Variant report

Variant	rs72903405
Chromosome Location	chr18:43658665-43658666
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	POLR2A	chr18:43657064-43659053	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr18:43658122-43658694	HepG2	liver:	n/a	n/a
3	POLR2A	chr18:43658196-43658683	GM12878	blood:	n/a	n/a
4	POLR2A	chr18:43658256-43658699	GM12892	blood:	n/a	n/a
5	POLR2A	chr18:43656715-43660910	K562	blood:	n/a	n/a
6	POLR2A	chr18:43656846-43658696	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr18:43657270-43658739	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43653881..43655599-chr18:43657132..43659332,2	K562	blood:

Variant related genes	Relation type
ENSG00000252034	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs35071785	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41274316	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41274318	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55743028	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61261514	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs68059007	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72903407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903427	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72903432	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72903438	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903442	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903445	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72903447	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72903448	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72903449	0.90[EUR][1000 genomes]
rs72903451	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903452	0.90[EUR][1000 genomes]
rs72903454	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903458	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs8084445	0.90[EUR][1000 genomes]
rs8084557	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8095711	0.86[EUR][1000 genomes]
rs8098010	0.90[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs72903405	HAUS1	cis	Esophagus Muscularis	GTEx
rs72903405	HAUS1	cis	Heart Left Ventricle	GTEx
rs72903405	HAUS1	cis	Artery Aorta	GTEx
rs72903405	HAUS1	cis	Thyroid	GTEx
rs72903405	HAUS1	cis	Muscle Skeletal	GTEx
rs72903405	HAUS1	cis	Nerve Tibial	GTEx
rs72903405	HAUS1	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43652200-43659600	Weak transcription	Small Intestine	intestine
2	chr18:43652600-43660000	Weak transcription	Brain Angular Gyrus	brain
3	chr18:43652600-43662200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:43652600-43662600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:43652600-43663000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:43652600-43663200	Weak transcription	Esophagus	oesophagus
7	chr18:43652600-43665000	Weak transcription	Aorta	Aorta
8	chr18:43652800-43659000	Weak transcription	HUVEC	blood vessel
9	chr18:43652800-43659400	Weak transcription	Hela-S3	cervix
10	chr18:43652800-43662600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr18:43652800-43664000	Weak transcription	K562	blood
12	chr18:43653000-43658800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr18:43653000-43659000	Weak transcription	Fetal Intestine Large	intestine
14	chr18:43653000-43662600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr18:43653000-43663000	Weak transcription	Fetal Brain Male	brain
16	chr18:43653200-43659200	Weak transcription	NHDF-Ad	bronchial
17	chr18:43653200-43663200	Weak transcription	Psoas Muscle	Psoas
18	chr18:43653400-43663800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr18:43653600-43659000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr18:43653600-43659000	Weak transcription	HSMM	muscle
21	chr18:43653600-43659200	Weak transcription	Fetal Kidney	kidney
22	chr18:43653600-43659600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr18:43653600-43660400	Weak transcription	Lung	lung
24	chr18:43653600-43660400	Weak transcription	HepG2	liver
25	chr18:43653600-43661000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr18:43653600-43661200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:43653600-43662400	Weak transcription	Colonic Mucosa	Colon
28	chr18:43653600-43662600	Weak transcription	Ovary	ovary
29	chr18:43653600-43662600	Weak transcription	Right Ventricle	heart
30	chr18:43653600-43662800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr18:43653600-43662800	Weak transcription	Pancreas	Pancrea
32	chr18:43653600-43662800	Weak transcription	Spleen	Spleen
33	chr18:43653600-43663200	Weak transcription	Gastric	stomach
34	chr18:43653600-43665400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:43653600-43666200	Weak transcription	Stomach Mucosa	stomach
36	chr18:43653600-43669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr18:43653800-43659200	Weak transcription	Adipose Nuclei	Adipose
38	chr18:43653800-43659400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr18:43653800-43659600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr18:43653800-43659800	Weak transcription	Primary T cells from cord blood	blood
41	chr18:43653800-43659800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr18:43653800-43660000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr18:43653800-43660200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr18:43653800-43661400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr18:43653800-43662800	Weak transcription	Fetal Lung	lung
46	chr18:43653800-43663200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr18:43653800-43663400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr18:43654200-43658800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:43654200-43659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr18:43654200-43659800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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