Variant report

Variant	rs7700870
Chromosome Location	chr5:58656452-58656453
allele	A/G
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	SP1	chr5:58655806-58656741	A549	lung:	n/a	n/a
2	CEBPB	chr5:58655980-58656547	A549	lung:	n/a	chr5:58656328-58656341 chr5:58656201-58656214
3	SP1	chr5:58655875-58656466	A549	lung:	n/a	n/a
4	CEBPB	chr5:58655870-58656886	A549	lung:	n/a	chr5:58656328-58656341 chr5:58656201-58656214
5	CEBPB	chr5:58655968-58656493	A549	lung:	n/a	chr5:58656328-58656341 chr5:58656201-58656214
6	EP300	chr5:58655859-58656877	A549	lung:	n/a	n/a
7	EP300	chr5:58655808-58656709	A549	lung:	n/a	n/a
8	BCL3	chr5:58655859-58656666	A549	lung:	n/a	n/a
9	TCF12	chr5:58655615-58656700	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58651518..58653116-chr5:58654954..58657664,2	K562	blood:

Variant related genes	Relation type
PDE4D	TF binding region
ENSG00000113448	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10514864	1.00[CEU][hapmap]
rs10514865	1.00[CHB][hapmap]
rs12658429	1.00[CEU][hapmap]
rs13164719	0.85[ASN][1000 genomes]
rs1445947	1.00[CEU][hapmap]
rs1457110	1.00[CEU][hapmap]
rs154223	1.00[CEU][hapmap]
rs16889611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16889682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889696	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889743	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889796	1.00[CEU][hapmap]
rs16889846	1.00[CEU][hapmap]
rs17589745	1.00[CEU][hapmap]
rs27185	1.00[CEU][hapmap]
rs27532	1.00[CEU][hapmap]
rs56874033	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61021367	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450518	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6888644	1.00[CEU][hapmap]
rs6889851	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6895685	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898269	1.00[CEU][hapmap]
rs73092919	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73092930	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73092991	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73095430	1.00[EUR][1000 genomes]
rs7703702	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7733716	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7735133	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7736808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1022160	chr5:58645805-58689010	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv881704	chr5:58653383-58675538	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58652200-58656600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:58653000-58669400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:58653600-58657800	Enhancers	Fetal Heart	heart
4	chr5:58654000-58657200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:58654400-58667000	Weak transcription	Fetal Intestine Large	intestine
6	chr5:58654600-58657400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:58654600-58665400	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:58654800-58657000	Weak transcription	Gastric	stomach
9	chr5:58654800-58659400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:58654800-58665800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:58655000-58657000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:58655000-58657400	Weak transcription	Stomach Mucosa	stomach
13	chr5:58655000-58659200	Weak transcription	Fetal Intestine Small	intestine
14	chr5:58655000-58659600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:58655600-58657000	Flanking Active TSS	A549	lung
16	chr5:58656000-58656800	Enhancers	Fetal Kidney	kidney
17	chr5:58656200-58658000	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:58656200-58665400	Weak transcription	Psoas Muscle	Psoas
19	chr5:58656400-58656600	Enhancers	Rectal Smooth Muscle	rectum
20	chr5:58656400-58656800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:58656400-58658200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr5:58656400-58658600	Weak transcription	Fetal Lung	lung
23	chr5:58656400-58658600	Weak transcription	Left Ventricle	heart
24	chr5:58656400-58659400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:58656400-58659400	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links