Variant report

Variant	rs35282
Chromosome Location	chr5:58655850-58655851
allele	G/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	SP1	chr5:58655806-58656741	A549	lung:	n/a	n/a
2	EP300	chr5:58655808-58656709	A549	lung:	n/a	n/a
3	MYC	chr5:58655834-58656381	NB4	blood:	n/a	n/a
4	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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12517657	0.82[EUR][1000 genomes]
rs151802	0.83[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs154025	0.81[ASN][1000 genomes]
rs154027	1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.81[TSI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154028	0.95[CHB][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs185333	0.95[CHB][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs244584	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs244585	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35255	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs35259	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs35260	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs35262	0.95[CHB][hapmap]
rs35264	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35265	0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35266	0.95[EUR][1000 genomes]
rs35275	0.83[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35280	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35281	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[ASN][1000 genomes]
rs35285	1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[ASN][1000 genomes]
rs35286	0.95[CHB][hapmap]
rs35287	0.95[CHB][hapmap];0.86[CHD][hapmap]
rs40125	0.96[EUR][1000 genomes]
rs441683	0.92[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58652200-58656200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:58652200-58656600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:58652400-58656400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:58652800-58656400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:58653000-58669400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:58653200-58656000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:58653600-58657800	Enhancers	Fetal Heart	heart
8	chr5:58654000-58657200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr5:58654200-58656000	Weak transcription	Brain Angular Gyrus	brain
10	chr5:58654400-58656200	Enhancers	Colon Smooth Muscle	Colon
11	chr5:58654400-58667000	Weak transcription	Fetal Intestine Large	intestine
12	chr5:58654600-58656000	Weak transcription	Left Ventricle	heart
13	chr5:58654600-58656000	Enhancers	Rectal Smooth Muscle	rectum
14	chr5:58654600-58656400	Enhancers	Fetal Lung	lung
15	chr5:58654600-58657400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:58654600-58665400	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:58654800-58656000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:58654800-58657000	Weak transcription	Gastric	stomach
19	chr5:58654800-58659400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:58654800-58665800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:58655000-58656000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:58655000-58656200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:58655000-58657000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:58655000-58657400	Weak transcription	Stomach Mucosa	stomach
25	chr5:58655000-58659200	Weak transcription	Fetal Intestine Small	intestine
26	chr5:58655000-58659600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:58655200-58656000	Weak transcription	Fetal Kidney	kidney
28	chr5:58655600-58656000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr5:58655600-58656000	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr5:58655600-58656200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:58655600-58656200	Enhancers	Brain Cingulate Gyrus	brain
32	chr5:58655600-58656200	Enhancers	Fetal Stomach	stomach
33	chr5:58655600-58656200	Enhancers	Psoas Muscle	Psoas
34	chr5:58655600-58656400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:58655600-58657000	Flanking Active TSS	A549	lung
36	chr5:58655800-58656000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:58655800-58656000	Enhancers	Fetal Brain Male	brain
38	chr5:58655800-58656200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:58655800-58656400	Active TSS	Right Atrium	heart

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