Variant report

Variant	rs7707680
Chromosome Location	chr5:112461123-112461124
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	EP300	chr5:112460765-112462145	SK-N-SH	brain:	n/a	chr5:112461052-112461062 chr5:112460979-112460993
2	EP300	chr5:112461080-112461491	SK-N-SH_RA	brain:	n/a	n/a
3	GATA2	chr5:112460972-112461462	SH-SY5Y	brain:	n/a	chr5:112461220-112461230 chr5:112461216-112461230 chr5:112461217-112461233 chr5:112461222-112461239 chr5:112461221-112461230 chr5:112461221-112461228 chr5:112461214-112461235
4	GATA2	chr5:112461091-112461588	HUVEC	blood vessel:	n/a	chr5:112461220-112461230 chr5:112461216-112461230 chr5:112461217-112461233 chr5:112461222-112461239 chr5:112461221-112461230 chr5:112461221-112461228 chr5:112461214-112461235
5	GATA3	chr5:112461036-112461449	SH-SY5Y	brain:	n/a	chr5:112461220-112461230 chr5:112461217-112461233 chr5:112461222-112461239 chr5:112461221-112461230 chr5:112461221-112461228 chr5:112461214-112461235
6	EP300	chr5:112461075-112461479	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112459886..112461931-chr5:112462862..112464863,2	MCF-7	breast:

Variant related genes	Relation type
MCC	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10056104	1.00[JPT][hapmap]
rs11958613	1.00[JPT][hapmap]
rs11958734	1.00[JPT][hapmap]
rs12108831	1.00[JPT][hapmap]
rs1443691	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1882620	1.00[JPT][hapmap]
rs2068922	1.00[JPT][hapmap]
rs57363557	1.00[ASN][1000 genomes]
rs9285877	1.00[JPT][hapmap]
rs9326882	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112431200-112461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
3	chr5:112453800-112461800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:112455000-112462200	Enhancers	Fetal Heart	heart
5	chr5:112455400-112461400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:112455400-112461400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:112456600-112467200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:112457400-112462000	Enhancers	Adipose Nuclei	Adipose
9	chr5:112458400-112474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:112458600-112474000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:112458600-112477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:112458800-112476600	Weak transcription	NHEK	skin
13	chr5:112459200-112461400	Enhancers	Right Ventricle	heart
14	chr5:112459200-112462000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:112459400-112461600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:112459400-112461600	Enhancers	Fetal Brain Female	brain
17	chr5:112459400-112468400	Weak transcription	NHDF-Ad	bronchial
18	chr5:112459600-112461800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:112459600-112462200	Enhancers	Liver	Liver
20	chr5:112459600-112462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:112459800-112462600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:112460000-112461200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr5:112460000-112461600	Enhancers	Fetal Lung	lung
24	chr5:112460000-112461800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:112460200-112461400	Enhancers	Left Ventricle	heart
26	chr5:112460200-112462000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:112460400-112461400	Enhancers	Ovary	ovary
28	chr5:112460600-112461400	Enhancers	Fetal Muscle Leg	muscle
29	chr5:112460600-112462400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:112460600-112462600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:112460600-112463600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:112460600-112465000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:112460800-112461800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:112460800-112462400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:112460800-112464600	Weak transcription	Psoas Muscle	Psoas
36	chr5:112460800-112466800	Weak transcription	Fetal Brain Male	brain
37	chr5:112460800-112467400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:112461000-112466600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links