Variant report

Variant	rs6451643
Chromosome Location	chr5:42768454-42768455
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	chr5:42767982..42769578-chr5:43064219..43066603,2	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10038285	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs10038477	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs10041108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041130	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10044169	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs10045847	1.00[CHB][hapmap]
rs10045863	1.00[CHB][hapmap]
rs10050889	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs10061833	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs10067153	1.00[CHB][hapmap]
rs10069861	1.00[ASN][1000 genomes]
rs10072083	1.00[CHB][hapmap]
rs10074740	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs10077296	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs10440649	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10473288	0.85[EUR][1000 genomes]
rs10805665	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs10941582	1.00[ASN][1000 genomes]
rs10941583	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10941588	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948120	1.00[ASN][1000 genomes]
rs11957404	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12514437	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518067	0.90[CEU][hapmap]
rs13153784	0.82[YRI][hapmap]
rs13154178	0.81[YRI][hapmap]
rs13163126	1.00[ASN][1000 genomes]
rs13168440	1.00[CHB][hapmap]
rs13171019	1.00[ASN][1000 genomes]
rs13175765	1.00[ASN][1000 genomes]
rs13182117	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13354167	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1423655	1.00[CEU][hapmap];0.83[YRI][hapmap];0.99[EUR][1000 genomes]
rs2081164	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs230808	0.97[EUR][1000 genomes]
rs230811	0.97[EUR][1000 genomes]
rs28919913	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28943882	1.00[CHB][hapmap]
rs2910854	0.99[EUR][1000 genomes]
rs2910860	1.00[CEU][hapmap];0.83[YRI][hapmap];0.99[EUR][1000 genomes]
rs2910863	0.99[EUR][1000 genomes]
rs2910866	0.99[EUR][1000 genomes]
rs2910878	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs2972780	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs2973008	0.99[EUR][1000 genomes]
rs34159518	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35164552	1.00[ASN][1000 genomes]
rs35893798	1.00[ASN][1000 genomes]
rs3877899	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4242116	0.90[CEU][hapmap]
rs4242117	0.91[CEU][hapmap]
rs4242119	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs4242122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242123	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242124	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273617	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs4292454	1.00[CHB][hapmap]
rs4357043	0.86[CEU][hapmap]
rs4376276	0.90[EUR][1000 genomes]
rs4394131	0.85[CEU][hapmap]
rs4547964	0.80[CEU][hapmap]
rs4569879	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4590183	0.85[CEU][hapmap]
rs4637559	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4866793	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866947	0.83[EUR][1000 genomes]
rs4866948	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs4866955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866956	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866957	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5025611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6179	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs6413428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6414898	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451627	0.85[CEU][hapmap]
rs6451634	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6451641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863953	1.00[CHB][hapmap]
rs6871947	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873545	0.85[CEU][hapmap]
rs6886047	0.86[CEU][hapmap]
rs6894403	1.00[ASN][1000 genomes]
rs7442754	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7444761	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701605	0.90[CEU][hapmap]
rs7702524	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7703289	0.83[YRI][hapmap]
rs7709370	1.00[ASN][1000 genomes]
rs7709790	1.00[CHB][hapmap]
rs7715032	0.81[CEU][hapmap]
rs9292854	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
9	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
10	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
11	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
14	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42757800-42772200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:42758000-42772200	Weak transcription	Brain Germinal Matrix	brain
3	chr5:42758200-42772600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:42758200-42772800	Weak transcription	NHDF-Ad	bronchial
5	chr5:42758200-42777600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:42765800-42770000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:42767600-42769000	Enhancers	Liver	Liver
8	chr5:42767800-42769000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:42768000-42768600	Enhancers	HepG2	liver

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