Variant report

Variant	rs4866956
Chromosome Location	chr5:42758256-42758257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10038285	0.84[EUR][1000 genomes]
rs10038477	0.81[EUR][1000 genomes]
rs10041108	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041130	0.90[EUR][1000 genomes]
rs10044169	0.81[EUR][1000 genomes]
rs10061833	0.81[EUR][1000 genomes]
rs10069861	1.00[ASN][1000 genomes]
rs10077296	0.81[EUR][1000 genomes]
rs10440649	1.00[ASN][1000 genomes]
rs10473288	0.83[EUR][1000 genomes]
rs10805665	0.83[EUR][1000 genomes]
rs10941582	1.00[ASN][1000 genomes]
rs10941583	0.87[EUR][1000 genomes]
rs10941588	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109882	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948120	1.00[ASN][1000 genomes]
rs11957404	1.00[ASN][1000 genomes]
rs12514437	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163126	1.00[ASN][1000 genomes]
rs13171019	1.00[ASN][1000 genomes]
rs13175765	1.00[ASN][1000 genomes]
rs13182117	1.00[ASN][1000 genomes]
rs13354167	1.00[ASN][1000 genomes]
rs1423655	0.97[EUR][1000 genomes]
rs2081164	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs230808	0.96[EUR][1000 genomes]
rs230811	0.96[EUR][1000 genomes]
rs28919913	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2910854	0.97[EUR][1000 genomes]
rs2910860	0.97[EUR][1000 genomes]
rs2910863	0.97[EUR][1000 genomes]
rs2910866	0.97[EUR][1000 genomes]
rs2910878	0.82[EUR][1000 genomes]
rs2972780	0.81[EUR][1000 genomes]
rs2973008	0.97[EUR][1000 genomes]
rs34159518	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35164552	1.00[ASN][1000 genomes]
rs35566985	0.82[AFR][1000 genomes]
rs35893798	1.00[ASN][1000 genomes]
rs3877899	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4242119	0.82[EUR][1000 genomes]
rs4242122	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242123	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242124	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376276	0.88[EUR][1000 genomes]
rs4569879	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4637559	0.88[EUR][1000 genomes]
rs4866793	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866947	0.81[EUR][1000 genomes]
rs4866948	0.81[EUR][1000 genomes]
rs4866955	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5025611	1.00[ASN][1000 genomes]
rs6413428	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6414898	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451634	1.00[ASN][1000 genomes]
rs6451641	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451643	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871947	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873340	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894403	1.00[ASN][1000 genomes]
rs7442754	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7444761	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702524	1.00[ASN][1000 genomes]
rs7709370	1.00[ASN][1000 genomes]
rs9292854	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42757000-42758400	Active TSS	GM12878-XiMat	blood
2	chr5:42757800-42758600	Enhancers	HSMM	muscle
3	chr5:42757800-42758800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:42757800-42759000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:42757800-42759200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:42757800-42759400	Weak transcription	HUVEC	blood vessel
7	chr5:42757800-42760400	Weak transcription	K562	blood
8	chr5:42757800-42760800	Weak transcription	Fetal Brain Male	brain
9	chr5:42757800-42772200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:42758000-42758600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:42758000-42759000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:42758000-42760200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:42758000-42760400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:42758000-42760400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:42758000-42762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:42758000-42767800	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:42758000-42772200	Weak transcription	Brain Germinal Matrix	brain
18	chr5:42758200-42772600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:42758200-42772800	Weak transcription	NHDF-Ad	bronchial
20	chr5:42758200-42777600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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