Variant report

Variant	rs4243278
Chromosome Location	chr18:43707880-43707881
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	chr18:43705752..43708889-chr18:43751231..43755049,3	K562	blood:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12604134	0.91[ASN][1000 genomes]
rs12606184	0.91[ASN][1000 genomes]
rs12607480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12954742	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs12959543	0.91[ASN][1000 genomes]
rs12959827	0.87[ASN][1000 genomes]
rs12963169	0.95[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs1620584	0.81[ASN][1000 genomes]
rs1658908	0.87[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1791400	0.81[ASN][1000 genomes]
rs1791407	0.87[CHB][hapmap]
rs1791413	0.87[CHB][hapmap]
rs1791414	0.87[CHB][hapmap]
rs1866321	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs1866322	0.91[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs2467669	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2515639	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2578187	0.86[CHB][hapmap];0.87[GIH][hapmap]
rs2578188	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2578189	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2578190	0.82[ASN][1000 genomes]
rs2578193	0.82[ASN][1000 genomes]
rs28497462	0.90[ASN][1000 genomes]
rs2850644	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2852362	0.81[ASN][1000 genomes]
rs2852363	0.82[ASN][1000 genomes]
rs2853801	0.82[ASN][1000 genomes]
rs2853802	0.82[ASN][1000 genomes]
rs28715068	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28768435	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28805990	0.82[ASN][1000 genomes]
rs28809822	0.87[ASN][1000 genomes]
rs35122885	0.81[ASN][1000 genomes]
rs35338711	0.90[ASN][1000 genomes]
rs3744992	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3753069	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs4260155	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4274509	0.87[CHB][hapmap]
rs474878	0.82[ASN][1000 genomes]
rs4890313	0.86[CHB][hapmap]
rs4890617	0.82[CHB][hapmap]
rs4890618	0.82[CHB][hapmap]
rs4890619	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs4890620	0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs4890624	0.82[ASN][1000 genomes]
rs4890625	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59082804	0.83[ASN][1000 genomes]
rs71364518	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7226736	0.90[ASN][1000 genomes]
rs7226742	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs7228642	0.83[ASN][1000 genomes]
rs7229971	0.99[ASN][1000 genomes]
rs7230180	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7233665	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7242845	0.87[ASN][1000 genomes]
rs7244632	0.85[ASN][1000 genomes]
rs8083916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8085233	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs8085773	0.82[ASN][1000 genomes]
rs8088422	0.84[ASN][1000 genomes]
rs8089015	0.81[ASN][1000 genomes]
rs8096256	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs8096643	0.91[ASN][1000 genomes]
rs9946831	0.95[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap]
rs9950234	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs9950343	0.86[CHB][hapmap]
rs9954133	0.90[ASN][1000 genomes]
rs9955008	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs9956803	0.86[CHB][hapmap]
rs9965365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9965812	0.87[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs9966603	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4243278	HAUS1	cis	cerebellum	SCAN
rs4243278	IER3IP1	cis	cerebellum	SCAN
rs4243278	HAUS1	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685000-43709000	Weak transcription	Pancreas	Pancrea
2	chr18:43685200-43709000	Weak transcription	Right Ventricle	heart
3	chr18:43685200-43712600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:43685200-43712600	Weak transcription	Stomach Mucosa	stomach
5	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:43685400-43708200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr18:43685400-43709800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:43685400-43710600	Weak transcription	Colonic Mucosa	Colon
10	chr18:43685400-43711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr18:43685400-43711600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr18:43685400-43714800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr18:43685400-43714800	Weak transcription	NHDF-Ad	bronchial
14	chr18:43685400-43717200	Weak transcription	HepG2	liver
15	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
17	chr18:43686000-43710200	Weak transcription	NHEK	skin
18	chr18:43686400-43711400	Weak transcription	Fetal Brain Male	brain
19	chr18:43686600-43708200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr18:43690000-43715600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr18:43693200-43711000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:43693200-43712200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:43693400-43710400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr18:43693800-43710200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr18:43694200-43709600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr18:43694200-43713600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr18:43694200-43714000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:43694200-43715600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:43694600-43717400	Weak transcription	Brain Anterior Caudate	brain
30	chr18:43694800-43708800	Weak transcription	Lung	lung
31	chr18:43694800-43709600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:43695000-43714800	Weak transcription	HSMMtube	muscle
33	chr18:43695000-43715200	Weak transcription	K562	blood
34	chr18:43695200-43712400	Weak transcription	HMEC	breast
35	chr18:43695200-43712800	Weak transcription	A549	lung
36	chr18:43699200-43711000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr18:43699400-43710400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr18:43699600-43710400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr18:43699600-43711800	Strong transcription	Fetal Thymus	thymus
40	chr18:43699600-43712200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:43700200-43711400	Weak transcription	Hela-S3	cervix
42	chr18:43700400-43710800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:43700400-43712200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr18:43700600-43710200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr18:43700600-43711200	Strong transcription	Dnd41	blood
46	chr18:43700600-43711600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr18:43700600-43712200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:43700800-43711000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr18:43700800-43711800	Strong transcription	Thymus	Thymus
50	chr18:43700800-43712000	Strong transcription	Primary T cells fromperipheralblood	blood

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