Variant report

Variant	rs558671974
Chromosome Location	chr20:52464928-52464929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52464155..52466021-chr6:26123311..26126264,2	MCF-7	breast:
2	chr20:52446291..52448679-chr20:52463374..52466298,2	K562	blood:
3	chr20:52464485..52466366-chr20:52684074..52686854,2	MCF-7	breast:
4	chr20:52455663..52458624-chr20:52464778..52466415,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSHZ2-4	chr20:52464362-52465029	NONHSAT080405

Variant related genes	Relation type
ENSG00000180596	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000265595	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	nsv1060372	chr20:52409008-52502100	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	122 gene(s)	inside rSNPs	diseases
5	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
6	esv18025	chr20:52464720-52486135	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52450400-52465200	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr20:52450600-52465200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr20:52452400-52465200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr20:52453600-52480200	Weak transcription	Small Intestine	intestine
5	chr20:52456600-52468400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:52456600-52476200	Weak transcription	Gastric	stomach
7	chr20:52458400-52466200	Enhancers	Fetal Thymus	thymus
8	chr20:52458800-52465200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr20:52459000-52466600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr20:52459400-52465200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr20:52459600-52468400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr20:52459600-52472600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr20:52462400-52465000	Enhancers	HepG2	liver
14	chr20:52462800-52468200	Weak transcription	Osteobl	bone
15	chr20:52463000-52468400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr20:52463000-52474000	Weak transcription	A549	lung
17	chr20:52463200-52465200	Enhancers	Primary hematopoietic stem cells	blood
18	chr20:52463200-52465200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr20:52463200-52465200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr20:52463400-52465000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr20:52463600-52465000	Enhancers	Brain Substantia Nigra	brain
22	chr20:52463600-52465000	Flanking Active TSS	GM12878-XiMat	blood
23	chr20:52464200-52465200	Enhancers	K562	blood
24	chr20:52464200-52465600	Enhancers	Thymus	Thymus
25	chr20:52464200-52468600	Weak transcription	NHEK	skin
26	chr20:52464400-52465200	Enhancers	Primary T cells from cord blood	blood
27	chr20:52464400-52465200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr20:52464400-52465200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr20:52464400-52465200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr20:52464400-52465200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr20:52464400-52465200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr20:52464400-52465200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr20:52464400-52465400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr20:52464400-52465400	Enhancers	Dnd41	blood
35	chr20:52464400-52466400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr20:52464400-52467600	Enhancers	Primary B cells from peripheral blood	blood
37	chr20:52464400-52468000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr20:52464400-52472400	Weak transcription	Fetal Stomach	stomach
39	chr20:52464600-52467200	Enhancers	Primary B cells from cord blood	blood
40	chr20:52464600-52472800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr20:52464600-52474200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr20:52464800-52465200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr20:52464800-52467400	Enhancers	Primary neutrophils fromperipheralblood	blood

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