Variant report

Variant	rs13186334
Chromosome Location	chr5:112350707-112350708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112349384..112350972-chr5:112360644..112363312,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1057474	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11749921	0.84[JPT][hapmap]
rs12517398	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12654474	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13156493	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13159449	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13171553	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13171773	0.84[EUR][1000 genomes]
rs13176362	0.80[EUR][1000 genomes]
rs13177101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13183347	0.82[EUR][1000 genomes]
rs13445	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1363333	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1549181	0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1549182	0.84[ASN][1000 genomes]
rs17312754	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17372511	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2112454	0.82[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap]
rs2416300	0.88[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs3185733	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33544	0.85[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap]
rs33551	0.91[GIH][hapmap];0.82[JPT][hapmap]
rs33552	0.86[JPT][hapmap]
rs33554	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs33557	0.85[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap]
rs33568	0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs33569	0.80[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs3857434	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4074190	0.81[JPT][hapmap]
rs4075350	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4301226	0.81[JPT][hapmap]
rs4334876	0.85[EUR][1000 genomes]
rs4705529	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4705744	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4705745	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4705749	1.00[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4705750	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705752	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4705758	0.81[JPT][hapmap]
rs4778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6594665	0.81[JPT][hapmap]
rs6869100	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6877769	0.81[JPT][hapmap]
rs6894219	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs7670	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7701781	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9122	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9784647	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv964923	chr5:112349068-112350764	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs13186334	DCP2	cis	Skin Sun Exposed Lower leg	GTEx
rs13186334	DCP2	Cis_1M	lymphoblastoid	RTeQTL
rs13186334	MCC	cis	cerebellum	SCAN
rs13186334	MCC	cis	Whole Blood	GTEx
rs13186334	DCP2	cis	lymphoblastoid	seeQTL
rs13186334	DCP2	cis	Nerve Tibial	GTEx
rs13186334	TSLP	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
2	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
3	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
4	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:112320600-112362600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:112321200-112364800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:112321400-112363800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:112321600-112353800	Weak transcription	Fetal Heart	heart
12	chr5:112322600-112362400	Weak transcription	Psoas Muscle	Psoas
13	chr5:112322800-112362400	Weak transcription	Esophagus	oesophagus
14	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:112327800-112364600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:112329400-112356800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr5:112330200-112362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:112332400-112352400	Strong transcription	Dnd41	blood
19	chr5:112332400-112355800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
21	chr5:112332800-112352200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:112333000-112359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:112333200-112362400	Weak transcription	Right Ventricle	heart
24	chr5:112334000-112365200	Strong transcription	Placenta	Placenta
25	chr5:112334200-112352600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:112334800-112352200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:112335600-112353200	Strong transcription	Fetal Thymus	thymus
28	chr5:112335800-112351000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:112336400-112350800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:112338600-112360800	Weak transcription	Aorta	Aorta
31	chr5:112339200-112362400	Weak transcription	Pancreas	Pancrea
32	chr5:112339400-112356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:112339400-112362000	Weak transcription	Gastric	stomach
34	chr5:112340400-112362400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:112340400-112362600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:112340400-112362600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:112341600-112357600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr5:112341800-112352600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:112342000-112352600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:112342200-112362600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:112342800-112351000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:112342800-112351200	Strong transcription	GM12878-XiMat	blood
43	chr5:112342800-112352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:112342800-112354800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:112343000-112351000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:112343200-112351600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:112343200-112357000	Strong transcription	Primary B cells from cord blood	blood
48	chr5:112343200-112357000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:112343600-112351200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:112343600-112351600	Strong transcription	Adipose Nuclei	Adipose

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