Variant report

Variant	rs56377439
Chromosome Location	chr6:133596227-133596228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10872402	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12175835	0.82[AMR][1000 genomes]
rs12190309	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12192839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12193038	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12193158	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12202540	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12204996	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12206438	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1415858	0.93[EUR][1000 genomes]
rs2180729	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28405267	0.82[AMR][1000 genomes]
rs28620929	0.84[EUR][1000 genomes]
rs3756869	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3756871	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3756872	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3777785	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3777796	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3777799	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55947866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62430275	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62430313	0.86[AMR][1000 genomes]
rs62430315	0.82[AMR][1000 genomes]
rs6569873	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6569874	0.91[ASN][1000 genomes]
rs6912995	0.88[EUR][1000 genomes]
rs6940510	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7746298	0.93[EUR][1000 genomes]
rs7754501	0.88[EUR][1000 genomes]
rs9321393	0.92[EUR][1000 genomes]
rs9373038	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9373041	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9373043	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9373047	0.82[AMR][1000 genomes]
rs9375942	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9375943	0.92[EUR][1000 genomes]
rs9375948	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9375949	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375955	0.82[AMR][1000 genomes]
rs9385640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9385641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9385642	0.91[ASN][1000 genomes]
rs9389052	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9389059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9389060	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9389061	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9389062	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9389064	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9389066	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9399053	0.88[EUR][1000 genomes]
rs9399054	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9399055	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9399057	0.82[AMR][1000 genomes]
rs9402487	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9402489	0.88[EUR][1000 genomes]
rs9402493	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9402494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9402497	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9402498	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483560	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758080	chr6:133444719-133627364	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2759470	chr6:133444719-133627364	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv470862	chr6:133492507-133600402	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv886678	chr6:133550279-133631190	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv5483	chr6:133554303-133599338	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv886679	chr6:133578733-133635272	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133581000-133599000	Weak transcription	A549	lung
2	chr6:133594200-133596400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:133594200-133596400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:133594200-133597000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:133594200-133597200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:133594200-133597800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:133594200-133598200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:133594200-133598200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:133594200-133598600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:133594200-133599200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:133594200-133603200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:133594200-133603800	Weak transcription	Fetal Kidney	kidney
13	chr6:133594200-133603800	Weak transcription	Psoas Muscle	Psoas
14	chr6:133594200-133607000	Weak transcription	Hela-S3	cervix
15	chr6:133594200-133612800	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:133594200-133614000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:133594200-133617200	Weak transcription	Left Ventricle	heart
18	chr6:133596200-133596400	Enhancers	HUES64 Cell Line	embryonic stem cell

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