Variant report

Variant	rs7543818
Chromosome Location	chr1:45504524-45504525
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr1:45504453-45505056	K562	blood:	n/a	chr1:45504811-45504827 chr1:45504582-45504590 chr1:45504814-45504824
2	NR2F2	chr1:45504420-45505116	K562	blood:	n/a	chr1:45504913-45504928
3	GATA1	chr1:45503825-45505209	K562	blood:	n/a	chr1:45504811-45504827 chr1:45504582-45504590 chr1:45504814-45504824
4	NR2F2	chr1:45504370-45505270	K562	blood:	n/a	chr1:45504913-45504928
5	TEAD4	chr1:45504401-45505190	K562	blood:	n/a	n/a
6	GATA2	chr1:45504427-45505123	K562	blood:	n/a	chr1:45504811-45504827 chr1:45504582-45504590 chr1:45504814-45504824
7	STAT5A	chr1:45504450-45505159	K562	blood:	n/a	n/a
8	TRIM28	chr1:45504507-45505040	K562	blood:	n/a	n/a
9	CTCF	chr1:45504400-45504550	GM12874	blood:	n/a	n/a
10	CEBPD	chr1:45504506-45505148	K562	blood:	n/a	n/a
11	PML	chr1:45504476-45505052	K562	blood:	n/a	n/a
12	TEAD4	chr1:45504411-45505116	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45503364..45509535-chr1:45510898..45517046,6	K562	blood:
2	chr1:45185795..45187646-chr1:45502768..45506079,3	K562	blood:
3	chr1:45500321..45502356-chr1:45502649..45504845,2	K562	blood:

Variant related genes	Relation type
ENSG00000264650	TF binding region
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10736425	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890319	0.95[AFR][1000 genomes]
rs11211072	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12047556	0.95[AFR][1000 genomes]
rs12094272	0.93[AFR][1000 genomes]
rs2298006	0.89[AFR][1000 genomes]
rs6671633	0.95[AFR][1000 genomes]
rs7537361	0.95[AFR][1000 genomes]
rs7551698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	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
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7543818	MUTYH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
3	chr1:45481200-45510200	Weak transcription	Lung	lung
4	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
6	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:45491800-45516400	Weak transcription	Spleen	Spleen
8	chr1:45492000-45507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:45495000-45506800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:45497400-45525400	Weak transcription	Gastric	stomach
11	chr1:45498000-45525600	Weak transcription	Pancreas	Pancrea
12	chr1:45498200-45506800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:45499200-45516200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:45500000-45504800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:45500400-45505200	Weak transcription	Right Ventricle	heart
16	chr1:45500400-45516600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:45501400-45516600	Weak transcription	Small Intestine	intestine
18	chr1:45501600-45504800	Enhancers	Fetal Intestine Large	intestine
19	chr1:45501800-45505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:45501800-45508000	Weak transcription	Brain Substantia Nigra	brain
21	chr1:45501800-45516200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:45501800-45521200	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:45501800-45527000	Weak transcription	Fetal Brain Male	brain
24	chr1:45502000-45507600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:45502000-45507600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:45502000-45508000	Weak transcription	Brain Angular Gyrus	brain
27	chr1:45502000-45508000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:45502000-45508000	Weak transcription	Fetal Brain Female	brain
29	chr1:45502000-45508200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:45502000-45508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:45502000-45510600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:45502000-45512800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:45502000-45523800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:45502400-45505200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:45502400-45507800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:45502400-45523000	Weak transcription	Aorta	Aorta
37	chr1:45503400-45508200	Weak transcription	Brain Anterior Caudate	brain
38	chr1:45503600-45505200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:45503800-45504800	Strong transcription	Ovary	ovary
40	chr1:45504000-45505200	Genic enhancers	HepG2	liver
41	chr1:45504000-45509800	Strong transcription	Brain Germinal Matrix	brain
42	chr1:45504000-45510400	Weak transcription	Hela-S3	cervix
43	chr1:45504200-45504600	Genic enhancers	Fetal Intestine Small	intestine
44	chr1:45504200-45505000	Strong transcription	Fetal Stomach	stomach
45	chr1:45504200-45505800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:45504200-45524200	Weak transcription	Esophagus	oesophagus
47	chr1:45504400-45505000	Flanking Active TSS	K562	blood
48	chr1:45504400-45524000	Weak transcription	Rectal Mucosa Donor 31	rectum

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