Variant report

Variant	rs558374653
Chromosome Location	chr7:50934325-50934326
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:50934056-50934477	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000228204	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv524131	chr7:50933370-50961303	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv527462	chr7:50933370-50989383	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv888022	chr7:50933678-51046674	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:50926200-50934600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:50926200-50935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:50927000-50935600	Weak transcription	Pancreas	Pancrea
4	chr7:50930400-50934600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:50932200-50934400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:50932400-50935000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:50933200-50934400	Weak transcription	Left Ventricle	heart
8	chr7:50933200-50936400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:50933400-50936400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:50933400-50936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:50933600-50937600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:50933600-50937800	Enhancers	Fetal Heart	heart
13	chr7:50933800-50936000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:50934000-50934400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:50934000-50935600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:50934200-50934400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:50934200-50934400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:50934200-50934800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:50934200-50934800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:50934200-50935000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:50934200-50935000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:50934200-50935000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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