Variant report

Variant	rs552724518
Chromosome Location	chr1:62084761-62084762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	esv3436036	chr1:62080864-62085662	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
10	esv3487874	chr1:62081664-62084862	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
11	nsv1007318	chr1:62083960-62113102	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62073200-62086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:62073200-62098800	Weak transcription	Right Atrium	heart
3	chr1:62079200-62086000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:62080400-62086000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:62080400-62086000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:62083800-62084800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:62084000-62084800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:62084000-62084800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:62084000-62084800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:62084200-62084800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:62084200-62085000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:62084200-62085000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:62084200-62085000	Enhancers	NHEK	skin
14	chr1:62084200-62085200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:62084400-62084800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:62084400-62084800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:62084400-62084800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:62084400-62084800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:62084400-62084800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:62084400-62084800	Enhancers	Esophagus	oesophagus
21	chr1:62084400-62085000	Enhancers	HMEC	breast
22	chr1:62084600-62084800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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