Variant report

Variant	rs10101476
Chromosome Location	chr8:130547142-130547143
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130542173..130544704-chr8:130545389..130548489,3	K562	blood:
2	chr8:128747254..128749226-chr8:130546738..130548989,2	MCF-7	breast:
3	chr8:130546472..130548166-chr8:130548842..130551608,2	MCF-7	breast:
4	chr8:130301513..130304435-chr8:130546554..130548650,2	K562	blood:
5	chr8:130432582..130435209-chr8:130544896..130547721,2	K562	blood:
6	chr8:130462678..130464260-chr8:130546680..130548595,2	MCF-7	breast:
7	chr8:128877443..128879412-chr8:130546084..130548123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222755	Chromatin interaction
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10106330	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11774511	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782225	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11786408	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12545943	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675978	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1961510	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55977190	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470735	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470738	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67184710	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67751243	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6985031	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6996139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7000021	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7011623	0.89[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7016061	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814625	0.83[EUR][1000 genomes]
rs7831581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7835768	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839288	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7839408	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10101476	CACNB2	trans	lymphoblastoid	seeQTL
rs10101476	PHF20L1	cis	cerebellum	SCAN
rs10101476	PRPF6	trans	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130539600-130547800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130541600-130549600	Weak transcription	Right Atrium	heart
3	chr8:130542200-130547600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:130544400-130547200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:130544400-130548600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:130545400-130547600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:130546000-130547400	Strong transcription	K562	blood
8	chr8:130546200-130547800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:130546200-130551800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:130546600-130547200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:130546600-130548000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:130546600-130549200	Enhancers	Fetal Thymus	thymus
13	chr8:130546600-130551000	Enhancers	Dnd41	blood

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