Variant report

Variant	rs4743150
Chromosome Location	chr9:100740124-100740125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
2	chr9:100739257..100741486-chr9:100821509..100823548,2	K562	blood:
3	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
4	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136929	Chromatin interaction
ENSG00000201830	Chromatin interaction
ENSG00000136932	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1059273	0.80[CEU][hapmap]
rs12001675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12554172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16912622	0.80[CEU][hapmap];0.81[GIH][hapmap]
rs3739672	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4742711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4742716	0.80[CEU][hapmap]
rs4743151	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743157	0.80[CEU][hapmap];0.87[MEX][hapmap]
rs4743158	0.80[CEU][hapmap]
rs6478522	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6478539	0.80[CEU][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap]
rs6478556	0.80[CEU][hapmap];0.81[GIH][hapmap]
rs7019033	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7020081	0.80[CEU][hapmap]
rs7041878	0.86[ASN][1000 genomes]
rs7850685	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7852752	0.89[CHB][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap]
rs7855432	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7869762	0.80[CEU][hapmap];0.93[MEX][hapmap]
rs874610	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs957955	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893612	chr9:100732802-100754703	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Coronary heart disease	21378988	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4743150	HIATL1	cis	cerebellum	SCAN
rs4743150	C9orf156	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100733200-100741400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr9:100734600-100741000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr9:100734800-100740800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:100734800-100741000	Weak transcription	Fetal Thymus	thymus
5	chr9:100734800-100741000	Weak transcription	Thymus	Thymus
6	chr9:100734800-100741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:100735800-100744800	Weak transcription	Right Atrium	heart
8	chr9:100736000-100743400	Weak transcription	Dnd41	blood
9	chr9:100738200-100742600	Weak transcription	NHDF-Ad	bronchial
10	chr9:100739000-100741000	Weak transcription	K562	blood

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