Variant report

Variant	rs3864527
Chromosome Location	chr7:140673399-140673400
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140673174..140674792-chr7:140679004..140681718,2	MCF-7	breast:
2	chr7:140672514..140673484-chr7:140692059..140692995,8	MCF-7	breast:
3	chr7:140672428..140674348-chr7:140681005..140683175,2	K562	blood:
4	chr7:140668526..140670352-chr7:140672310..140674813,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10215245	0.84[EUR][1000 genomes]
rs10240888	0.91[ASN][1000 genomes]
rs10255167	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10265001	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10268118	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1044927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10952364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12538296	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13234490	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs13236223	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13236704	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs13438609	0.95[ASN][1000 genomes]
rs1476816	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs1533933	0.84[EUR][1000 genomes]
rs1860720	0.81[EUR][1000 genomes]
rs2079827	0.82[ASN][1000 genomes]
rs246739	0.82[ASN][1000 genomes]
rs28766874	0.81[ASN][1000 genomes]
rs3805116	0.85[CHB][hapmap]
rs3852286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38715	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs38720	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs38722	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs38723	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs38726	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs38734	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs38739	1.00[CHB][hapmap]
rs38740	1.00[CHB][hapmap]
rs4726225	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs488795	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs512509	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs528957	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs557962	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs58901822	0.82[ASN][1000 genomes]
rs60164573	0.95[ASN][1000 genomes]
rs62485391	0.95[ASN][1000 genomes]
rs62485451	0.95[ASN][1000 genomes]
rs62485452	0.86[ASN][1000 genomes]
rs62485453	0.82[ASN][1000 genomes]
rs6464217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6464260	0.90[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs6662	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6967214	0.82[EUR][1000 genomes]
rs6971577	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7792447	0.81[EUR][1000 genomes]
rs7801518	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs801127	1.00[CHB][hapmap]
rs9274	1.00[CHB][hapmap]
rs9800952	0.80[AMR][1000 genomes];0.83[EUR][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	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1797438	chr7:140666808-140682332	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3864527	MRPS33	Cis_1M	lymphoblastoid	RTeQTL
rs3864527	TMEM178B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140672000-140673800	Enhancers	Liver	Liver
2	chr7:140672200-140673600	Flanking Active TSS	HepG2	liver
3	chr7:140672400-140673800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:140672400-140673800	Enhancers	Placenta	Placenta
5	chr7:140672400-140674000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:140672600-140673800	Enhancers	Fetal Intestine Large	intestine
7	chr7:140672800-140673800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:140672800-140674000	Enhancers	Adipose Nuclei	Adipose
9	chr7:140672800-140674000	Enhancers	Fetal Intestine Small	intestine
10	chr7:140673000-140673600	Enhancers	Hela-S3	cervix
11	chr7:140673000-140674000	Enhancers	Primary neutrophils fromperipheralblood	blood

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