Variant report

Variant	rs806293
Chromosome Location	chr13:50812982-50812983
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50811157..50813184-chr13:50814146..50815876,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2762049	0.86[ASN][1000 genomes]
rs2762060	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs706606	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs806292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs806295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs806296	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs806297	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs806316	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs806319	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs806321	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs806322	0.84[ASN][1000 genomes]
rs806334	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50800400-50814400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:50804400-50818600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:50805000-50818600	Weak transcription	Psoas Muscle	Psoas
4	chr13:50805200-50815800	Weak transcription	Small Intestine	intestine
5	chr13:50808400-50818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:50810400-50813800	Weak transcription	HepG2	liver
7	chr13:50810400-50814400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:50811600-50813400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:50811600-50813400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr13:50811600-50814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:50811600-50815400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:50811600-50818600	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:50812000-50814800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:50812000-50815000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:50812200-50818200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:50812200-50818600	Weak transcription	Pancreas	Pancrea
17	chr13:50812400-50813600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:50812400-50813600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:50812400-50813800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr13:50812400-50818400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr13:50812600-50822600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr13:50812800-50814400	Weak transcription	K562	blood

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