Variant report

Variant	rs562932059
Chromosome Location	chr1:228870224-228870225
allele	-/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	MXI1	chr1:228870038-228872688	SK-N-SH	brain:	n/a	n/a
2	FOS	chr1:228870122-228870322	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr1:228870064-228870543	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
RHOU	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription 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	14 gene(s)	inside rSNPs	diseases
4	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv468316	chr1:228854703-228919202	Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv549300	chr1:228854703-228919202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3405929	chr1:228869854-228872702	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 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	chr1:228859800-228870400	Weak transcription	Stomach Mucosa	stomach
2	chr1:228864000-228870600	Weak transcription	Placenta	Placenta
3	chr1:228868400-228870800	Weak transcription	Gastric	stomach
4	chr1:228869800-228871000	Enhancers	Fetal Brain Male	brain
5	chr1:228870000-228870400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:228870000-228870400	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr1:228870000-228870400	Enhancers	Fetal Lung	lung
8	chr1:228870000-228870400	Enhancers	Ovary	ovary
9	chr1:228870200-228870400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:228870200-228870400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:228870200-228870400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:228870200-228870400	Enhancers	Brain Anterior Caudate	brain
13	chr1:228870200-228870400	Enhancers	Brain Germinal Matrix	brain
14	chr1:228870200-228870400	Active TSS	Fetal Brain Female	brain
15	chr1:228870200-228870400	Enhancers	Fetal Intestine Small	intestine
16	chr1:228870200-228870400	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:228870200-228870400	Enhancers	A549	lung
18	chr1:228870200-228870400	Bivalent Enhancer	HepG2	liver
19	chr1:228870200-228870400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:228870200-228870600	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:228870200-228872000	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr1:228870200-228875400	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links