Variant report

Variant	rs547387005
Chromosome Location	chr20:52509378-52509379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52507734..52509880-chr3:64127368..64129700,2	MCF-7	breast:
2	chr20:52508062..52510082-chr20:52513024..52514918,2	K562	blood:
3	chr20:52508084..52511476-chr20:55839330..55841787,4	MCF-7	breast:
4	chr20:52508732..52511577-chr20:55764444..55767184,2	MCF-7	breast:
5	chr20:52507107..52509480-chr8:90914201..90916208,2	MCF-7	breast:
6	chr20:52507216..52510163-chr20:55822269..55824456,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101144	Chromatin interaction
ENSG00000164823	Chromatin interaction

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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
4	esv1831516	chr20:52437245-52514913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
5	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
6	esv3440296	chr20:52508170-52510718	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52500600-52515600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:52501800-52509400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr20:52501800-52509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:52501800-52509400	Weak transcription	Thymus	Thymus
5	chr20:52501800-52509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr20:52502000-52509400	Weak transcription	Primary T cells from cord blood	blood
7	chr20:52502200-52509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:52502200-52509600	Weak transcription	NHEK	skin
9	chr20:52502600-52509400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr20:52502800-52509400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr20:52503000-52509400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr20:52503800-52509400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr20:52505400-52509400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr20:52505400-52509400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr20:52505800-52509400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr20:52505800-52509400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr20:52505800-52509400	Weak transcription	Fetal Thymus	thymus
18	chr20:52506800-52509800	Enhancers	NHLF	lung
19	chr20:52507200-52510400	Enhancers	NH-A	brain
20	chr20:52507400-52509400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr20:52507400-52509600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr20:52507400-52509600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr20:52507400-52509800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr20:52507400-52510200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr20:52507600-52509400	Enhancers	NHDF-Ad	bronchial
26	chr20:52507600-52509400	Weak transcription	Osteobl	bone
27	chr20:52507600-52509600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr20:52507800-52509400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr20:52507800-52509400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr20:52507800-52509400	Weak transcription	Spleen	Spleen
31	chr20:52507800-52509600	Enhancers	Primary B cells from cord blood	blood
32	chr20:52507800-52509600	Weak transcription	Fetal Intestine Large	intestine
33	chr20:52507800-52518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr20:52507800-52522800	Weak transcription	Placenta	Placenta
35	chr20:52508000-52509400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr20:52508000-52509400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr20:52508000-52512400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr20:52508200-52509400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr20:52508200-52509400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr20:52508200-52509600	Weak transcription	Fetal Lung	lung
41	chr20:52508400-52509400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr20:52508400-52509400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr20:52508400-52509600	Weak transcription	Adipose Nuclei	Adipose
44	chr20:52508400-52510200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr20:52508400-52510200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr20:52508400-52512000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr20:52508400-52512400	Enhancers	Primary B cells from peripheral blood	blood
48	chr20:52508600-52509400	Weak transcription	HMEC	breast
49	chr20:52508600-52509400	Enhancers	HSMM	muscle
50	chr20:52508600-52510200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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