Variant report

Variant	rs8005494
Chromosome Location	chr14:68315013-68315014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68314860..68317034-chr14:68333283..68336153,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10131022	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134763	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134988	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139482	0.92[ASN][1000 genomes]
rs10142186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147052	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104697	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17515456	1.00[ASN][1000 genomes]
rs2295109	0.92[ASN][1000 genomes]
rs2295110	0.92[ASN][1000 genomes]
rs28396172	0.96[AFR][1000 genomes]
rs28451245	0.86[AFR][1000 genomes]
rs28451605	0.95[ASN][1000 genomes]
rs34057001	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34706521	1.00[ASN][1000 genomes]
rs35010674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4272963	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902522	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902525	0.80[AFR][1000 genomes]
rs57348219	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58112975	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7143483	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7144698	0.92[ASN][1000 genomes]
rs7145385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7149669	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157699	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009762	0.89[AFR][1000 genomes]
rs8010136	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8015427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8015609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8018161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8018528	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8023116	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68287400-68315200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:68287600-68317800	Weak transcription	Spleen	Spleen
3	chr14:68287800-68318200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:68294200-68316600	Weak transcription	Placenta	Placenta
5	chr14:68294600-68318200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:68300600-68336200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:68303200-68318200	Weak transcription	Ovary	ovary
8	chr14:68303200-68331800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:68311000-68316000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:68311400-68325800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:68312800-68315800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr14:68313200-68318000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:68313200-68324400	Weak transcription	Gastric	stomach
14	chr14:68313200-68326400	Weak transcription	Pancreas	Pancrea
15	chr14:68313200-68333400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:68313200-68333800	Weak transcription	Primary T cells from cord blood	blood
17	chr14:68313400-68322200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:68313800-68320600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:68313800-68324600	Weak transcription	Esophagus	oesophagus
20	chr14:68314000-68331400	Weak transcription	Dnd41	blood
21	chr14:68315000-68315800	ZNF genes & repeats	Primary B cells from cord blood	blood

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