Variant report

Variant	rs201596264
Chromosome Location	chr13:50510225-50510226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	POLR2A	chr13:50510191-50510645	Hela-S3	cervix:	n/a	n/a
3	PAX5	chr13:50510184-50511022	GM12878	blood:	n/a	chr13:50510638-50510657
4	POLR2A	chr13:50510209-50510859	HCT-116	colon:	n/a	n/a
5	ZNF143	chr13:50509887-50510744	Hela-S3	cervix:	n/a	chr13:50510160-50510170
6	RCOR1	chr13:50509909-50510883	HepG2	liver:	n/a	n/a
7	MYC	chr13:50509928-50510800	MCF-7	breast:	n/a	chr13:50510651-50510661
8	POLR2A	chr13:50509854-50510823	GM12878	blood:	n/a	n/a
9	MAX	chr13:50509736-50511178	SK-N-SH	brain:	n/a	chr13:50511019-50511028 chr13:50511016-50511027 chr13:50510651-50510661
10	POLR2A	chr13:50509769-50511260	GM12892	blood:	n/a	n/a
11	CTCF	chr13:50510203-50510678	HepG2	liver:	n/a	n/a
12	HDAC2	chr13:50509772-50510917	HepG2	liver:	n/a	n/a
13	POLR2A	chr13:50510202-50510918	HepG2	liver:	n/a	n/a
14	HCFC1	chr13:50509342-50511153	Hela-S3	cervix:	n/a	n/a
15	KAP1	chr13:50510089-50510933	HEK293	kidney:	n/a	n/a
16	MXI1	chr13:50509251-50511503	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr13:50509686-50511055	U87	brain:	n/a	n/a
18	POLR2A	chr13:50509848-50511344	MCF-7	breast:	n/a	n/a
19	POLR2A	chr13:50510200-50511130	GM12892	blood:	n/a	n/a
20	ZBTB7A	chr13:50509867-50510839	K562	blood:	n/a	n/a
21	POLR2A	chr13:50510144-50511035	GM12891	blood:	n/a	n/a
22	CTCF	chr13:50510198-50510737	MCF-7	breast:	n/a	n/a
23	SIN3AK20	chr13:50509830-50510965	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr13:50510185-50510795	GM12891	blood:	n/a	n/a
25	POLR2A	chr13:50509959-50510710	HepG2	liver:	n/a	n/a
26	REST	chr13:50510191-50510631	A549	lung:	n/a	n/a
27	BHLHE40	chr13:50509964-50511018	HepG2	liver:	n/a	n/a
28	ELF1	chr13:50509822-50511477	GM12878	blood:	n/a	chr13:50510642-50510651
29	HCFC1	chr13:50510070-50510899	K562	blood:	n/a	n/a
30	SIN3AK20	chr13:50510209-50510602	HepG2	liver:	n/a	n/a
31	POLR2A	chr13:50509622-50511072	K562	blood:	n/a	n/a
32	RAD21	chr13:50510192-50510682	HepG2	liver:	n/a	n/a
33	POLR2A	chr13:50509838-50511315	GM19193	blood:	n/a	n/a
34	CTCF	chr13:50510093-50510745	HCT-116	colon:	n/a	n/a
35	MAX	chr13:50509829-50511410	ECC-1	luminal epithelium:	n/a	chr13:50511019-50511028 chr13:50511016-50511027 chr13:50510651-50510661
36	ZMIZ1	chr13:50509655-50510766	K562	blood:	n/a	n/a
37	SP1	chr13:50510198-50510838	A549	lung:	n/a	chr13:50510656-50510668 chr13:50510656-50510668 chr13:50510657-50510667 chr13:50510645-50510655 chr13:50510657-50510667
38	POLR2A	chr13:50510026-50510785	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr13:50510204-50510641	K562	blood:	n/a	n/a
40	POLR2A	chr13:50509821-50510979	K562	blood:	n/a	n/a
41	CCNT2	chr13:50509871-50511160	K562	blood:	n/a	n/a
42	TAF1	chr13:50509693-50511193	ECC-1	luminal epithelium:	n/a	n/a
43	CTCF	chr13:50509622-50511370	SK-N-SH	brain:	n/a	n/a
44	FOSL2	chr13:50510220-50510695	HepG2	liver:	n/a	n/a
45	MAX	chr13:50509792-50510958	Hela-S3	cervix:	n/a	chr13:50510651-50510661
46	POLR2A	chr13:50509820-50510828	PFSK-1	brain:	n/a	n/a
47	MAX	chr13:50509845-50510919	H1-hESC	embryonic stem cell:	n/a	chr13:50510651-50510661
48	MYC	chr13:50510223-50510269	K562	blood:	n/a	n/a
49	MAX	chr13:50509797-50511198	K562	blood:	n/a	chr13:50511019-50511028 chr13:50511016-50511027 chr13:50510651-50510661
50	POLR2A	chr13:50510200-50510961	GM12892	blood:	n/a	n/a

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	chr13:50507293..50510312-chr13:50568081..50571220,3	MCF-7	breast:

Variant related genes	Relation type
SPRYD7	TF binding region
ENSG00000204977	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000102753	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	chr13:50508800-50510400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:50508800-50511400	Active TSS	Right Atrium	heart
3	chr13:50509000-50510800	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr13:50509000-50511400	Active TSS	A549	lung
5	chr13:50509000-50511400	Active TSS	K562	blood
6	chr13:50509000-50511600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:50509000-50511600	Active TSS	HMEC	breast
8	chr13:50509000-50511800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:50509200-50511400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:50509400-50511000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr13:50509400-50511200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:50509400-50511200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr13:50509400-50511200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:50509400-50511200	Active TSS	Brain Hippocampus Middle	brain
15	chr13:50509400-50511200	Active TSS	Psoas Muscle	Psoas
16	chr13:50509400-50511400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr13:50509400-50511400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr13:50509400-50511400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr13:50509400-50511400	Active TSS	Fetal Intestine Large	intestine
20	chr13:50509400-50511400	Active TSS	HSMMtube	muscle
21	chr13:50509400-50511600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:50509400-50511600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr13:50509400-50511600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:50509400-50511600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:50509400-50511600	Active TSS	NHLF	lung
26	chr13:50509600-50510400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr13:50509600-50510400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr13:50509600-50510400	Flanking Active TSS	Dnd41	blood
29	chr13:50509600-50511000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr13:50509600-50511000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr13:50509600-50511000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:50509600-50511000	Active TSS	Fetal Muscle Trunk	muscle
33	chr13:50509600-50511000	Active TSS	Placenta	Placenta
34	chr13:50509600-50511000	Active TSS	Hela-S3	cervix
35	chr13:50509600-50511200	Active TSS	Muscle Satellite Cultured Cells	--
36	chr13:50509600-50511200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:50509600-50511200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr13:50509600-50511200	Active TSS	Fetal Lung	lung
39	chr13:50509600-50511200	Active TSS	Lung	lung
40	chr13:50509600-50511200	Active TSS	Stomach Mucosa	stomach
41	chr13:50509600-50511200	Active TSS	GM12878-XiMat	blood
42	chr13:50509600-50511400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:50509600-50511400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:50509600-50511400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr13:50509600-50511400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:50509600-50511400	Active TSS	Aorta	Aorta
47	chr13:50509600-50511400	Active TSS	Brain Cingulate Gyrus	brain
48	chr13:50509600-50511400	Active TSS	Esophagus	oesophagus
49	chr13:50509600-50511400	Active TSS	Left Ventricle	heart
50	chr13:50509600-50511400	Active TSS	Ovary	ovary

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