Variant report

Variant	rs230809
Chromosome Location	chr5:42795893-42795894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10041130	0.94[ASN][1000 genomes]
rs10941583	0.88[ASN][1000 genomes]
rs12652476	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12654861	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12656017	0.90[ASN][1000 genomes]
rs12658099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12658163	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12659225	0.81[ASN][1000 genomes]
rs1423655	0.97[ASN][1000 genomes]
rs16872680	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16872694	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16872756	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16872762	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16872777	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16872779	0.81[ASN][1000 genomes]
rs16872791	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16872824	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16872825	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16872830	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16872832	0.80[ASN][1000 genomes]
rs17839373	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17839374	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs230808	0.97[ASN][1000 genomes]
rs230811	0.94[ASN][1000 genomes]
rs2548719	0.92[ASN][1000 genomes]
rs28918068	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28919894	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28919901	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28919903	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28943887	1.00[EUR][1000 genomes]
rs28943888	1.00[EUR][1000 genomes]
rs2910854	0.97[ASN][1000 genomes]
rs2910860	0.97[ASN][1000 genomes]
rs2910863	0.97[ASN][1000 genomes]
rs2910866	0.97[ASN][1000 genomes]
rs2910879	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2972752	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2972764	0.84[ASN][1000 genomes]
rs2972768	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2972769	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2972782	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2972995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973004	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973008	0.92[ASN][1000 genomes]
rs2973009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973016	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973019	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34319505	1.00[EUR][1000 genomes]
rs34382565	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35291899	0.82[ASN][1000 genomes]
rs35389780	1.00[EUR][1000 genomes]
rs35436563	1.00[EUR][1000 genomes]
rs35604733	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4376276	0.89[ASN][1000 genomes]
rs4637559	0.89[ASN][1000 genomes]
rs6182	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6184	1.00[EUR][1000 genomes];0.97[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42778000-42800800	Weak transcription	Ovary	ovary
2	chr5:42787600-42800000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:42788400-42800000	Weak transcription	Primary B cells from cord blood	blood
4	chr5:42788600-42807600	Weak transcription	Primary T cells from cord blood	blood
5	chr5:42789400-42800600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:42789400-42800800	Weak transcription	Gastric	stomach
7	chr5:42789600-42800800	Weak transcription	Pancreas	Pancrea
8	chr5:42789600-42813400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:42790400-42799800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:42790800-42802200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:42791400-42800600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:42791400-42811200	Weak transcription	Fetal Thymus	thymus
13	chr5:42792000-42807600	Weak transcription	NHDF-Ad	bronchial
14	chr5:42793000-42797000	Weak transcription	GM12878-XiMat	blood
15	chr5:42794400-42797200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:42794400-42797400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:42794400-42802800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:42794600-42800800	Weak transcription	Aorta	Aorta
19	chr5:42794800-42798400	Weak transcription	Brain Substantia Nigra	brain
20	chr5:42795200-42797200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:42795400-42798400	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:42795600-42798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:42795600-42810200	Weak transcription	Thymus	Thymus
24	chr5:42795800-42800800	Weak transcription	Fetal Stomach	stomach
25	chr5:42795800-42801000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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