Variant report

Variant	rs202220511
Chromosome Location	chr20:1377787-1377788
allele	-/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	GATA3	chr20:1377369-1377821	SH-SY5Y	brain:	n/a	n/a
2	PBX3	chr20:1377371-1377828	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr20:1377315-1377814	SH-SY5Y	brain:	n/a	n/a
4	HA-E2F1	chr20:1377277-1377877	MCF-7	breast:	n/a	n/a
5	GATA2	chr20:1376926-1377938	HUVEC	blood vessel:	n/a	n/a
6	PBX3	chr20:1377408-1377804	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr20:1376739-1377893	HUVEC	blood vessel:	n/a	n/a
8	GATA3	chr20:1377146-1377793	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr20:1376863-1377958	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr20:1376818-1377829	SK-N-SH	brain:	n/a	n/a
11	MAX	chr20:1377747-1378064	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1311170..1313178-chr20:1375067..1377982,2	MCF-7	breast:
2	chr20:1372265..1374916-chr20:1377104..1379647,4	MCF-7	breast:

Variant related genes	Relation type
FKBP1A	TF binding region
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:28 , 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	chr20:1374600-1378000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr20:1374600-1378600	Weak transcription	K562	blood
5	chr20:1374600-1378800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr20:1374600-1379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:1374600-1379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:1374600-1380000	Weak transcription	Liver	Liver
9	chr20:1374600-1380200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr20:1374800-1379400	Weak transcription	Colonic Mucosa	Colon
11	chr20:1374800-1382800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr20:1374800-1383000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr20:1375200-1379400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:1375400-1379000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr20:1376000-1379200	Enhancers	Dnd41	blood
16	chr20:1376200-1378800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr20:1376600-1377800	Weak transcription	Lung	lung
18	chr20:1377000-1377800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr20:1377000-1377800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr20:1377000-1378000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr20:1377400-1377800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr20:1377400-1378000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr20:1377400-1378000	Enhancers	Fetal Thymus	thymus
24	chr20:1377400-1378200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr20:1377400-1379600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:1377600-1379400	Weak transcription	NHEK	skin
27	chr20:1377600-1379600	Weak transcription	HMEC	breast
28	chr20:1377600-1383000	Enhancers	HUVEC	blood vessel

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