Variant report

Variant	rs1333049
Chromosome Location	chr9:22125503-22125504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:21801068..21804766-chr9:22124826..22127661,4	MCF-7	breast:
2	chr9:22123237..22127319-chr9:22132072..22135694,5	MCF-7	breast:
3	chr9:22123972..22126695-chr9:22237756..22240192,3	MCF-7	breast:
4	chr9:22112229..22115017-chr9:22124442..22126062,2	MCF-7	breast:
5	chr9:22124882..22127392-chr9:22128921..22130490,2	MCF-7	breast:
6	chr9:22007027..22009439-chr9:22123072..22125624,2	MCF-7	breast:
7	chr9:22103351..22105009-chr9:22124811..22127367,2	MCF-7	breast:
8	chr9:22120411..22122460-chr9:22123757..22126512,2	MCF-7	breast:
9	chr9:22107525..22110347-chr9:22123401..22125908,2	MCF-7	breast:
10	chr9:22117582..22119733-chr9:22124572..22127238,3	MCF-7	breast:
11	chr9:22123951..22126513-chr9:22237605..22240050,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147883	Chromatin interaction
ENSG00000240498	Chromatin interaction
ENSG00000264545	Chromatin interaction
ENSG00000099810	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1004638	0.88[EUR][1000 genomes]
rs10116277	0.89[CEU][hapmap]
rs10217586	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10511701	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs10733376	0.88[EUR][1000 genomes]
rs10738606	0.89[EUR][1000 genomes]
rs10738607	0.89[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs10738608	0.84[EUR][1000 genomes]
rs10738609	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10738610	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10757272	0.89[CEU][hapmap];0.82[GIH][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs10757274	0.88[EUR][1000 genomes]
rs10757275	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10757277	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10757278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10757279	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10811654	0.86[EUR][1000 genomes]
rs10811656	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1333042	0.89[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs1333043	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs1333045	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1333046	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1333047	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1333048	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1412834	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs1537370	0.89[CEU][hapmap]
rs1537371	0.88[EUR][1000 genomes]
rs1537373	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs1537374	0.88[EUR][1000 genomes]
rs1537375	0.90[EUR][1000 genomes]
rs1537376	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1556516	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs1970112	0.81[EUR][1000 genomes]
rs2383206	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2383207	0.88[EUR][1000 genomes]
rs2891168	0.86[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs4977574	0.86[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs4977575	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4977757	0.82[EUR][1000 genomes]
rs6475606	0.89[CEU][hapmap]
rs6475609	0.86[EUR][1000 genomes]
rs7341786	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs7341791	0.87[EUR][1000 genomes]
rs7857118	0.90[EUR][1000 genomes]
rs7859362	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs7859727	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs944797	0.88[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	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1029889	chr9:22118046-22161828	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

Variant related diseases (count:8)

Disease	PMID	Source
Coronary artery disease or large artery stroke	24262325	GWAS catalog
Coronary artery disease or ischemic stroke	24262325	GWAS catalog
Coronary artery disease	24262325	GWAS catalog
Coronary heart disease	17634449	GWAS catalog
Coronary heart disease	21606135	GWAS catalog
Coronary heart disease	17554300	GWAS catalog
Coronary artery calcification	22144573	GWAS catalog
Coronary heart disease	21626137	GWAS catalog

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22119000-22128200	Weak transcription	HSMMtube	muscle
2	chr9:22119800-22129000	Weak transcription	HMEC	breast
3	chr9:22120000-22129200	Weak transcription	Stomach Mucosa	stomach
4	chr9:22123400-22126200	Enhancers	Fetal Intestine Small	intestine
5	chr9:22124800-22126200	Enhancers	Hela-S3	cervix
6	chr9:22124800-22128600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:22125000-22127400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:22125000-22128400	Weak transcription	NH-A	brain
9	chr9:22125000-22129000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:22125200-22126200	Strong transcription	A549	lung
11	chr9:22125200-22128200	Weak transcription	HUVEC	blood vessel
12	chr9:22125200-22128600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:22125200-22128800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:22125200-22129000	Weak transcription	HSMM	muscle

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