Variant report

Variant	rs6470743
Chromosome Location	chr8:130606310-130606311
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	chr8:130599928..130602173-chr8:130605969..130607629,2	MCF-7	breast:
2	chr8:130605721..130608302-chr8:130609684..130611618,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10098310	0.81[JPT][hapmap]
rs10103048	0.82[GIH][hapmap];0.81[JPT][hapmap]
rs10107630	0.86[JPT][hapmap]
rs10956483	0.81[CHB][hapmap]
rs10956485	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs11785889	0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs12542190	0.91[CHB][hapmap]
rs12544501	0.85[ASN][1000 genomes]
rs12676406	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12676428	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12677963	0.86[CHB][hapmap]
rs12681229	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13277237	0.84[GIH][hapmap];0.86[JPT][hapmap]
rs1368700	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1433577	0.95[CEU][hapmap];0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1433580	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1583333	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs16904119	0.83[CEU][hapmap];0.91[CHB][hapmap]
rs16904121	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16904123	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1865223	0.82[GIH][hapmap];0.86[JPT][hapmap]
rs1946627	0.87[ASN][1000 genomes]
rs2163952	0.81[JPT][hapmap]
rs2395905	0.82[ASN][1000 genomes]
rs2395906	0.81[JPT][hapmap]
rs28500514	0.82[ASN][1000 genomes]
rs4407843	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4480083	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs55964818	0.85[ASN][1000 genomes]
rs6470742	0.91[CHB][hapmap];0.91[GIH][hapmap]
rs6982553	0.81[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap]
rs6989110	0.81[ASN][1000 genomes]
rs7000230	0.85[ASN][1000 genomes]
rs7000289	0.95[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7000320	0.83[CEU][hapmap];0.91[CHB][hapmap]
rs7000372	0.83[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap]
rs7005227	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7008811	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7011870	0.83[CEU][hapmap];0.91[CHB][hapmap]
rs7840067	0.83[CEU][hapmap];0.91[CHB][hapmap]
rs7846327	0.83[CEU][hapmap];0.91[CHB][hapmap];0.91[GIH][hapmap]
rs996313	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6470743	KCNQ3	cis	parietal	SCAN
rs6470743	PHF20L1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130592600-130607000	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:130602200-130606400	Enhancers	Fetal Muscle Leg	muscle
3	chr8:130602200-130606800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:130602400-130606400	Enhancers	Fetal Thymus	thymus
5	chr8:130605000-130606400	Enhancers	Fetal Muscle Trunk	muscle
6	chr8:130605000-130606600	Flanking Active TSS	Dnd41	blood
7	chr8:130606000-130606400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:130606000-130607400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links