Variant report

Variant	rs551036599
Chromosome Location	chr20:1378393-1378394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr20:1378368-1378592	GM12878	blood:	n/a	n/a
2	RAD21	chr20:1378383-1378766	ECC-1	luminal epithelium:	n/a	n/a
3	CTCF	chr20:1378377-1378711	K562	blood:	n/a	n/a
4	CTCF	chr20:1378367-1378680	K562	blood:	n/a	n/a
5	RAD21	chr20:1378318-1378632	HepG2	liver:	n/a	n/a
6	CTCF	chr20:1378340-1378490	A549	lung:	n/a	n/a
7	CTCF	chr20:1378300-1378450	Caco-2	colon:	n/a	n/a
8	CTCF	chr20:1378300-1378450	HCM	heart:	n/a	n/a
9	RAD21	chr20:1378390-1378695	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr20:1378380-1378670	WI-38	lung:	n/a	n/a
11	CTCF	chr20:1378380-1378530	HVMF	connective:	n/a	n/a
12	CTCF	chr20:1378380-1378530	HCT-116	colon:	n/a	n/a
13	CTCF	chr20:1378388-1379091	K562	blood:	n/a	n/a
14	CTCF	chr20:1378326-1378877	HCT-116	colon:	n/a	n/a
15	RAD21	chr20:1378359-1378702	IMR90	lung:	n/a	n/a
16	RAD21	chr20:1378355-1378714	A549	lung:	n/a	n/a
17	CTCF	chr20:1378384-1378654	A549	lung:	n/a	n/a
18	CTCF	chr20:1378317-1378727	A549	lung:	n/a	n/a
19	RAD21	chr20:1378272-1378706	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr20:1378372-1378714	IMR90	lung:	n/a	n/a
21	CTCF	chr20:1377929-1378909	A549	lung:	n/a	n/a
22	CTCF	chr20:1378362-1378696	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr20:1378346-1378707	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr20:1378378-1378676	K562	blood:	n/a	n/a
25	RAD21	chr20:1378323-1378741	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr20:1378349-1378658	HepG2	liver:	n/a	n/a
27	CTCF	chr20:1378360-1378510	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr20:1378379-1379084	GM12878	blood:	n/a	n/a
29	RAD21	chr20:1378301-1378793	HepG2	liver:	n/a	n/a
30	CTCF	chr20:1378380-1378530	BJ	skin:	n/a	n/a
31	CTCF	chr20:1378340-1378490	RPTEC	kidney:	n/a	n/a
32	RAD21	chr20:1378363-1378627	GM12878	blood:	n/a	n/a
33	RAD21	chr20:1378303-1378794	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1372265..1374916-chr20:1377104..1379647,4	MCF-7	breast:
2	chr20:1293893..1294743-chr20:1378150..1379511,4	MCF-7	breast:

No data

Variant related genes	Relation type
FKBP1A	TF binding region
ENSG00000125775	Chromatin interaction
ENSG00000088832	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3400839	chr20:1377767-1383335	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1374400-1379600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:1374400-1381400	Weak transcription	Gastric	stomach
3	chr20:1374600-1378600	Weak transcription	K562	blood
4	chr20:1374600-1378800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr20:1374600-1379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:1374600-1379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr20:1374600-1380000	Weak transcription	Liver	Liver
8	chr20:1374600-1380200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr20:1374800-1379400	Weak transcription	Colonic Mucosa	Colon
10	chr20:1374800-1382800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr20:1374800-1383000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr20:1375200-1379400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:1375400-1379000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr20:1376000-1379200	Enhancers	Dnd41	blood
15	chr20:1376200-1378800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr20:1377400-1379600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:1377600-1379400	Weak transcription	NHEK	skin
18	chr20:1377600-1379600	Weak transcription	HMEC	breast
19	chr20:1377600-1383000	Enhancers	HUVEC	blood vessel
20	chr20:1377800-1382800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr20:1377800-1382800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr20:1378000-1383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr20:1378200-1378400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links