Variant report

Variant	rs2715608
Chromosome Location	chr3:133550978-133550979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133550179..133552609-chr3:133557640..133560195,2	MCF-7	breast:
2	chr3:133550727..133553493-chr3:133584002..133586753,2	K562	blood:
3	chr3:133540918..133542812-chr3:133549645..133551842,2	MCF-7	breast:
4	chr3:133544073..133548736-chr3:133549293..133553405,5	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1043147	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11710936	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12637730	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16840994	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16841004	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2249322	0.83[CEU][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2293373	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2293374	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2293375	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs2692667	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692668	0.82[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2692670	0.84[CEU][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2692671	0.81[ASN][1000 genomes]
rs2715607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2715609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3811659	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7626433	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2715608	SRPRB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133539400-133572200	Weak transcription	Fetal Brain Male	brain
2	chr3:133541000-133551000	Weak transcription	Brain Angular Gyrus	brain
3	chr3:133541400-133558200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:133541400-133559600	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:133542000-133555400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:133542000-133563600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:133542600-133557800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:133542800-133569000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:133543000-133553600	Weak transcription	Fetal Lung	lung
10	chr3:133543400-133560600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:133543800-133552400	Weak transcription	Placenta	Placenta
12	chr3:133543800-133554000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:133543800-133560000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:133544000-133556600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:133544200-133551600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:133544200-133551600	Weak transcription	Aorta	Aorta
17	chr3:133544200-133557600	Weak transcription	Adipose Nuclei	Adipose
18	chr3:133544400-133559800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr3:133544600-133562200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:133544600-133573200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:133544600-133584200	Weak transcription	Esophagus	oesophagus
22	chr3:133545000-133582800	Weak transcription	Gastric	stomach
23	chr3:133545200-133552400	Weak transcription	Spleen	Spleen
24	chr3:133545200-133553400	Weak transcription	Pancreas	Pancrea
25	chr3:133545200-133557600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:133545600-133552600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:133545600-133552600	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:133546000-133552000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:133546200-133551600	Weak transcription	Fetal Stomach	stomach
30	chr3:133546200-133557400	Weak transcription	Fetal Intestine Small	intestine
31	chr3:133548000-133559600	Weak transcription	Lung	lung
32	chr3:133548000-133563400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:133548000-133564400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:133548200-133560600	Strong transcription	Brain Germinal Matrix	brain
35	chr3:133549000-133560000	Strong transcription	Brain Anterior Caudate	brain
36	chr3:133549200-133561200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:133549200-133562400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:133549800-133553000	Weak transcription	Left Ventricle	heart
39	chr3:133549800-133553200	Weak transcription	Right Ventricle	heart
40	chr3:133549800-133560400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:133550000-133558200	Weak transcription	Fetal Heart	heart
42	chr3:133550000-133562200	Weak transcription	Right Atrium	heart
43	chr3:133550200-133560400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:133550400-133560200	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr3:133550400-133560800	Strong transcription	Fetal Brain Female	brain
46	chr3:133550600-133551000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:133550600-133553400	Strong transcription	Brain Hippocampus Middle	brain
48	chr3:133550600-133554200	Strong transcription	Brain Substantia Nigra	brain
49	chr3:133550800-133559200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr3:133550800-133560000	Strong transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links