Variant report

Variant	rs8084557
Chromosome Location	chr18:43688970-43688971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43683649..43685895-chr18:43688499..43690825,2	K562	blood:
2	chr18:43673300..43675362-chr18:43687086..43690045,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152234	Chromatin interaction
ENSG00000152240	Chromatin interaction

Extended variants
information (count: 26 )
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]
rs72903451	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903452	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903454	0.95[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	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs8095711	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs8098010	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
rs8084557	HAUS1	cis	Artery Tibial	GTEx
rs8084557	HAUS1	cis	Muscle Skeletal	GTEx
rs8084557	HAUS1	cis	Thyroid	GTEx
rs8084557	HAUS1	cis	Esophagus Muscularis	GTEx
rs8084557	HAUS1	cis	Heart Left Ventricle	GTEx
rs8084557	HAUS1	cis	Artery Aorta	GTEx
rs8084557	HAUS1	cis	Nerve Tibial	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	chr18:43685200-43691000	Weak transcription	Right Atrium	heart
10	chr18:43685200-43693800	Weak transcription	Aorta	Aorta
11	chr18:43685200-43696800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:43685200-43704200	Weak transcription	Psoas Muscle	Psoas
13	chr18:43685200-43704800	Weak transcription	Placenta	Placenta
14	chr18:43685200-43709000	Weak transcription	Right Ventricle	heart
15	chr18:43685200-43712600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr18:43685200-43712600	Weak transcription	Stomach Mucosa	stomach
17	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr18:43685400-43689000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr18:43685400-43689000	Weak transcription	Primary T cells from cord blood	blood
21	chr18:43685400-43689200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:43685400-43689200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:43685400-43689200	Weak transcription	Liver	Liver
24	chr18:43685400-43689600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr18:43685400-43689800	Weak transcription	Brain Angular Gyrus	brain
26	chr18:43685400-43689800	Weak transcription	Colon Smooth Muscle	Colon
27	chr18:43685400-43690400	Weak transcription	Brain Anterior Caudate	brain
28	chr18:43685400-43693200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr18:43685400-43693200	Weak transcription	Fetal Lung	lung
30	chr18:43685400-43693200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr18:43685400-43693400	Weak transcription	Brain Hippocampus Middle	brain
32	chr18:43685400-43693400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr18:43685400-43693400	Weak transcription	HSMM	muscle
34	chr18:43685400-43693600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr18:43685400-43693600	Weak transcription	NH-A	brain
36	chr18:43685400-43693800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:43685400-43693800	Weak transcription	Adipose Nuclei	Adipose
38	chr18:43685400-43693800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr18:43685400-43693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr18:43685400-43693800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr18:43685400-43693800	Weak transcription	HSMMtube	muscle
42	chr18:43685400-43694200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr18:43685400-43694200	Weak transcription	NHLF	lung
44	chr18:43685400-43694400	Weak transcription	Lung	lung
45	chr18:43685400-43694400	Weak transcription	Ovary	ovary
46	chr18:43685400-43702200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr18:43685400-43702200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr18:43685400-43703600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr18:43685400-43704200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr18:43685400-43704800	Weak transcription	Brain Substantia Nigra	brain

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