Variant report

Variant	rs66941454
Chromosome Location	chr2:186299068-186299069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:186291344..186293651-chr2:186297486..186299914,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11675629	0.90[ASN][1000 genomes]
rs11676655	0.90[ASN][1000 genomes]
rs11681870	0.90[ASN][1000 genomes]
rs11686861	0.90[ASN][1000 genomes]
rs11691490	0.90[ASN][1000 genomes]
rs11691615	0.90[ASN][1000 genomes]
rs11693233	0.90[ASN][1000 genomes]
rs12988744	0.90[ASN][1000 genomes]
rs13014616	0.90[ASN][1000 genomes]
rs13014885	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015110	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17331619	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17331682	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17403498	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17403547	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17403638	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087779	0.90[ASN][1000 genomes]
rs34537855	0.90[ASN][1000 genomes]
rs34826735	0.90[ASN][1000 genomes]
rs34969380	0.90[ASN][1000 genomes]
rs35066265	0.90[ASN][1000 genomes]
rs35630311	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35815004	0.90[ASN][1000 genomes]
rs35871462	0.90[ASN][1000 genomes]
rs35920523	0.90[ASN][1000 genomes]
rs66759141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731674	0.90[ASN][1000 genomes]
rs67432566	0.90[ASN][1000 genomes]
rs67638453	0.90[ASN][1000 genomes]
rs67992386	0.90[ASN][1000 genomes]
rs71430186	0.90[ASN][1000 genomes]
rs72892419	0.90[ASN][1000 genomes]
rs72892423	0.90[ASN][1000 genomes]
rs72892438	0.90[ASN][1000 genomes]
rs72892443	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584009	chr2:186203397-186345148	Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv459982	chr2:186213755-186475590	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv584012	chr2:186213755-186475590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875525	chr2:186223503-186434458	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv470502	chr2:186245653-186309738	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv459983	chr2:186245653-186377253	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv584013	chr2:186245653-186377253	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875526	chr2:186272059-186434458	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv875527	chr2:186272059-186475590	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv459985	chr2:186293335-186422662	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv584014	chr2:186293335-186422662	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv459986	chr2:186297074-186413124	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv584015	chr2:186297074-186413124	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186297800-186299200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:186297800-186299200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:186298200-186299200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:186298200-186315800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:186298600-186299200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:186298600-186299600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:186298600-186300400	Active TSS	HMEC	breast
8	chr2:186298600-186315800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:186298800-186299200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:186298800-186300000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:186298800-186300200	Active TSS	NHEK	skin
12	chr2:186298800-186314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:186299000-186299200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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