/a	n/a
41	JUND	chr13:50265478-50265916	K562	blood:	n/a	n/a
42	POLR2A	chr13:50264906-50266121	H1-hESC	embryonic stem cell:	n/a	n/a
43	IRF1	chr13:50265502-50265811	K562	blood:	n/a	n/a
44	YY1	chr13:50264933-50266016	H1-hESC	embryonic stem cell:	n/a	chr13:50265229-50265238 chr13:50265224-50265238
45	POLR2A	chr13:50265426-50265969	K562	blood:	n/a	n/a
46	TAF1	chr13:50265100-50266018	ECC-1	luminal epithelium:	n/a	n/a
47	ZNF143	chr13:50265441-50265841	GM12878	blood:	n/a	n/a
48	MAFK	chr13:50265488-50265939	Hela-S3	cervix:	n/a	n/a
49	MAFF	chr13:50265610-50265896	HepG2	liver:	n/a	chr13:50265767-50265785
50	POLR2A	chr13:50265211-50266114	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50265747-50265797	Hepatocyte	liver:	n/a
2	chr13:50265738-50265788	A549	lung:	n/a
3	chr13:50265738-50265788	AoSMC	blood vessel:	n/a
4	chr13:50265747-50265797	NT2-D1	testis:	n/a
5	chr13:50265747-50265797	AG04449	skin:	fetal
6	chr13:50265738-50265788	RPTEC	kidney:	n/a
7	chr13:50265738-50265788	BJ	skin:	n/a
8	chr13:50265738-50265788	HepG2	liver:	n/a
9	chr13:50265747-50265797	BJ	skin:	n/a
10	chr13:50265738-50265788	ovcar-3	ovarian:	n/a
11	chr13:50265738-50265788	AG04450	lung:	fetal
12	chr13:50265738-50265788	HCPEpiC	choroid plexus:	n/a
13	chr13:50265738-50265788	CMK	blood:	n/a
14	chr13:50265747-50265797	LNCaP	prostate:	n/a
15	chr13:50265747-50265797	AoSMC	blood vessel:	n/a
16	chr13:50265747-50265797	GM12892	blood:	n/a
17	chr13:50265738-50265788	Jurkat	blood:	n/a
18	chr13:50265738-50265788	HIPEpiC	eye:	n/a
19	chr13:50265738-50265788	AG09309	skin:	n/a
20	chr13:50265747-50265797	GM12891	blood:	n/a
21	chr13:50265747-50265797	ProgFib	skin:	n/a
22	chr13:50265747-50265797	K562	blood:	n/a
23	chr13:50265747-50265797	NB4	blood:	n/a
24	chr13:50265738-50265788	AG04449	skin:	fetal
25	chr13:50265738-50265788	GM06990	blood:	n/a
26	chr13:50265747-50265797	MCF-7	breast:	n/a
27	chr13:50265747-50265797	HEEpiC	esophagus:	n/a
28	chr13:50265747-50265797	GM12878	blood:	n/a
29	chr13:50265747-50265797	GM06990	blood:	n/a
30	chr13:50265738-50265788	LNCaP	prostate:	n/a
31	chr13:50265747-50265797	Caco-2	colon:	n/a
32	chr13:50265747-50265797	H1-hESC	embryonic stem cell:	embryo
33	chr13:50265738-50265788	BE2_C	brain:	n/a
34	chr13:50265747-50265797	NH-A	brain:	n/a
35	chr13:50265738-50265788	HMEC	breast:	n/a
36	chr13:50265747-50265797	AG04450	lung:	fetal
37	chr13:50265738-50265788	HRE	kidney:	n/a
38	chr13:50265747-50265797	BE2_C	brain:	n/a
39	chr13:50265747-50265797	GM19239	blood:	n/a
40	chr13:50265747-50265797	HRE	kidney:	n/a
41	chr13:50265738-50265788	HNPCEpiC	eye:	n/a
42	chr13:50265747-50265797	AG09319	gingival:	n/a
43	chr13:50265747-50265797	NHBE	bronchial:	n/a
44	chr13:50265738-50265788	HPAEpiC	pulmonary alveolar:	n/a
45	chr13:50265738-50265788	HCT-116	colon:	n/a
46	chr13:50265738-50265788	H1-hESC	embryonic stem cell:	embryo
47	chr13:50265738-50265788	HCM	heart:	n/a
48	chr13:50265747-50265797	Jurkat	blood:	n/a
49	chr13:50265747-50265797	HIPEpiC	eye:	n/a
50	chr13:50265738-50265788	HCF	heart:	n/a

(count:9 , 50 per page) page: 1

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	chr13:50265388..50266260-chr8:67837758..67838423,2	NB4	blood:
4	chr13:50261767..50269137-chr13:50365068..50368535,12	MCF-7	breast:
5	chr13:50265440..50265952-chr5:95997558..95998198,2	HCT-116	colon:
6	chr12:53701001..53701522-chr13:50265680..50266200,2	NB4	blood:
7	chr13:50265747..50268429-chr13:50268822..50272035,3	K562	blood:
8	chr13:50262508..50268089-chr13:50363531..50368771,13	MCF-7	breast:
9	chr13:50263387..50266299-chr13:50365424..50368132,3	K562	blood:

No data

Variant related genes	Relation type
EBPL	TF binding region
EBPL	CpG island
ENSG00000153113	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000102753	Chromatin interaction
ENSG00000245910	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11839475	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12428286	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1407439	0.88[ASN][1000 genomes]
rs2273817	0.88[ASN][1000 genomes]
rs35150514	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35526541	0.88[ASN][1000 genomes]
rs56006419	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61959916	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61959917	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61959930	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61959931	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61959935	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61959938	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7321073	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7321709	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7332209	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs734223	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs748678	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9535314	0.88[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6561556	EBPL	cis	Esophagus Mucosa	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	chr13:50264200-50265800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:50264200-50265800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:50264200-50265800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr13:50264200-50266000	Active TSS	Lung	lung
12	chr13:50264200-50266000	Active TSS	Pancreas	Pancrea
13	chr13:50264200-50266200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr13:50264200-50266200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr13:50264200-50266200	Active TSS	Ovary	ovary
16	chr13:50264400-50265800	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr13:50264400-50265800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:50264400-50265800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:50264400-50265800	Active TSS	Fetal Muscle Trunk	muscle
20	chr13:50264400-50266000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:50264400-50266000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr13:50264400-50266000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:50264400-50266000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:50264400-50266000	Active TSS	Fetal Intestine Large	intestine
25	chr13:50264400-50266000	Active TSS	A549	lung
26	chr13:50264400-50266200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr13:50264400-50266200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:50264400-50266200	Active TSS	Brain Cingulate Gyrus	brain
29	chr13:50264400-50266200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr13:50264400-50266200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:50264400-50266200	Active TSS	Fetal Intestine Small	intestine
32	chr13:50264400-50266200	Active TSS	Fetal Kidney	kidney
33	chr13:50264400-50266200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr13:50264400-50266200	Active TSS	Right Ventricle	heart
35	chr13:50264400-50266200	Active TSS	Thymus	Thymus
36	chr13:50264400-50266200	Active TSS	NHDF-Ad	bronchial
37	chr13:50264400-50266400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:50264400-50266400	Active TSS	Colonic Mucosa	Colon
39	chr13:50264400-50266400	Active TSS	Fetal Brain Female	brain
40	chr13:50264600-50265800	Active TSS	Muscle Satellite Cultured Cells	--
41	chr13:50264600-50265800	Active TSS	Placenta	Placenta
42	chr13:50264600-50265800	Active TSS	K562	blood
43	chr13:50264600-50266000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:50264600-50266000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:50264600-50266000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:50264600-50266000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:50264600-50266000	Active TSS	Right Atrium	heart
48	chr13:50264600-50266000	Active TSS	Stomach Smooth Muscle	stomach
49	chr13:50264600-50266200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:50264600-50266200	Active TSS	HUES6 Cell Line	embryonic stem cell

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