Variant report

Variant	rs35071785
Chromosome Location	chr18:43621207-43621208
allele	A/G
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	SPI1	chr18:43620300-43621250	GM12878	blood:	n/a	chr18:43620762-43620775 chr18:43620450-43620463 chr18:43620768-43620777 chr18:43620761-43620774 chr18:43620764-43620773

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43621134..43623311-chr18:43651870..43653953,2	K562	blood:
2	chr18:43620677..43623447-chr18:43630437..43631951,2	K562	blood:

Variant related genes	Relation type
PSTPIP2	TF binding region
ENSG00000152229	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs41274316	0.86[EUR][1000 genomes]
rs41274318	0.86[EUR][1000 genomes]
rs55743028	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61261514	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs68059007	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903405	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72903407	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72903427	0.83[EUR][1000 genomes]
rs72903432	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72903438	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72903442	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72903445	0.84[EUR][1000 genomes]
rs72903447	0.84[EUR][1000 genomes]
rs72903448	0.84[EUR][1000 genomes]
rs72903449	0.84[EUR][1000 genomes]
rs72903451	0.86[EUR][1000 genomes]
rs72903452	0.84[EUR][1000 genomes]
rs72903454	0.86[EUR][1000 genomes]
rs72903458	0.84[EUR][1000 genomes]
rs8084445	0.84[EUR][1000 genomes]
rs8084557	0.86[EUR][1000 genomes]
rs8098010	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs35071785	HAUS1	cis	Nerve Tibial	GTEx
rs35071785	HAUS1	cis	Heart Left Ventricle	GTEx
rs35071785	HAUS1	cis	Muscle Skeletal	GTEx
rs35071785	HAUS1	cis	Artery Aorta	GTEx
rs35071785	HAUS1	cis	Artery Tibial	GTEx
rs35071785	HAUS1	cis	Thyroid	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43571400-43622000	Weak transcription	Gastric	stomach
2	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
3	chr18:43608800-43631800	Weak transcription	NHLF	lung
4	chr18:43608800-43632000	Weak transcription	Aorta	Aorta
5	chr18:43609000-43622200	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:43609000-43622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:43609000-43622200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr18:43609000-43622200	Weak transcription	Thymus	Thymus
9	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:43609800-43628000	Weak transcription	Fetal Intestine Small	intestine
12	chr18:43613200-43622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:43614800-43621800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:43615800-43622200	Weak transcription	Osteobl	bone
15	chr18:43616000-43622200	Weak transcription	NHDF-Ad	bronchial
16	chr18:43616000-43622400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:43617400-43631800	Weak transcription	Left Ventricle	heart
18	chr18:43617800-43621800	Weak transcription	Adipose Nuclei	Adipose
19	chr18:43618800-43631000	Weak transcription	Liver	Liver
20	chr18:43618800-43631400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:43619000-43621400	Enhancers	Spleen	Spleen
22	chr18:43619200-43623400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:43619400-43622000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:43619400-43622600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr18:43619400-43623800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:43619600-43622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:43619600-43623800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr18:43619800-43621400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr18:43619800-43623600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr18:43619800-43623800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr18:43619800-43623800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr18:43619800-43623800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr18:43620000-43623200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr18:43620000-43623400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr18:43620000-43623600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr18:43620000-43623800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr18:43620000-43623800	Enhancers	HMEC	breast
38	chr18:43620200-43621800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr18:43620200-43623600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr18:43620200-43623600	Enhancers	Dnd41	blood
41	chr18:43620200-43623800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr18:43620200-43636000	Weak transcription	Lung	lung
43	chr18:43620400-43621600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr18:43620400-43622200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr18:43620400-43623400	Enhancers	Primary hematopoietic stem cells	blood
46	chr18:43620400-43623400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr18:43620400-43623400	Enhancers	Fetal Thymus	thymus
48	chr18:43620400-43623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:43620400-43623600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr18:43620400-43623800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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