Variant report

Variant	rs26282
Chromosome Location	chr5:80050981-80050982
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80049158..80052845-chr5:80056288..80059425,3	K562	blood:

Extended variants
information (count: 144 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs11950480	0.93[ASN][1000 genomes]
rs13161245	0.95[CEU][hapmap]
rs1346463	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs1346464	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs1382539	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1382540	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1382541	0.89[ASN][1000 genomes]
rs1382542	0.89[ASN][1000 genomes]
rs1382543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1478834	0.95[CEU][hapmap]
rs1628627	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1631572	0.89[ASN][1000 genomes]
rs1643638	1.00[CEU][hapmap]
rs1643639	0.89[ASN][1000 genomes]
rs1643641	0.89[ASN][1000 genomes]
rs1643649	0.95[CEU][hapmap]
rs1643650	0.95[CEU][hapmap]
rs1643652	0.89[ASN][1000 genomes]
rs1643653	0.89[ASN][1000 genomes]
rs1643655	0.89[ASN][1000 genomes]
rs1643657	0.95[CEU][hapmap]
rs1643658	0.95[CEU][hapmap]
rs1643659	0.95[CEU][hapmap]
rs1650648	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs1650650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1650651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1650652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1650653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1650654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1650655	0.93[ASN][1000 genomes]
rs1650656	0.85[ASN][1000 genomes]
rs1650657	0.93[ASN][1000 genomes]
rs1650658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1650659	0.93[ASN][1000 genomes]
rs1650661	0.93[ASN][1000 genomes]
rs1650662	0.93[ASN][1000 genomes]
rs1650663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1650664	0.93[ASN][1000 genomes]
rs1650665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1650666	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1650667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1650668	0.93[ASN][1000 genomes]
rs1650670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1650671	0.93[ASN][1000 genomes]
rs1650674	0.93[ASN][1000 genomes]
rs1650675	0.93[ASN][1000 genomes]
rs1650676	0.93[ASN][1000 genomes]
rs1650677	0.93[ASN][1000 genomes]
rs1650678	0.93[ASN][1000 genomes]
rs1650679	0.93[ASN][1000 genomes]
rs1650680	0.93[ASN][1000 genomes]
rs1650681	0.93[ASN][1000 genomes]
rs1650682	0.93[ASN][1000 genomes]
rs1650683	0.93[ASN][1000 genomes]
rs1650685	0.93[ASN][1000 genomes]
rs1650692	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1650693	0.89[ASN][1000 genomes]
rs1650694	0.89[ASN][1000 genomes]
rs1650695	0.89[ASN][1000 genomes]
rs1650696	0.89[ASN][1000 genomes]
rs1650709	0.94[CEU][hapmap]
rs1650737	0.86[EUR][1000 genomes]
rs1677623	0.93[ASN][1000 genomes]
rs1677625	0.93[ASN][1000 genomes]
rs1677626	0.95[CEU][hapmap]
rs1677628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1677629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1677635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1677636	0.95[CEU][hapmap]
rs1677638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1677639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1677640	0.93[ASN][1000 genomes]
rs1677641	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1677642	0.93[ASN][1000 genomes]
rs1677643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1677644	0.93[ASN][1000 genomes]
rs1677645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1677647	0.93[ASN][1000 genomes]
rs1677648	0.93[ASN][1000 genomes]
rs1677649	0.93[ASN][1000 genomes]
rs1677650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1677652	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs1677653	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs1677667	0.89[ASN][1000 genomes]
rs1677680	0.89[ASN][1000 genomes]
rs1677682	0.93[ASN][1000 genomes]
rs1677683	0.81[ASN][1000 genomes]
rs1677690	0.85[ASN][1000 genomes]
rs1677691	0.95[CEU][hapmap]
rs1677692	0.95[CEU][hapmap]
rs1677693	0.95[CEU][hapmap]
rs1677694	0.95[CEU][hapmap]
rs1677698	0.93[ASN][1000 genomes]
rs1677703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1677708	0.86[ASN][1000 genomes]
rs1824837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1824838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1824839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2405880	0.89[ASN][1000 genomes]
rs245331	0.89[EUR][1000 genomes]
rs245332	0.92[EUR][1000 genomes]
rs2560424	0.95[CEU][hapmap]
rs2560425	0.84[EUR][1000 genomes]
rs2618372	0.95[CEU][hapmap]
rs26267	0.96[EUR][1000 genomes]
rs28027	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs32959	0.96[EUR][1000 genomes]
rs56357417	0.93[ASN][1000 genomes]
rs6151613	0.81[ASN][1000 genomes]
rs6151614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6151615	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs6151618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6151619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6151620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6151632	0.93[ASN][1000 genomes]
rs6151633	0.81[ASN][1000 genomes]
rs6151665	1.00[JPT][hapmap]
rs836794	0.87[EUR][1000 genomes]
rs836795	0.90[EUR][1000 genomes]
rs836801	0.82[CEU][hapmap]
rs836802	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs836806	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs836808	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs836813	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs836816	0.84[EUR][1000 genomes]
rs836818	0.95[CEU][hapmap]
rs836821	0.95[CEU][hapmap]
rs836822	0.95[CEU][hapmap]
rs836823	0.95[CEU][hapmap]
rs844369	0.85[EUR][1000 genomes]
rs844370	0.95[CEU][hapmap]
rs857287	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs857289	0.89[ASN][1000 genomes]
rs857290	0.85[ASN][1000 genomes]
rs863214	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs863215	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1795990	chr5:80043404-80066135	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs26282	ANKRD34B	cis	Whole Blood	GTEx
rs26282	DHFR	cis	Adipose Subcutaneous	GTEx
rs26282	DHFR	cis	Whole Blood	GTEx
rs26282	DHFR	cis	Heart Left Ventricle	GTEx
rs26282	MSH3	cis	Thyroid	GTEx
rs26282	DHFR	cis	Muscle Skeletal	GTEx
rs26282	DHFR///LOC643509	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79964800-80057800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:79971800-80112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:79985000-80100600	Weak transcription	Brain Germinal Matrix	brain
4	chr5:79998600-80051000	Weak transcription	Fetal Brain Male	brain
5	chr5:79998800-80109400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:80022800-80051200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:80033200-80051400	Weak transcription	HMEC	breast
8	chr5:80039200-80051200	Weak transcription	Colonic Mucosa	Colon
9	chr5:80039200-80075800	Weak transcription	HepG2	liver
10	chr5:80039400-80060200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:80040200-80073800	Weak transcription	Hela-S3	cervix
12	chr5:80041200-80076000	Weak transcription	Small Intestine	intestine
13	chr5:80041200-80100400	Weak transcription	Gastric	stomach
14	chr5:80041800-80055200	Weak transcription	Esophagus	oesophagus
15	chr5:80041800-80094200	Weak transcription	NHLF	lung
16	chr5:80042200-80075800	Weak transcription	A549	lung
17	chr5:80042400-80051200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:80042400-80056800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:80042800-80055600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:80042800-80056600	Weak transcription	Aorta	Aorta
21	chr5:80042800-80056600	Weak transcription	Fetal Lung	lung
22	chr5:80042800-80057000	Weak transcription	NHEK	skin
23	chr5:80042800-80068600	Weak transcription	Pancreas	Pancrea
24	chr5:80042800-80073400	Weak transcription	Fetal Intestine Small	intestine
25	chr5:80042800-80074800	Weak transcription	Fetal Stomach	stomach
26	chr5:80042800-80089200	Weak transcription	Brain Substantia Nigra	brain
27	chr5:80042800-80118200	Weak transcription	Spleen	Spleen
28	chr5:80042800-80173400	Weak transcription	Right Ventricle	heart
29	chr5:80043000-80056600	Weak transcription	Fetal Intestine Large	intestine
30	chr5:80043000-80057000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:80043000-80059200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:80043000-80067400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:80043000-80073600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:80043000-80075600	Weak transcription	Ovary	ovary
35	chr5:80043200-80075800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr5:80043400-80076200	Weak transcription	HUVEC	blood vessel
37	chr5:80043600-80051000	Weak transcription	K562	blood
38	chr5:80043600-80089000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:80043800-80057000	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:80043800-80059200	Weak transcription	Fetal Brain Female	brain
41	chr5:80044000-80056200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:80044000-80059000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:80044000-80096400	Weak transcription	Brain Anterior Caudate	brain
44	chr5:80044400-80073600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:80045200-80059000	Weak transcription	Lung	lung
46	chr5:80045400-80051000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:80045400-80063200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:80045800-80051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:80045800-80056600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:80048800-80052400	Enhancers	HUES64 Cell Line	embryonic stem cell

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