Variant report

Variant	rs80120042
Chromosome Location	chr20:1379422-1379423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Variant related genes	Relation type
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:42 , 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	chr20:1374600-1380000	Weak transcription	Liver	Liver
4	chr20:1374600-1380200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:1374800-1382800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr20:1374800-1383000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr20:1377400-1379600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:1377600-1379600	Weak transcription	HMEC	breast
9	chr20:1377600-1383000	Enhancers	HUVEC	blood vessel
10	chr20:1377800-1382800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr20:1377800-1382800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr20:1378000-1383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr20:1378400-1380000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr20:1378400-1380200	Enhancers	Primary B cells from cord blood	blood
17	chr20:1378400-1380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr20:1378600-1379600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
19	chr20:1378600-1379800	Enhancers	Fetal Kidney	kidney
20	chr20:1378600-1379800	Bivalent Enhancer	HepG2	liver
21	chr20:1378600-1383600	Enhancers	Fetal Intestine Large	intestine
22	chr20:1378600-1384400	Enhancers	Fetal Intestine Small	intestine
23	chr20:1378800-1379800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr20:1378800-1379800	Enhancers	Primary B cells from peripheral blood	blood
25	chr20:1378800-1383200	Enhancers	Duodenum Mucosa	Duodenum
26	chr20:1379000-1379600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:1379000-1379600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr20:1379000-1379800	Enhancers	GM12878-XiMat	blood
29	chr20:1379000-1380600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr20:1379000-1380600	Enhancers	Small Intestine	intestine
31	chr20:1379000-1382000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr20:1379200-1380200	Weak transcription	Stomach Mucosa	stomach
33	chr20:1379200-1380400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr20:1379200-1382800	Weak transcription	Dnd41	blood
35	chr20:1379400-1379600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr20:1379400-1379600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr20:1379400-1379600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr20:1379400-1379800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:1379400-1380000	Enhancers	NHEK	skin
40	chr20:1379400-1380400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr20:1379400-1380400	Enhancers	Colonic Mucosa	Colon
42	chr20:1379400-1380800	Enhancers	Placenta	Placenta

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