Variant report

Variant	rs2973008
Chromosome Location	chr5:42776037-42776038
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42774126..42776512-chr5:42779653..42781578,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10038285	0.86[EUR][1000 genomes]
rs10038477	0.84[EUR][1000 genomes]
rs10041108	0.92[EUR][1000 genomes]
rs10041130	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10044169	0.84[EUR][1000 genomes]
rs10061833	0.84[EUR][1000 genomes]
rs10074740	0.83[EUR][1000 genomes]
rs10077296	0.84[EUR][1000 genomes]
rs10473288	0.84[EUR][1000 genomes]
rs10805665	0.84[EUR][1000 genomes]
rs10941583	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10941588	0.97[EUR][1000 genomes]
rs1109882	0.99[EUR][1000 genomes]
rs12514437	0.99[EUR][1000 genomes]
rs12652476	0.89[ASN][1000 genomes]
rs12654861	0.89[ASN][1000 genomes]
rs12656017	0.83[ASN][1000 genomes]
rs12658099	0.92[ASN][1000 genomes]
rs12658163	0.82[ASN][1000 genomes]
rs1423655	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872680	0.89[ASN][1000 genomes]
rs16872694	0.89[ASN][1000 genomes]
rs16872756	0.89[ASN][1000 genomes]
rs16872762	0.86[ASN][1000 genomes]
rs16872777	0.86[ASN][1000 genomes]
rs16872791	0.86[ASN][1000 genomes]
rs16872824	0.82[ASN][1000 genomes]
rs16872825	0.82[ASN][1000 genomes]
rs17839373	0.89[ASN][1000 genomes]
rs17839374	0.89[ASN][1000 genomes]
rs2081164	0.90[EUR][1000 genomes]
rs230808	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs230809	0.92[ASN][1000 genomes]
rs230811	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2548719	0.85[ASN][1000 genomes]
rs28918068	0.89[ASN][1000 genomes]
rs28919894	0.86[ASN][1000 genomes]
rs28919901	0.86[ASN][1000 genomes]
rs28919903	0.86[ASN][1000 genomes]
rs28919913	0.95[EUR][1000 genomes]
rs2910854	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2910860	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2910863	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2910866	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2910878	0.84[EUR][1000 genomes]
rs2910879	0.89[ASN][1000 genomes]
rs2972752	0.89[ASN][1000 genomes]
rs2972768	0.89[ASN][1000 genomes]
rs2972769	0.89[ASN][1000 genomes]
rs2972780	0.84[EUR][1000 genomes]
rs2972782	0.89[ASN][1000 genomes]
rs2972995	0.92[ASN][1000 genomes]
rs2973004	0.92[ASN][1000 genomes]
rs2973009	0.89[ASN][1000 genomes]
rs2973016	0.89[ASN][1000 genomes]
rs2973019	0.89[ASN][1000 genomes]
rs2973030	0.88[ASN][1000 genomes]
rs34159518	0.97[EUR][1000 genomes]
rs34382565	0.89[ASN][1000 genomes]
rs35604733	0.89[ASN][1000 genomes]
rs3877899	0.96[EUR][1000 genomes]
rs4242119	0.85[EUR][1000 genomes]
rs4242122	0.97[EUR][1000 genomes]
rs4242123	0.97[EUR][1000 genomes]
rs4242124	0.99[EUR][1000 genomes]
rs4273617	0.83[EUR][1000 genomes]
rs4376276	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4547964	0.81[EUR][1000 genomes]
rs4569879	0.98[EUR][1000 genomes]
rs4637559	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4866793	0.95[EUR][1000 genomes]
rs4866947	0.84[EUR][1000 genomes]
rs4866948	0.84[EUR][1000 genomes]
rs4866955	0.97[EUR][1000 genomes]
rs4866956	0.97[EUR][1000 genomes]
rs4866957	0.97[EUR][1000 genomes]
rs6179	0.83[EUR][1000 genomes]
rs6182	0.89[ASN][1000 genomes]
rs6184	0.89[ASN][1000 genomes]
rs6413428	0.95[EUR][1000 genomes]
rs6414898	0.91[EUR][1000 genomes]
rs6451641	0.95[EUR][1000 genomes]
rs6451643	0.99[EUR][1000 genomes]
rs6871947	0.99[EUR][1000 genomes]
rs6873340	0.93[EUR][1000 genomes]
rs7442754	0.95[EUR][1000 genomes]
rs7444761	0.92[EUR][1000 genomes]
rs7447061	0.81[EUR][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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42758200-42777600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:42770800-42784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:42773200-42777800	Weak transcription	Adipose Nuclei	Adipose

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