Variant report

Variant	rs385127
Chromosome Location	chr7:138000570-138000571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11983566	0.90[ASN][1000 genomes]
rs1643164	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs357371	0.81[ASN][1000 genomes]
rs357372	0.84[ASN][1000 genomes]
rs357381	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs357382	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs357383	0.90[ASN][1000 genomes]
rs357386	0.91[ASN][1000 genomes]
rs357435	0.86[ASN][1000 genomes]
rs357437	0.86[ASN][1000 genomes]
rs357445	0.88[ASN][1000 genomes]
rs357451	0.87[ASN][1000 genomes]
rs357454	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs357456	0.89[ASN][1000 genomes]
rs357457	0.89[ASN][1000 genomes]
rs367783	0.91[ASN][1000 genomes]
rs370275	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs373613	0.88[ASN][1000 genomes]
rs375018	0.89[ASN][1000 genomes]
rs380650	0.84[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs382122	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs392162	0.93[ASN][1000 genomes]
rs396918	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs397203	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs398970	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs399486	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs402228	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs402358	0.92[ASN][1000 genomes]
rs402486	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs407687	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs409813	0.90[ASN][1000 genomes]
rs424605	0.90[ASN][1000 genomes]
rs427954	0.92[ASN][1000 genomes]
rs428488	0.92[ASN][1000 genomes]
rs429103	0.92[ASN][1000 genomes]
rs431358	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs432187	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs446384	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs447273	0.92[ASN][1000 genomes]
rs449239	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60969	0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61662961	0.86[AFR][1000 genomes]
rs689683	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs690193	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831152	chr7:137884311-138033117	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1029101	chr7:137952620-138005671	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv5967	chr7:137988239-138015844	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv499698	chr7:137991842-138004097	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137995200-138012000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:137998600-138001600	Enhancers	HepG2	liver
3	chr7:137998600-138002400	Enhancers	Fetal Intestine Large	intestine
4	chr7:137999200-138001000	Weak transcription	Liver	Liver
5	chr7:137999400-138000600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:137999800-138001000	Weak transcription	Stomach Mucosa	stomach
7	chr7:138000400-138001600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:138000400-138002200	Enhancers	Fetal Intestine Small	intestine

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