Variant report

Variant	rs72903451
Chromosome Location	chr18:43687493-43687494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43684267..43685785-chr18:43686222..43687771,2	K562	blood:
2	chr18:43673300..43675362-chr18:43687086..43690045,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152240	Chromatin interaction
ENSG00000152234	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs35071785	0.86[EUR][1000 genomes]
rs41274316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41274318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55743028	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61261514	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68059007	0.88[EUR][1000 genomes]
rs72903405	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903407	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903427	0.93[EUR][1000 genomes]
rs72903432	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72903438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903445	0.98[EUR][1000 genomes]
rs72903447	0.98[EUR][1000 genomes]
rs72903448	0.98[EUR][1000 genomes]
rs72903449	0.98[EUR][1000 genomes]
rs72903452	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903458	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8084445	0.97[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs8084557	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8095711	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs8098010	0.98[AFR][1000 genomes];0.98[EUR][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	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv962965	chr18:43678008-43706302	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs72903451	HAUS1	cis	Thyroid	GTEx
rs72903451	HAUS1	cis	Heart Left Ventricle	GTEx
rs72903451	HAUS1	cis	Artery Aorta	GTEx
rs72903451	HAUS1	cis	Artery Tibial	GTEx
rs72903451	HAUS1	cis	Esophagus Muscularis	GTEx
rs72903451	HAUS1	cis	Nerve Tibial	GTEx
rs72903451	HAUS1	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685000-43689000	Weak transcription	Gastric	stomach
2	chr18:43685000-43691200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:43685000-43693800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr18:43685000-43694400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:43685000-43694400	Weak transcription	Esophagus	oesophagus
6	chr18:43685000-43694400	Weak transcription	Left Ventricle	heart
7	chr18:43685000-43707000	Weak transcription	Spleen	Spleen
8	chr18:43685000-43709000	Weak transcription	Pancreas	Pancrea
9	chr18:43685200-43687600	Weak transcription	Fetal Intestine Large	intestine
10	chr18:43685200-43691000	Weak transcription	Right Atrium	heart
11	chr18:43685200-43693800	Weak transcription	Aorta	Aorta
12	chr18:43685200-43696800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:43685200-43704200	Weak transcription	Psoas Muscle	Psoas
14	chr18:43685200-43704800	Weak transcription	Placenta	Placenta
15	chr18:43685200-43709000	Weak transcription	Right Ventricle	heart
16	chr18:43685200-43712600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr18:43685200-43712600	Weak transcription	Stomach Mucosa	stomach
18	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:43685400-43687600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:43685400-43687600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:43685400-43687600	Weak transcription	K562	blood
23	chr18:43685400-43687800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr18:43685400-43687800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr18:43685400-43687800	Weak transcription	Fetal Intestine Small	intestine
26	chr18:43685400-43688000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr18:43685400-43688000	Weak transcription	Primary B cells from cord blood	blood
28	chr18:43685400-43688000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr18:43685400-43688000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr18:43685400-43688200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:43685400-43688200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:43685400-43688400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr18:43685400-43688600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr18:43685400-43688800	Weak transcription	Thymus	Thymus
35	chr18:43685400-43689000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr18:43685400-43689000	Weak transcription	Primary T cells from cord blood	blood
37	chr18:43685400-43689200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:43685400-43689200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr18:43685400-43689200	Weak transcription	Liver	Liver
40	chr18:43685400-43689600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr18:43685400-43689800	Weak transcription	Brain Angular Gyrus	brain
42	chr18:43685400-43689800	Weak transcription	Colon Smooth Muscle	Colon
43	chr18:43685400-43690400	Weak transcription	Brain Anterior Caudate	brain
44	chr18:43685400-43693200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr18:43685400-43693200	Weak transcription	Fetal Lung	lung
46	chr18:43685400-43693200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr18:43685400-43693400	Weak transcription	Brain Hippocampus Middle	brain
48	chr18:43685400-43693400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr18:43685400-43693400	Weak transcription	HSMM	muscle
50	chr18:43685400-43693600	Weak transcription	Rectal Mucosa Donor 31	rectum

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