Variant report

Variant	rs1016431
Chromosome Location	chr7:51020336-51020337
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:51018656..51020597-chr7:51035869..51037756,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1016432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1018941	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1018942	0.95[AMR][1000 genomes]
rs1018979	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1018980	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1024472	0.86[AMR][1000 genomes]
rs10262964	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs1074570	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1074571	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11765215	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12534954	0.86[AMR][1000 genomes]
rs13310888	0.86[AMR][1000 genomes]
rs1859264	0.86[AMR][1000 genomes]
rs1859477	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1989265	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2189822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2214494	0.86[AMR][1000 genomes]
rs2214495	0.81[AMR][1000 genomes]
rs2329566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2329568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2329569	0.86[AMR][1000 genomes]
rs2876901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947530	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4948086	0.95[AMR][1000 genomes]
rs4948088	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6943902	0.86[AMR][1000 genomes]
rs6961183	1.00[CEU][hapmap]
rs6971609	0.82[AMR][1000 genomes]
rs6979183	0.86[AMR][1000 genomes]
rs720068	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7776597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7780389	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7790800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7800611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7803628	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs917072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs917073	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs976088	0.86[AMR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv888022	chr7:50933678-51046674	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv508453	chr7:50963780-51030439	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2761146	chr7:50975457-51957019	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1027122	chr7:50984824-51376078	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv538836	chr7:50984824-51376078	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:51006000-51021200	Weak transcription	Right Atrium	heart
2	chr7:51020000-51020800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:51020000-51021200	Enhancers	Aorta	Aorta
4	chr7:51020000-51022800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:51020000-51023200	Enhancers	Adipose Nuclei	Adipose
6	chr7:51020000-51024000	Enhancers	Pancreas	Pancrea
7	chr7:51020200-51020400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:51020200-51020400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr7:51020200-51020600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:51020200-51020600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:51020200-51021000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:51020200-51022000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:51020200-51022000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:51020200-51022400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:51020200-51023000	Enhancers	Left Ventricle	heart
16	chr7:51020200-51028400	Enhancers	HUVEC	blood vessel

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