Variant report

Variant	rs16998483
Chromosome Location	chr20:52474126-52474127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52368902..52371159-chr20:52471406..52474415,3	K562	blood:
2	chr20:52471901..52491673-chr20:55835708..55845674,34	MCF-7	breast:
3	chr20:52209684..52212076-chr20:52472589..52474548,2	K562	blood:
4	chr17:57932184..57934585-chr20:52473101..52475297,2	MCF-7	breast:
5	chr20:52368202..52371256-chr20:52472915..52475847,3	K562	blood:

Variant related genes	Relation type
ENSG00000171940	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000226308	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv586222	chr20:52473679-52506380	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52453600-52480200	Weak transcription	Small Intestine	intestine
2	chr20:52456600-52476200	Weak transcription	Gastric	stomach
3	chr20:52464600-52474200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr20:52468800-52474400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr20:52468800-52474400	Weak transcription	Colonic Mucosa	Colon
6	chr20:52468800-52476200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr20:52468800-52481400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr20:52469000-52474200	Weak transcription	K562	blood
9	chr20:52469000-52474200	Weak transcription	NHEK	skin
10	chr20:52470000-52474200	Weak transcription	GM12878-XiMat	blood
11	chr20:52471600-52474800	Enhancers	Fetal Thymus	thymus
12	chr20:52471600-52475000	Enhancers	Primary T cells from cord blood	blood
13	chr20:52472000-52474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:52472000-52474800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr20:52472200-52474400	Enhancers	Primary hematopoietic stem cells	blood
16	chr20:52472200-52474800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr20:52472200-52474800	Enhancers	Thymus	Thymus
18	chr20:52472200-52476600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr20:52472400-52474200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:52472400-52474400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr20:52472400-52480800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr20:52472600-52474400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr20:52472600-52474600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr20:52473000-52474200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr20:52473000-52474200	Weak transcription	Dnd41	blood
26	chr20:52473000-52474400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr20:52473000-52474400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr20:52473000-52474400	Weak transcription	Fetal Muscle Leg	muscle
29	chr20:52473000-52474400	Weak transcription	Fetal Stomach	stomach
30	chr20:52473200-52474200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr20:52473200-52474200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr20:52473200-52474200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr20:52473200-52474400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr20:52473200-52480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr20:52473400-52474200	Enhancers	HepG2	liver
36	chr20:52473400-52476200	Weak transcription	Placenta	Placenta
37	chr20:52473400-52476200	Weak transcription	Spleen	Spleen
38	chr20:52473600-52474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr20:52473600-52475000	Enhancers	Fetal Lung	lung
40	chr20:52473600-52476400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr20:52474000-52474600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr20:52474000-52474600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr20:52474000-52474800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr20:52474000-52474800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr20:52474000-52474800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr20:52474000-52474800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr20:52474000-52474800	Enhancers	A549	lung
48	chr20:52474000-52475400	Enhancers	Fetal Intestine Large	intestine
49	chr20:52474000-52476600	Enhancers	Stomach Mucosa	stomach

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