Variant report

Variant	rs2812198
Chromosome Location	chr13:50819888-50819889
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50697519..50700098-chr13:50819496..50821054,2	MCF-7	breast:
2	chr13:50818703..50821779-chr13:50825797..50828138,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2066628	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2066645	0.91[YRI][hapmap]
rs2066684	0.86[YRI][hapmap]
rs2580189	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2703074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740517	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2765760	0.90[AFR][1000 genomes]
rs2765765	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.80[EUR][1000 genomes];0.91[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50812600-50822600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:50817800-50820000	Enhancers	K562	blood
3	chr13:50818000-50820000	Enhancers	NHDF-Ad	bronchial
4	chr13:50818200-50820000	Enhancers	Hela-S3	cervix
5	chr13:50818200-50820200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:50818400-50820000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:50818400-50820200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:50818600-50820000	Enhancers	HMEC	breast
9	chr13:50818600-50820000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr13:50818600-50820000	Enhancers	Osteobl	bone
11	chr13:50818600-50820200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:50818600-50820200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:50818800-50820000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:50818800-50820000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:50819200-50820000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:50819400-50822200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:50819400-50822200	Weak transcription	Dnd41	blood
18	chr13:50819400-50822800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr13:50819600-50820000	Flanking Active TSS	A549	lung
20	chr13:50819600-50822800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr13:50819800-50820200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:50819800-50820200	Enhancers	Esophagus	oesophagus
23	chr13:50819800-50821200	Enhancers	HepG2	liver
24	chr13:50819800-50822000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr13:50819800-50822000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr13:50819800-50822200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:50819800-50822200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr13:50819800-50822200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:50819800-50822200	Weak transcription	Fetal Thymus	thymus
30	chr13:50819800-50822800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links