Variant report

Variant	rs544643080
Chromosome Location	chr13:50510572-50510573
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:450)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:50510124-50510599	HepG2	liver:	n/a	n/a
2	MYC	chr13:50510245-50510598	HUVEC	blood vessel:	n/a	n/a
3	TAF1	chr13:50510337-50510595	H1-hESC	embryonic stem cell:	n/a	n/a
4	SMC3	chr13:50510332-50510664	K562	blood:	n/a	n/a
5	POLR2A	chr13:50510191-50510645	Hela-S3	cervix:	n/a	n/a
6	PAX5	chr13:50510184-50511022	GM12878	blood:	n/a	chr13:50510638-50510657
7	GABPA	chr13:50510241-50510798	K562	blood:	n/a	chr13:50510639-50510648 chr13:50510696-50510710 chr13:50510693-50510707 chr13:50510696-50510707 chr13:50510698-50510707
8	POLR2A	chr13:50510209-50510859	HCT-116	colon:	n/a	n/a
9	EP300	chr13:50510236-50510948	GM12878	blood:	n/a	n/a
10	ZNF143	chr13:50509887-50510744	Hela-S3	cervix:	n/a	chr13:50510160-50510170
11	CTCF	chr13:50510295-50510643	LNCaP	prostate:	n/a	n/a
12	RCOR1	chr13:50509909-50510883	HepG2	liver:	n/a	n/a
13	MYC	chr13:50509928-50510800	MCF-7	breast:	n/a	chr13:50510651-50510661
14	CTCF	chr13:50510233-50510637	T-47D	breast:	n/a	n/a
15	ELF1	chr13:50510323-50510762	HepG2	liver:	n/a	chr13:50510642-50510651
16	POLR2A	chr13:50509854-50510823	GM12878	blood:	n/a	n/a
17	MAX	chr13:50509736-50511178	SK-N-SH	brain:	n/a	chr13:50511019-50511028 chr13:50511016-50511027 chr13:50510651-50510661
18	CTCF	chr13:50510460-50510610	HCT-116	colon:	n/a	n/a
19	POLR2A	chr13:50509769-50511260	GM12892	blood:	n/a	n/a
20	ETS1	chr13:50510358-50510597	A549	lung:	n/a	n/a
21	CTCF	chr13:50510203-50510678	HepG2	liver:	n/a	n/a
22	HDAC2	chr13:50509772-50510917	HepG2	liver:	n/a	n/a
23	WRNIP1	chr13:50510372-50510634	GM12878	blood:	n/a	n/a
24	USF2	chr13:50510425-50510732	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr13:50510202-50510918	HepG2	liver:	n/a	n/a
26	CTCF	chr13:50510234-50510733	H1-hESC	embryonic stem cell:	n/a	n/a
27	HCFC1	chr13:50509342-50511153	Hela-S3	cervix:	n/a	n/a
28	KAP1	chr13:50510089-50510933	HEK293	kidney:	n/a	n/a
29	CTCF	chr13:50510337-50510676	ECC-1	luminal epithelium:	n/a	n/a
30	PAX5	chr13:50510567-50510813	GM12878	blood:	n/a	chr13:50510638-50510657
31	USF2	chr13:50510438-50511138	GM12878	blood:	n/a	n/a
32	MXI1	chr13:50509251-50511503	SK-N-SH	brain:	n/a	n/a
33	CREB1	chr13:50510244-50510817	A549	lung:	n/a	n/a
34	POLR2A	chr13:50509686-50511055	U87	brain:	n/a	n/a
35	POLR2A	chr13:50509848-50511344	MCF-7	breast:	n/a	n/a
36	POLR2A	chr13:50510200-50511130	GM12892	blood:	n/a	n/a
37	ZBTB7A	chr13:50509867-50510839	K562	blood:	n/a	n/a
38	POLR2A	chr13:50510144-50511035	GM12891	blood:	n/a	n/a
39	CTCF	chr13:50510440-50510590	HCPEpiC	choroid plexus:	n/a	n/a
40	EP300	chr13:50510340-50510663	GM12878	blood:	n/a	n/a
41	CTCF	chr13:50510198-50510737	MCF-7	breast:	n/a	n/a
42	SIN3AK20	chr13:50509830-50510965	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr13:50510185-50510795	GM12891	blood:	n/a	n/a
44	POLR2A	chr13:50509959-50510710	HepG2	liver:	n/a	n/a
45	REST	chr13:50510191-50510631	A549	lung:	n/a	n/a
46	CTCF	chr13:50510267-50510709	GM19238	blood:	n/a	n/a
47	ELF1	chr13:50510293-50510605	A549	lung:	n/a	n/a
48	ETS1	chr13:50510248-50510885	GM12878	blood:	n/a	n/a
49	BHLHE40	chr13:50509964-50511018	HepG2	liver:	n/a	n/a
50	MAFK	chr13:50510352-50510823	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50510551-50510601	BE2_C	brain:	n/a
2	chr13:50510551-50510601	GM12878	blood:	n/a
3	chr13:50510551-50510601	HepG2	liver:	n/a
4	chr13:50510551-50510601	AG10803	skin:	n/a
5	chr13:50510551-50510601	HMEC	breast:	n/a
6	chr13:50510551-50510601	PFSK-1	brain:	n/a
7	chr13:50510551-50510601	SK-N-MC	brain:	n/a
8	chr13:50510551-50510601	Caco-2	colon:	n/a
9	chr13:50510551-50510601	NHDF-neo	bronchial:	n/a
10	chr13:50510551-50510601	Jurkat	blood:	n/a
11	chr13:50510551-50510601	HRE	kidney:	n/a
12	chr13:50510551-50510601	NHBE	bronchial:	n/a
13	chr13:50510551-50510601	GM06990	blood:	n/a
14	chr13:50510551-50510601	PANC-1	pancreas:	n/a
15	chr13:50510551-50510601	CMK	blood:	n/a
16	chr13:50510551-50510601	SK-N-SH_RA	brain:	n/a
17	chr13:50510551-50510601	Hela-S3	cervix:	n/a
18	chr13:50510551-50510601	HRCEpiC	kidney:	n/a
19	chr13:50510551-50510601	HRPEpiC	eye:	n/a
20	chr13:50510551-50510601	HNPCEpiC	eye:	n/a
21	chr13:50510551-50510601	K562	blood:	n/a
22	chr13:50510551-50510601	AoSMC	blood vessel:	n/a
23	chr13:50510551-50510601	LNCaP	prostate:	n/a
24	chr13:50510551-50510601	PrEC	prostate:	n/a
25	chr13:50510551-50510601	MCF-7	breast:	n/a
26	chr13:50510551-50510601	T-47D	breast:	n/a
27	chr13:50510551-50510601	SKMC	muscle:	n/a
28	chr13:50510551-50510601	GM12891	blood:	n/a
29	chr13:50510551-50510601	NH-A	brain:	n/a
30	chr13:50510551-50510601	HCPEpiC	choroid plexus:	n/a
31	chr13:50510551-50510601	HL-60	blood:	n/a
32	chr13:50510551-50510601	BJ	skin:	n/a
33	chr13:50510551-50510601	HAEpiC	amniotic membrane:	n/a
34	chr13:50510551-50510601	A549	lung:	n/a
35	chr13:50510551-50510601	GM12892	blood:	n/a
36	chr13:50510551-50510601	NT2-D1	testis:	n/a
37	chr13:50510551-50510601	HPAEpiC	pulmonary alveolar:	n/a
38	chr13:50510551-50510601	MCF10A-Er-Src	breast:	n/a
39	chr13:50510551-50510601	GM19239	blood:	n/a
40	chr13:50510551-50510601	AG04450	lung:	fetal
41	chr13:50510551-50510601	SK-N-SH	brain:	n/a
42	chr13:50510551-50510601	ovcar-3	ovarian:	n/a
43	chr13:50510551-50510601	ECC-1	luminal epithelium:	n/a
44	chr13:50510551-50510601	HEK293	kidney:	embryo
45	chr13:50510551-50510601	U87	brain:	n/a
46	chr13:50510551-50510601	HUVEC	blood vessel:	n/a
47	chr13:50510551-50510601	ProgFib	skin:	n/a
48	chr13:50510551-50510601	HCF	heart:	n/a
49	chr13:50510551-50510601	HCT-116	colon:	n/a
50	chr13:50510551-50510601	HCM	heart:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50509071..50511034-chr13:50570092..50572951,3	K562	blood:
2	chr13:50509813..50511946-chr17:39844014..39846019,2	MCF-7	breast:
3	chr13:50365136..50367359-chr13:50509492..50511604,3	MCF-7	breast:
4	chr13:50510078..50512694-chr13:50569483..50571768,3	MCF-7	breast:
5	chr13:50510515..50512106-chr13:51482735..51485474,2	K562	blood:

No data

Variant related genes	Relation type
SPRYD7	TF binding region
SPRYD7	CpG island
ENSG00000102753	Chromatin interaction
ENSG00000136104	Chromatin interaction
ENSG00000233672	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1836423	chr13:50509784-50514706	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1836704	chr13:50509784-50514706	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1838605	chr13:50509784-50514706	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1834429	chr13:50509784-50536186	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50508800-50511400	Active TSS	Right Atrium	heart
2	chr13:50509000-50510800	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr13:50509000-50511400	Active TSS	A549	lung
4	chr13:50509000-50511400	Active TSS	K562	blood
5	chr13:50509000-50511600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:50509000-50511600	Active TSS	HMEC	breast
7	chr13:50509000-50511800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:50509200-50511400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:50509400-50511000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr13:50509400-50511200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:50509400-50511200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr13:50509400-50511200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:50509400-50511200	Active TSS	Brain Hippocampus Middle	brain
14	chr13:50509400-50511200	Active TSS	Psoas Muscle	Psoas
15	chr13:50509400-50511400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr13:50509400-50511400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr13:50509400-50511400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr13:50509400-50511400	Active TSS	Fetal Intestine Large	intestine
19	chr13:50509400-50511400	Active TSS	HSMMtube	muscle
20	chr13:50509400-50511600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:50509400-50511600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr13:50509400-50511600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr13:50509400-50511600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:50509400-50511600	Active TSS	NHLF	lung
25	chr13:50509600-50511000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr13:50509600-50511000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr13:50509600-50511000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:50509600-50511000	Active TSS	Fetal Muscle Trunk	muscle
29	chr13:50509600-50511000	Active TSS	Placenta	Placenta
30	chr13:50509600-50511000	Active TSS	Hela-S3	cervix
31	chr13:50509600-50511200	Active TSS	Muscle Satellite Cultured Cells	--
32	chr13:50509600-50511200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:50509600-50511200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr13:50509600-50511200	Active TSS	Fetal Lung	lung
35	chr13:50509600-50511200	Active TSS	Lung	lung
36	chr13:50509600-50511200	Active TSS	Stomach Mucosa	stomach
37	chr13:50509600-50511200	Active TSS	GM12878-XiMat	blood
38	chr13:50509600-50511400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr13:50509600-50511400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:50509600-50511400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr13:50509600-50511400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:50509600-50511400	Active TSS	Aorta	Aorta
43	chr13:50509600-50511400	Active TSS	Brain Cingulate Gyrus	brain
44	chr13:50509600-50511400	Active TSS	Esophagus	oesophagus
45	chr13:50509600-50511400	Active TSS	Left Ventricle	heart
46	chr13:50509600-50511400	Active TSS	Ovary	ovary
47	chr13:50509600-50511400	Active TSS	Pancreas	Pancrea
48	chr13:50509600-50511400	Active TSS	Placenta Amnion	Placenta Amnion
49	chr13:50509600-50511400	Active TSS	HepG2	liver
50	chr13:50509600-50511400	Active TSS	HSMM	muscle

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