Variant report

Variant	rs560100054
Chromosome Location	chr20:52334596-52334597
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv1813335	chr20:52331815-52335833	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv1813816	chr20:52331815-52335833	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv12635	chr20:52331839-52337078	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3440215	chr20:52331861-52336698	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	esv3369417	chr20:52332945-52337843	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv3359850	chr20:52333245-52337443	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv1804249	chr20:52333788-52335833	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52325200-52334600	Weak transcription	Fetal Muscle Leg	muscle
2	chr20:52330400-52341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:52330800-52337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr20:52331200-52340600	Weak transcription	Placenta	Placenta
5	chr20:52331200-52352600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:52331800-52336200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr20:52332200-52340400	Weak transcription	HepG2	liver
8	chr20:52332400-52335400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr20:52332400-52335600	Weak transcription	GM12878-XiMat	blood
10	chr20:52333200-52334800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr20:52333400-52334800	Weak transcription	Primary B cells from cord blood	blood
12	chr20:52333600-52337400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr20:52334200-52334600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr20:52334200-52335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr20:52334200-52335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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