Variant report

Variant	rs72903438
Chromosome Location	chr18:43679109-43679110
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	chr18:43677437-43679245	Raji	blood:	n/a	n/a
2	MAZ	chr18:43679072-43679178	GM12878	blood:	n/a	n/a
3	POLR2A	chr18:43677692-43679148	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr18:43679056-43679166	GM12878	blood:	n/a	n/a
5	MYC	chr18:43677951-43679132	MCF10A-Er-Src	breast:	n/a	chr18:43678507-43678520 chr18:43678508-43678519 chr18:43678509-43678519 chr18:43678509-43678519 chr18:43678507-43678522 chr18:43678508-43678519 chr18:43678346-43678356 chr18:43678508-43678518 chr18:43678509-43678518 chr18:43678508-43678517
6	POLR2A	chr18:43676901-43679164	GM12891	blood:	n/a	n/a
7	HCFC1	chr18:43676574-43679241	Hela-S3	cervix:	n/a	n/a
8	ZNF384	chr18:43679032-43679370	K562	blood:	n/a	n/a
9	POLR2A	chr18:43677283-43679302	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr18:43676959-43679418	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr18:43678350-43679145	MCF10A-Er-Src	breast:	n/a	chr18:43678507-43678520 chr18:43678508-43678519 chr18:43678509-43678519 chr18:43678509-43678519 chr18:43678507-43678522 chr18:43678508-43678519 chr18:43678508-43678518 chr18:43678509-43678518 chr18:43678508-43678517
12	MXI1	chr18:43676668-43679292	SK-N-SH	brain:	n/a	chr18:43678508-43678517 chr18:43678295-43678304 chr18:43677214-43677229 chr18:43678510-43678519

No.	Distal block	Cell Line	Cell type
1	chr18:43676160..43680812-chr18:43682051..43685941,8	K562	blood:
2	chr18:43677240..43681670-chr18:43684014..43685946,4	K562	blood:
3	chr18:43676858..43680433-chr18:43682158..43685518,5	MCF-7	breast:
4	chr18:43671592..43673196-chr18:43677862..43679768,2	MCF-7	breast:

Variant related genes	Relation type
ATP5A1	TF binding region
ENSG00000152234	Chromatin interaction
ENSG00000152240	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	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs41274316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41274318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55743028	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61261514	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68059007	0.88[EUR][1000 genomes]
rs72903405	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903407	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903427	0.93[EUR][1000 genomes]
rs72903432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72903442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903445	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903447	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903448	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903449	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903452	0.98[EUR][1000 genomes]
rs72903454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903458	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8084445	0.98[EUR][1000 genomes]
rs8084557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8095711	0.93[EUR][1000 genomes]
rs8098010	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
rs72903438	HAUS1	cis	Thyroid	GTEx
rs72903438	HAUS1	cis	Heart Left Ventricle	GTEx
rs72903438	HAUS1	cis	Artery Aorta	GTEx
rs72903438	HAUS1	cis	Nerve Tibial	GTEx
rs72903438	HAUS1	cis	Muscle Skeletal	GTEx
rs72903438	HAUS1	cis	Artery Tibial	GTEx
rs72903438	HAUS1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43676400-43679200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr18:43676600-43679200	Active TSS	Fetal Kidney	kidney
3	chr18:43678400-43679200	Weak transcription	Small Intestine	intestine
4	chr18:43678400-43679200	Flanking Active TSS	Dnd41	blood
5	chr18:43678600-43679200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:43678600-43679200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr18:43678600-43679200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr18:43678600-43679200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr18:43678600-43679200	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr18:43678600-43679200	Flanking Active TSS	Fetal Brain Male	brain
11	chr18:43678600-43684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr18:43678800-43679200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr18:43678800-43679200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:43678800-43679200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:43678800-43679200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr18:43678800-43679200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:43678800-43679200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:43678800-43679200	Enhancers	Primary B cells from cord blood	blood
19	chr18:43678800-43679200	Enhancers	Primary B cells from peripheral blood	blood
20	chr18:43678800-43679200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr18:43678800-43679200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr18:43678800-43679200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr18:43678800-43679200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr18:43678800-43679200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr18:43678800-43679200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:43678800-43679200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr18:43678800-43679200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr18:43678800-43679200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:43678800-43679200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr18:43678800-43679200	Enhancers	Duodenum Mucosa	Duodenum
31	chr18:43678800-43679200	Enhancers	Fetal Intestine Large	intestine
32	chr18:43678800-43679200	Enhancers	Fetal Lung	lung
33	chr18:43678800-43679200	Enhancers	Rectal Smooth Muscle	rectum
34	chr18:43678800-43679200	Flanking Active TSS	HepG2	liver
35	chr18:43678800-43679200	Flanking Active TSS	K562	blood
36	chr18:43678800-43679200	Enhancers	NH-A	brain
37	chr18:43678800-43679200	Enhancers	NHEK	skin
38	chr18:43678800-43679400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr18:43678800-43679400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:43678800-43683600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr18:43678800-43683800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr18:43678800-43683800	Weak transcription	Colonic Mucosa	Colon
43	chr18:43678800-43683800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr18:43678800-43684000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:43678800-43684000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr18:43678800-43684000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr18:43678800-43684000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr18:43678800-43684000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr18:43678800-43684000	Weak transcription	Thymus	Thymus
50	chr18:43678800-43684400	Weak transcription	Spleen	Spleen

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