Variant report

Variant	rs1206501
Chromosome Location	chr7:121563947-121563948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1007784	0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs1011693	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1024713	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11767822	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1196480	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs1196481	0.87[EUR][1000 genomes]
rs1196483	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs1196484	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs1196486	0.86[EUR][1000 genomes]
rs1196487	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs1196488	0.82[EUR][1000 genomes]
rs1196490	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs1196491	0.82[EUR][1000 genomes]
rs1196511	0.81[EUR][1000 genomes]
rs11978007	0.82[JPT][hapmap]
rs1206367	0.84[ASW][hapmap]
rs1206368	0.84[ASW][hapmap]
rs1206369	0.84[ASW][hapmap]
rs1206473	0.86[JPT][hapmap]
rs1206477	0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs1206481	0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs1206482	0.81[AMR][1000 genomes]
rs1206483	0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs1206486	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1206487	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206488	0.87[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206490	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206492	0.88[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206500	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1206504	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206505	0.94[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206507	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206509	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206514	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206516	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206517	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1211621	0.82[EUR][1000 genomes]
rs12671846	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1526314	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1721859	0.87[EUR][1000 genomes]
rs1725066	0.84[ASW][hapmap]
rs1916875	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1916876	0.82[EUR][1000 genomes]
rs1916880	0.82[JPT][hapmap]
rs1916886	0.82[JPT][hapmap]
rs1916888	0.82[JPT][hapmap]
rs1916889	0.82[JPT][hapmap]
rs2024249	0.82[JPT][hapmap]
rs2024252	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs279668	0.84[ASW][hapmap]
rs279674	0.84[ASW][hapmap]
rs28530500	0.84[EUR][1000 genomes]
rs3757549	0.82[JPT][hapmap]
rs3757550	0.82[JPT][hapmap]
rs4629793	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4731044	0.81[CEU][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.80[TSI][hapmap];0.88[EUR][1000 genomes]
rs6961716	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs6967270	0.88[EUR][1000 genomes]
rs727766	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs740964	0.86[JPT][hapmap]
rs7794741	0.81[CEU][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.80[TSI][hapmap];0.86[EUR][1000 genomes]
rs7797305	0.82[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	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1206501	TAS2R16	cis	parietal	SCAN
rs1206501	KCND2	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121545600-121571400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:121555400-121565000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:121557400-121565600	Weak transcription	Fetal Brain Male	brain
4	chr7:121557600-121564400	Weak transcription	Brain Germinal Matrix	brain
5	chr7:121558400-121565000	Weak transcription	Fetal Brain Female	brain
6	chr7:121559600-121564600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:121560600-121564600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:121561400-121565000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:121561400-121565800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:121561600-121564200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:121561800-121566000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:121562600-121566800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:121562800-121564600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:121563000-121564000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:121563200-121566600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:121563400-121564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:121563400-121565200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:121563600-121565600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:121563800-121564000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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