Variant report

Variant	rs62473127
Chromosome Location	chr7:111883733-111883734
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	chr7:111879038..111880794-chr7:111883732..111885374,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs2006275	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2016864	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2396531	0.83[EUR][1000 genomes]
rs4425678	0.83[EUR][1000 genomes]
rs62473060	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62473129	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62473137	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62473139	1.00[AMR][1000 genomes]
rs62473141	0.92[AMR][1000 genomes]
rs62473143	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62473145	0.83[EUR][1000 genomes]
rs62473146	0.83[EUR][1000 genomes]
rs62473147	0.83[EUR][1000 genomes]
rs62473148	0.83[EUR][1000 genomes]
rs62473149	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62473150	0.83[EUR][1000 genomes]
rs62473152	0.83[EUR][1000 genomes]
rs62473153	0.83[EUR][1000 genomes]
rs62473154	0.83[EUR][1000 genomes]
rs62473156	0.83[EUR][1000 genomes]
rs62473157	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62473960	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62474000	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62474001	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62474003	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62474007	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62474009	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62474010	0.92[AMR][1000 genomes]
rs62474011	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62474012	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62474014	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62475997	0.86[AMR][1000 genomes]
rs62476050	0.86[AMR][1000 genomes]
rs6960155	0.83[EUR][1000 genomes]
rs6971079	0.83[EUR][1000 genomes]
rs73440635	0.93[AMR][1000 genomes]
rs736760	0.83[EUR][1000 genomes]
rs739746	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	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
3	chr7:111866800-111887000	Weak transcription	HSMMtube	muscle
4	chr7:111876800-111891800	Weak transcription	Primary T cells from cord blood	blood
5	chr7:111877000-111893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:111879400-111903000	Weak transcription	Psoas Muscle	Psoas
7	chr7:111879600-111888800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:111879600-111894400	Weak transcription	Pancreas	Pancrea
9	chr7:111879800-111906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:111881800-111906400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:111883200-111883800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:111883400-111897000	Weak transcription	HepG2	liver

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