Variant report

Variant	rs199888951
Chromosome Location	chr20:52310574-52310575
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:52309398..52311832-chr20:52327074..52329815,2	K562	blood:
2	chr2:11670272..11672993-chr20:52308680..52310728,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
4	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
5	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	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
8	nsv518277	chr20:52276452-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv437185	chr20:52300359-52330053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv517748	chr20:52304108-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv437186	chr20:52309454-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52305600-52311200	Weak transcription	Stomach Mucosa	stomach
2	chr20:52309200-52310600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:52309400-52316000	Weak transcription	HepG2	liver
4	chr20:52309400-52324800	Weak transcription	Spleen	Spleen
5	chr20:52309600-52316000	Weak transcription	Adipose Nuclei	Adipose
6	chr20:52310000-52314600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr20:52310200-52310600	Enhancers	Dnd41	blood
8	chr20:52310200-52311200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr20:52310200-52311400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr20:52310200-52311400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr20:52310200-52313400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr20:52310200-52314600	Weak transcription	GM12878-XiMat	blood
13	chr20:52310200-52314800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr20:52310200-52316200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr20:52310200-52322000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr20:52310400-52311400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr20:52310400-52311800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr20:52310400-52312400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr20:52310400-52313000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr20:52310400-52314800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:52310400-52316000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr20:52310400-52316400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr20:52310400-52317200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr20:52310400-52317400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr20:52310400-52317400	Weak transcription	Fetal Thymus	thymus

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