Variant report

Variant	rs571018086
Chromosome Location	chr13:50510033-50510034
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	ZNF143	chr13:50509887-50510744	Hela-S3	cervix:	n/a	chr13:50510160-50510170
2	RCOR1	chr13:50509909-50510883	HepG2	liver:	n/a	n/a
3	MYC	chr13:50509928-50510800	MCF-7	breast:	n/a	chr13:50510651-50510661
4	POLR2A	chr13:50509854-50510823	GM12878	blood:	n/a	n/a
5	MAX	chr13:50509736-50511178	SK-N-SH	brain:	n/a	chr13:50511019-50511028 chr13:50511016-50511027 chr13:50510651-50510661
6	CTCF	chr13:50509980-50510130	AG04450	lung:	n/a	n/a
7	POLR2A	chr13:50509769-50511260	GM12892	blood:	n/a	n/a
8	HDAC2	chr13:50509772-50510917	HepG2	liver:	n/a	n/a
9	HCFC1	chr13:50509342-50511153	Hela-S3	cervix:	n/a	n/a
10	SIN3AK20	chr13:50509879-50510104	A549	lung:	n/a	n/a
11	MXI1	chr13:50509251-50511503	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr13:50509940-50510090	GM12867	blood:	n/a	n/a
13	POLR2A	chr13:50509686-50511055	U87	brain:	n/a	n/a
14	POLR2A	chr13:50509848-50511344	MCF-7	breast:	n/a	n/a
15	ZBTB7A	chr13:50509867-50510839	K562	blood:	n/a	n/a
16	SIN3AK20	chr13:50509830-50510965	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr13:50509959-50510710	HepG2	liver:	n/a	n/a
18	EGR1	chr13:50509862-50510064	GM12878	blood:	n/a	chr13:50509963-50509976 chr13:50509963-50509976 chr13:50509960-50509974 chr13:50509962-50509977
19	BHLHE40	chr13:50509964-50511018	HepG2	liver:	n/a	n/a
20	ELF1	chr13:50509822-50511477	GM12878	blood:	n/a	chr13:50510642-50510651
21	YY1	chr13:50509856-50510187	SK-N-SH_RA	brain:	n/a	n/a
22	POLR2A	chr13:50509622-50511072	K562	blood:	n/a	n/a
23	POLR2A	chr13:50509647-50510187	U87	brain:	n/a	n/a
24	POLR2A	chr13:50509838-50511315	GM19193	blood:	n/a	n/a
25	CHD2	chr13:50509951-50510063	GM12878	blood:	n/a	chr13:50509968-50509978
26	MAX	chr13:50509829-50511410	ECC-1	luminal epithelium:	n/a	chr13:50511019-50511028 chr13:50511016-50511027 chr13:50510651-50510661
27	ZMIZ1	chr13:50509655-50510766	K562	blood:	n/a	n/a
28	POLR2A	chr13:50510026-50510785	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr13:50509821-50510979	K562	blood:	n/a	n/a
30	TBL1XR1	chr13:50509981-50510081	K562	blood:	n/a	n/a
31	CCNT2	chr13:50509871-50511160	K562	blood:	n/a	n/a
32	TAF1	chr13:50509693-50511193	ECC-1	luminal epithelium:	n/a	n/a
33	YY1	chr13:50509887-50510177	K562	blood:	n/a	n/a
34	CTCF	chr13:50509622-50511370	SK-N-SH	brain:	n/a	n/a
35	MAX	chr13:50509792-50510958	Hela-S3	cervix:	n/a	chr13:50510651-50510661
36	POLR2A	chr13:50509820-50510828	PFSK-1	brain:	n/a	n/a
37	MAX	chr13:50509845-50510919	H1-hESC	embryonic stem cell:	n/a	chr13:50510651-50510661
38	SIN3AK20	chr13:50509899-50510096	HepG2	liver:	n/a	n/a
39	MAX	chr13:50509797-50511198	K562	blood:	n/a	chr13:50511019-50511028 chr13:50511016-50511027 chr13:50510651-50510661
40	ZNF143	chr13:50509966-50510910	H1-hESC	embryonic stem cell:	n/a	chr13:50510160-50510170
41	SIN3A	chr13:50509764-50511413	H1-hESC	embryonic stem cell:	n/a	chr13:50510961-50510974 chr13:50511018-50511027
42	CTCF	chr13:50509900-50510050	GM12872	blood:	n/a	n/a
43	POLR2A	chr13:50509854-50511314	HL-60	blood:	n/a	n/a
44	RAD21	chr13:50509891-50510712	Hela-S3	cervix:	n/a	n/a
45	SMARCB1	chr13:50509828-50511294	Hela-S3	cervix:	n/a	n/a
46	CREB1	chr13:50509808-50510148	A549	lung:	n/a	n/a
47	TAF1	chr13:50509896-50510855	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr13:50509879-50510959	NB4	blood:	n/a	n/a
49	YY1	chr13:50509894-50510651	SK-N-SH_RA	brain:	n/a	n/a
50	POLR2A	chr13:50509296-50511100	MCF10A-Er-Src	breast:	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	chr13:50507293..50510312-chr13:50568081..50571220,3	MCF-7	breast:

Variant related genes	Relation type
SPRYD7	TF binding region
ENSG00000173812	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000102753	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	chr13:50509200-50510200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:50509200-50511400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:50509400-50510200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr13:50509400-50511000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr13:50509400-50511200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:50509400-50511200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr13:50509400-50511200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:50509400-50511200	Active TSS	Brain Hippocampus Middle	brain
17	chr13:50509400-50511200	Active TSS	Psoas Muscle	Psoas
18	chr13:50509400-50511400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr13:50509400-50511400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr13:50509400-50511400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr13:50509400-50511400	Active TSS	Fetal Intestine Large	intestine
22	chr13:50509400-50511400	Active TSS	HSMMtube	muscle
23	chr13:50509400-50511600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:50509400-50511600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr13:50509400-50511600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:50509400-50511600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr13:50509400-50511600	Active TSS	NHLF	lung
28	chr13:50509600-50510200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr13:50509600-50510200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
30	chr13:50509600-50510400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr13:50509600-50510400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr13:50509600-50510400	Flanking Active TSS	Dnd41	blood
33	chr13:50509600-50511000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr13:50509600-50511000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr13:50509600-50511000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:50509600-50511000	Active TSS	Fetal Muscle Trunk	muscle
37	chr13:50509600-50511000	Active TSS	Placenta	Placenta
38	chr13:50509600-50511000	Active TSS	Hela-S3	cervix
39	chr13:50509600-50511200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr13:50509600-50511200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:50509600-50511200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr13:50509600-50511200	Active TSS	Fetal Lung	lung
43	chr13:50509600-50511200	Active TSS	Lung	lung
44	chr13:50509600-50511200	Active TSS	Stomach Mucosa	stomach
45	chr13:50509600-50511200	Active TSS	GM12878-XiMat	blood
46	chr13:50509600-50511400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr13:50509600-50511400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:50509600-50511400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr13:50509600-50511400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr13:50509600-50511400	Active TSS	Aorta	Aorta

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