Variant report

Variant	rs575775910
Chromosome Location	chr20:1383230-1383231
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	esv3454734	chr20:1380804-1384028	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3454733	chr20:1380917-1383913	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3454735	chr20:1380931-1383912	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv432095	chr20:1382500-1420340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1378600-1383600	Enhancers	Fetal Intestine Large	intestine
2	chr20:1378600-1384400	Enhancers	Fetal Intestine Small	intestine
3	chr20:1379600-1383400	Enhancers	HMEC	breast
4	chr20:1379600-1383800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:1380000-1384400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:1380400-1383400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:1380400-1383600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr20:1380400-1383600	Enhancers	Osteobl	bone
9	chr20:1380600-1383600	Enhancers	Liver	Liver
10	chr20:1380600-1383800	Enhancers	NHEK	skin
11	chr20:1380600-1388400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr20:1380800-1383600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr20:1381000-1383400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:1381200-1383400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr20:1381400-1383400	Enhancers	Colonic Mucosa	Colon
16	chr20:1381800-1383800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:1382400-1386000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr20:1382400-1388400	Weak transcription	Placenta	Placenta
19	chr20:1382600-1383400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr20:1382800-1383400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr20:1382800-1383600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr20:1382800-1383800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr20:1382800-1383800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr20:1382800-1383800	Enhancers	Dnd41	blood
25	chr20:1383000-1383400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr20:1383000-1383800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr20:1383200-1388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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