Variant report

Variant	rs72903448
Chromosome Location	chr18:43684110-43684111
allele	C/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	POLR2A	chr18:43684047-43685014	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr18:43684056-43684902	Hela-S3	cervix:	n/a	n/a
3	TAF1	chr18:43684000-43684921	H1-hESC	embryonic stem cell:	n/a	n/a
4	WRNIP1	chr18:43684072-43684402	GM12878	blood:	n/a	n/a
5	CHD2	chr18:43684102-43684712	Hela-S3	cervix:	n/a	chr18:43684362-43684372
6	EGR1	chr18:43684101-43684504	K562	blood:	n/a	chr18:43684303-43684313 chr18:43684458-43684467
7	IRF1	chr18:43683892-43684570	K562	blood:	n/a	chr18:43684302-43684316 chr18:43684074-43684088
8	SIN3AK20	chr18:43684056-43684949	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr18:43684104-43684714	HUVEC	blood vessel:	n/a	n/a
10	ZNF143	chr18:43683996-43684576	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr18:43684004-43684903	NB4	blood:	n/a	chr18:43684303-43684313
12	MAX	chr18:43683884-43684740	A549	lung:	n/a	chr18:43684303-43684313
13	E2F6	chr18:43684017-43684624	K562	blood:	n/a	chr18:43684412-43684424 chr18:43684149-43684160
14	POLR2A	chr18:43684007-43684960	MCF10A-Er-Src	breast:	n/a	n/a
15	SIX5	chr18:43684037-43684482	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr18:43683868-43684689	U87	brain:	n/a	n/a
17	E2F6	chr18:43684036-43684451	K562	blood:	n/a	chr18:43684412-43684424 chr18:43684149-43684160
18	HCFC1	chr18:43684013-43685024	K562	blood:	n/a	n/a
19	RELA	chr18:43684088-43684892	GM15510	blood:	n/a	n/a
20	TAF1	chr18:43684070-43684799	SK-N-SH	brain:	n/a	n/a
21	TBP	chr18:43684056-43684978	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr18:43683911-43684903	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr18:43684070-43684549	HCT-116	colon:	n/a	n/a
24	POLR2A	chr18:43683912-43685025	PBDE	blood:	n/a	n/a
25	TBP	chr18:43684031-43684956	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr18:43684096-43684793	GM12891	blood:	n/a	n/a
27	FOXP2	chr18:43684075-43684408	SK-N-MC	brain:	n/a	n/a
28	YY1	chr18:43684065-43684673	GM12878	blood:	n/a	n/a
29	POLR2A	chr18:43684084-43684824	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr18:43684066-43684991	H1-neurons	neurons:	n/a	n/a
31	GABPA	chr18:43684069-43684942	MCF-7	breast:	n/a	chr18:43684303-43684312
32	E2F6	chr18:43683841-43684770	H1-hESC	embryonic stem cell:	n/a	chr18:43684412-43684424 chr18:43684149-43684160
33	EP300	chr18:43684064-43684450	K562	blood:	n/a	chr18:43684067-43684081
34	PAX5	chr18:43684080-43684475	GM12878	blood:	n/a	n/a
35	POLR2A	chr18:43684100-43684954	PANC-1	pancreas:	n/a	n/a
36	HCFC1	chr18:43683835-43685318	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr18:43683997-43684767	HepG2	liver:	n/a	n/a
38	POLR2A	chr18:43684041-43684847	GM15510	blood:	n/a	n/a
39	POLR2A	chr18:43683998-43684931	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr18:43684067-43684564	K562	blood:	n/a	n/a
41	UBTF	chr18:43684067-43684951	K562	blood:	n/a	n/a
42	ZMIZ1	chr18:43684044-43684509	K562	blood:	n/a	n/a
43	YY1	chr18:43684090-43684405	GM12891	blood:	n/a	n/a
44	POLR2A	chr18:43684043-43684758	GM12878	blood:	n/a	n/a
45	POLR2A	chr18:43684066-43684883	GM18526	blood:	n/a	n/a
46	POLR2A	chr18:43683997-43684886	Raji	blood:	n/a	n/a
47	MYC	chr18:43684053-43684752	NB4	blood:	n/a	chr18:43684303-43684313
48	POLR2A	chr18:43684092-43684906	GM18951	blood:	n/a	n/a
49	ZNF143	chr18:43684004-43684971	GM12878	blood:	n/a	chr18:43684738-43684756
50	POLR2A	chr18:43684087-43684211	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:43677240..43681670-chr18:43684014..43685946,4	K562	blood:
2	chr18:43676160..43680812-chr18:43682051..43685941,8	K562	blood:
3	chr18:43676858..43680433-chr18:43682158..43685518,5	MCF-7	breast:

Variant related genes	Relation type
HAUS1	TF binding region
ATP5A1	TF binding region
ENSG00000152234	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs2289264	1.00[ASN][1000 genomes]
rs28391547	1.00[ASN][1000 genomes]
rs28432272	1.00[ASN][1000 genomes]
rs28457629	1.00[ASN][1000 genomes]
rs28528989	1.00[ASN][1000 genomes]
rs28642893	1.00[ASN][1000 genomes]
rs35071785	0.84[EUR][1000 genomes]
rs41274316	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs41274318	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs55743028	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs61261514	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs68059007	0.86[EUR][1000 genomes]
rs72903405	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72903407	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72903427	0.90[EUR][1000 genomes]
rs72903432	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72903438	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903442	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903449	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903451	0.98[EUR][1000 genomes]
rs72903452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903454	0.98[EUR][1000 genomes]
rs72903458	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73438301	1.00[ASN][1000 genomes]
rs8084445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8084557	0.98[EUR][1000 genomes]
rs8095711	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944600	1.00[ASN][1000 genomes]
rs9951642	1.00[ASN][1000 genomes]
rs9954430	1.00[ASN][1000 genomes]
rs9957650	1.00[ASN][1000 genomes]
rs9964286	1.00[ASN][1000 genomes]
rs9965475	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	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs72903448	HAUS1	cis	Artery Aorta	GTEx
rs72903448	HAUS1	cis	Muscle Skeletal	GTEx
rs72903448	HAUS1	cis	Artery Tibial	GTEx
rs72903448	HAUS1	cis	Nerve Tibial	GTEx
rs72903448	HAUS1	cis	Heart Left Ventricle	GTEx
rs72903448	HAUS1	cis	Thyroid	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43678800-43684400	Weak transcription	Spleen	Spleen
2	chr18:43679000-43684200	Weak transcription	Placenta	Placenta
3	chr18:43683800-43684200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr18:43683800-43684200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr18:43683800-43684200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr18:43683800-43684200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr18:43683800-43684200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:43683800-43684200	Flanking Active TSS	Fetal Kidney	kidney
9	chr18:43683800-43684200	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr18:43683800-43684200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr18:43683800-43684200	Flanking Active TSS	Dnd41	blood
12	chr18:43683800-43684200	Flanking Active TSS	HepG2	liver
13	chr18:43683800-43684400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr18:43683800-43684400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr18:43683800-43684800	Active TSS	Brain Angular Gyrus	brain
16	chr18:43683800-43685000	Active TSS	Brain Substantia Nigra	brain
17	chr18:43683800-43685200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:43683800-43685400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr18:43683800-43685400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr18:43683800-43685400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:43683800-43685400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:43683800-43685400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr18:43683800-43685400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:43683800-43685400	Active TSS	NHDF-Ad	bronchial
25	chr18:43683800-43685600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:43683800-43685600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr18:43683800-43685600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr18:43683800-43685800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:43683800-43685800	Active TSS	Brain Germinal Matrix	brain
30	chr18:43684000-43684200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:43684000-43684200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:43684000-43684200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr18:43684000-43684200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr18:43684000-43684200	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr18:43684000-43684200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr18:43684000-43684200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr18:43684000-43684200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr18:43684000-43684200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:43684000-43684200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr18:43684000-43684200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr18:43684000-43684200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:43684000-43684200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr18:43684000-43684200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr18:43684000-43684200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:43684000-43684200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr18:43684000-43684200	Flanking Active TSS	Liver	Liver
47	chr18:43684000-43684200	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr18:43684000-43684200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr18:43684000-43684200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr18:43684000-43684200	Flanking Active TSS	Fetal Lung	lung

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