Variant report

Variant	rs6954048
Chromosome Location	chr7:121132213-121132214
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	chr7:121125137..121127628-chr7:121130797..121133318,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10228676	0.94[ASN][1000 genomes]
rs10233243	1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs10237611	0.80[ASN][1000 genomes]
rs10240973	0.94[ASN][1000 genomes]
rs10253256	0.94[ASN][1000 genomes]
rs10258260	0.94[ASN][1000 genomes]
rs10258506	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10258640	0.94[ASN][1000 genomes]
rs10270561	0.94[ASN][1000 genomes]
rs10480752	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs10953936	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953937	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11761290	0.94[ASN][1000 genomes]
rs12540408	0.81[ASN][1000 genomes]
rs13229583	0.80[ASN][1000 genomes]
rs1358498	0.87[CHB][hapmap];0.82[CHD][hapmap]
rs1406194	0.94[ASN][1000 genomes]
rs1528352	0.83[ASN][1000 genomes]
rs1881374	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1881375	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881376	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1919086	0.94[ASN][1000 genomes]
rs1983493	0.94[ASN][1000 genomes]
rs1983494	0.94[ASN][1000 genomes]
rs1983495	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1983496	0.94[ASN][1000 genomes]
rs2049702	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2103298	0.94[ASN][1000 genomes]
rs2103299	0.94[ASN][1000 genomes]
rs2141364	0.94[ASN][1000 genomes]
rs2178188	0.94[ASN][1000 genomes]
rs28485397	0.81[ASN][1000 genomes]
rs28578522	0.81[ASN][1000 genomes]
rs28696257	0.94[ASN][1000 genomes]
rs34843814	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3847091	0.94[ASN][1000 genomes]
rs3847092	0.94[ASN][1000 genomes]
rs3857836	0.94[ASN][1000 genomes]
rs4145963	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4727933	0.83[ASN][1000 genomes]
rs4731023	0.94[ASN][1000 genomes]
rs4731024	0.94[ASN][1000 genomes]
rs4731025	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5000114	0.91[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs6953922	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6960065	0.94[ASN][1000 genomes]
rs7777295	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7777787	1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs7787312	0.94[ASN][1000 genomes]
rs7791746	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7793736	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7795140	0.81[ASN][1000 genomes]
rs867706	0.94[ASN][1000 genomes]
rs9649443	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1029156	chr7:121069455-121143942	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv539104	chr7:121069455-121143942	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv608333	chr7:121132213-121379616	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6954048	POT1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121126000-121136200	Weak transcription	Right Atrium	heart
2	chr7:121126000-121145200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:121126200-121144400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:121126400-121134200	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links