Variant report

Variant	rs7525849
Chromosome Location	chr1:45859343-45859344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1006216	0.80[EUR][1000 genomes]
rs1084166	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10890327	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11211101	0.89[EUR][1000 genomes]
rs11211108	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11211117	0.80[EUR][1000 genomes]
rs11211118	0.80[EUR][1000 genomes]
rs12037411	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12046816	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12097497	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12410493	0.81[EUR][1000 genomes]
rs1417578	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1494812	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1538969	0.85[EUR][1000 genomes]
rs1538970	0.87[EUR][1000 genomes]
rs17395553	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1771551	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1826691	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2050884	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2088100	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2153607	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2153608	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2153609	0.83[EUR][1000 genomes]
rs2185549	0.84[EUR][1000 genomes]
rs2298018	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2487442	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2492836	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2492840	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28555082	0.80[EUR][1000 genomes]
rs3219463	0.84[EUR][1000 genomes]
rs3219472	0.84[EUR][1000 genomes]
rs3219489	0.83[EUR][1000 genomes]
rs3790582	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4660301	0.87[EUR][1000 genomes]
rs4660849	0.86[EUR][1000 genomes]
rs4660851	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4660852	0.89[EUR][1000 genomes]
rs4660853	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4660854	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4660855	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4660858	0.80[EUR][1000 genomes]
rs61788261	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61788281	0.80[EUR][1000 genomes]
rs61791362	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61791368	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61791369	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6670303	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72686460	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7417107	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7528573	0.80[EUR][1000 genomes]
rs7531253	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7532762	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7536135	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7543428	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7544178	0.86[EUR][1000 genomes]
rs7553318	0.89[EUR][1000 genomes]
rs781226	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs781230	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs781232	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs884962	0.89[EUR][1000 genomes]
rs9326141	0.89[EUR][1000 genomes]
rs9429072	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9429073	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9429074	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9429076	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9429158	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9429159	0.89[EUR][1000 genomes]
rs9429160	0.87[EUR][1000 genomes]
rs9429161	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv2750837	chr1:45796115-45908263	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7525849	MUTYH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45826200-45867200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:45841400-45889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:45853400-45861200	Weak transcription	HepG2	liver
4	chr1:45855000-45860000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:45857400-45859800	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:45858400-45860600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:45858400-45860800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:45858400-45861000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:45858400-45861600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:45858600-45859400	Enhancers	HUVEC	blood vessel
11	chr1:45858600-45859600	Enhancers	Primary B cells from cord blood	blood
12	chr1:45858800-45859400	Enhancers	Fetal Thymus	thymus
13	chr1:45858800-45859600	Flanking Active TSS	GM12878-XiMat	blood
14	chr1:45858800-45860400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr1:45858800-45860400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:45858800-45860800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:45858800-45861000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:45858800-45861400	Enhancers	Hela-S3	cervix
19	chr1:45859000-45859400	Enhancers	Adipose Nuclei	Adipose
20	chr1:45859000-45859600	Weak transcription	Right Ventricle	heart
21	chr1:45859000-45859600	Enhancers	NHEK	skin
22	chr1:45859000-45860400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:45859000-45860600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:45859000-45860800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:45859000-45861000	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:45859200-45859600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:45859200-45859800	Weak transcription	Right Atrium	heart
28	chr1:45859200-45859800	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:45859200-45860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:45859200-45867200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:45859200-45867200	Weak transcription	Stomach Mucosa	stomach

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