Variant report

Variant	rs9429073
Chromosome Location	chr1:45813034-45813035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45769536..45771577-chr1:45812790..45815177,2	K562	blood:
2	chr1:45478794..45481756-chr1:45811013..45814397,3	K562	blood:
3	chr1:45769560..45771577-chr1:45812920..45815177,2	K562	blood:
4	chr1:45811184..45813641-chr1:45972187..45974707,2	K562	blood:
5	chr1:45811327..45813389-chr1:45835380..45837903,2	K562	blood:
6	chr1:45812595..45814836-chr1:46042720..46044656,2	K562	blood:
7	chr1:45293740..45296221-chr1:45811017..45813846,2	K562	blood:
8	chr1:45810406..45813503-chr1:45959640..45961736,3	K562	blood:
9	chr1:45478234..45481000-chr1:45809377..45813854,5	K562	blood:
10	chr1:45810813..45813793-chr1:45880439..45883118,2	MCF-7	breast:
11	chr1:45810314..45813113-chr1:46064660..46067353,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000126088	Chromatin interaction
ENSG00000236872	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10890327	0.80[EUR][1000 genomes]
rs11211101	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11211108	0.82[EUR][1000 genomes]
rs12037411	0.87[EUR][1000 genomes]
rs12046816	0.81[EUR][1000 genomes]
rs12097497	0.80[EUR][1000 genomes]
rs12410493	0.80[EUR][1000 genomes]
rs1417578	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1494812	0.80[EUR][1000 genomes]
rs1538970	0.81[EUR][1000 genomes]
rs17395553	0.87[EUR][1000 genomes]
rs1771551	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1826691	0.81[EUR][1000 genomes]
rs2050884	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2088100	0.80[EUR][1000 genomes]
rs2153607	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2153608	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2153609	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2185549	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2298018	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2487442	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2492836	0.84[ASN][1000 genomes]
rs2492840	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3219463	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3219472	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3219489	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3790582	0.81[EUR][1000 genomes]
rs4660301	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4660849	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4660851	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4660852	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4660853	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4660854	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4660855	0.80[EUR][1000 genomes]
rs61788261	0.81[EUR][1000 genomes]
rs61791362	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61791369	0.82[EUR][1000 genomes]
rs7417107	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7525849	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7531253	0.82[EUR][1000 genomes]
rs7532762	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7536135	0.82[EUR][1000 genomes]
rs7543428	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7544178	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7553318	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs781226	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs781230	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs781232	0.81[EUR][1000 genomes]
rs884962	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9326141	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9429072	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9429074	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9429076	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9429158	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9429159	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9429160	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9429161	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9429073	MUTYH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45806600-45821600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:45807200-45814200	Weak transcription	Fetal Brain Male	brain
3	chr1:45807200-45825800	Weak transcription	Small Intestine	intestine
4	chr1:45807400-45813600	Weak transcription	NHDF-Ad	bronchial
5	chr1:45807600-45813400	Weak transcription	Right Atrium	heart
6	chr1:45807800-45813600	Strong transcription	Fetal Intestine Large	intestine
7	chr1:45807800-45813600	Strong transcription	Fetal Intestine Small	intestine
8	chr1:45807800-45813800	Strong transcription	Fetal Stomach	stomach
9	chr1:45808200-45814000	Weak transcription	Stomach Mucosa	stomach
10	chr1:45808400-45813600	Weak transcription	Fetal Heart	heart
11	chr1:45808800-45813800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:45808800-45825600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:45809200-45813200	Strong transcription	Spleen	Spleen
14	chr1:45809200-45813400	Weak transcription	HSMMtube	muscle
15	chr1:45809200-45815000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:45810000-45819800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:45810200-45813600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:45810200-45813600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:45810400-45813400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:45810600-45813400	Weak transcription	HMEC	breast
21	chr1:45810600-45813600	Weak transcription	Left Ventricle	heart
22	chr1:45810600-45813800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:45810600-45814000	Weak transcription	Pancreas	Pancrea
24	chr1:45810600-45814600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:45810600-45825600	Weak transcription	Fetal Kidney	kidney
26	chr1:45810800-45813600	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:45810800-45813600	Weak transcription	NHLF	lung
28	chr1:45810800-45820800	Weak transcription	HUVEC	blood vessel
29	chr1:45811000-45813600	Weak transcription	HSMM	muscle
30	chr1:45811000-45813600	Weak transcription	NH-A	brain
31	chr1:45811000-45813800	Weak transcription	Osteobl	bone
32	chr1:45811000-45814000	Weak transcription	Aorta	Aorta
33	chr1:45811000-45814200	Weak transcription	Adipose Nuclei	Adipose
34	chr1:45811200-45813400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:45811200-45813600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:45811200-45813600	Weak transcription	Esophagus	oesophagus
37	chr1:45811200-45813600	Weak transcription	Ovary	ovary
38	chr1:45811200-45813800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:45811200-45814000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:45811200-45814000	Weak transcription	Brain Germinal Matrix	brain
41	chr1:45811200-45820800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:45811200-45825600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:45811200-45825600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:45811200-45825600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:45811400-45817000	Weak transcription	HepG2	liver
46	chr1:45811400-45825800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:45811400-45825800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:45811600-45813400	Weak transcription	Right Ventricle	heart
49	chr1:45811600-45813400	Weak transcription	NHEK	skin
50	chr1:45811600-45813600	Weak transcription	Placenta Amnion	Placenta Amnion

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