Variant report

Variant	rs557918187
Chromosome Location	chr20:1378703-1378704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:1378580-1378730	HRE	kidney:	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	chr20:1378397-1378730	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr20:1378458-1378710	A549	lung:	n/a	n/a
6	TCF7L2	chr20:1378631-1378872	PANC-1	pancreas:	n/a	n/a
7	RAD21	chr20:1378500-1378708	A549	lung:	n/a	n/a
8	CTCF	chr20:1378388-1379091	K562	blood:	n/a	n/a
9	CTCF	chr20:1378326-1378877	HCT-116	colon:	n/a	n/a
10	RAD21	chr20:1378355-1378714	A549	lung:	n/a	n/a
11	CTCF	chr20:1378317-1378727	A549	lung:	n/a	n/a
12	RAD21	chr20:1378272-1378706	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr20:1378372-1378714	IMR90	lung:	n/a	n/a
14	CTCF	chr20:1377929-1378909	A549	lung:	n/a	n/a
15	RAD21	chr20:1378346-1378707	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr20:1378323-1378741	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr20:1378379-1379084	GM12878	blood:	n/a	n/a
18	RAD21	chr20:1378301-1378793	HepG2	liver:	n/a	n/a
19	RAD21	chr20:1378303-1378794	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:1372265..1374916-chr20:1377104..1379647,4	MCF-7	breast:
2	chr20:1293893..1294743-chr20:1378150..1379511,4	MCF-7	breast:
3	chr20:1293833..1294789-chr20:1378404..1378993,2	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:35 , 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	chr20:1374600-1378800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr20:1374600-1379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:1374600-1379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:1374600-1380000	Weak transcription	Liver	Liver
7	chr20:1374600-1380200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:1374800-1379400	Weak transcription	Colonic Mucosa	Colon
9	chr20:1374800-1382800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr20:1374800-1383000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr20:1375200-1379400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:1375400-1379000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr20:1376000-1379200	Enhancers	Dnd41	blood
14	chr20:1376200-1378800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr20:1377400-1379600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:1377600-1379400	Weak transcription	NHEK	skin
17	chr20:1377600-1379600	Weak transcription	HMEC	breast
18	chr20:1377600-1383000	Enhancers	HUVEC	blood vessel
19	chr20:1377800-1382800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr20:1377800-1382800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr20:1378000-1383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr20:1378400-1380000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr20:1378400-1380200	Enhancers	Primary B cells from cord blood	blood
26	chr20:1378400-1380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr20:1378600-1378800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr20:1378600-1378800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr20:1378600-1379200	Enhancers	Stomach Mucosa	stomach
30	chr20:1378600-1379200	Enhancers	K562	blood
31	chr20:1378600-1379600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
32	chr20:1378600-1379800	Enhancers	Fetal Kidney	kidney
33	chr20:1378600-1379800	Bivalent Enhancer	HepG2	liver
34	chr20:1378600-1383600	Enhancers	Fetal Intestine Large	intestine
35	chr20:1378600-1384400	Enhancers	Fetal Intestine Small	intestine

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