Variant report

Variant	rs4303813
Chromosome Location	chr22:33046628-33046629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32969893..32972512-chr22:33046194..33048392,2	MCF-7	breast:
2	chr22:33040520..33042023-chr22:33043962..33046745,2	MCF-7	breast:
3	chr22:33046400..33048228-chr22:33051027..33052657,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1012366	0.84[CEU][hapmap];0.90[CHB][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3788470	0.84[CEU][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3788472	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3827337	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4373007	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749479	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5749480	0.85[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5754185	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5754186	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5754188	0.81[GIH][hapmap]
rs5754189	0.84[CEU][hapmap];0.90[CHB][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5754190	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs717168	0.84[CEU][hapmap];0.90[CHB][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs717169	0.91[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs762899	0.84[CEU][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4303813	HSCB	cis	parietal	SCAN
rs4303813	TBC1D10A	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33040800-33053400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:33040800-33054400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:33041800-33050000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:33044400-33047400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr22:33044600-33047400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:33044600-33047600	Enhancers	HSMMtube	muscle
7	chr22:33044800-33046800	Enhancers	Osteobl	bone
8	chr22:33044800-33047200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:33044800-33047200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr22:33044800-33047200	Enhancers	HSMM	muscle
11	chr22:33044800-33047800	Enhancers	K562	blood
12	chr22:33045000-33047000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr22:33045000-33047000	Enhancers	NHDF-Ad	bronchial
14	chr22:33045000-33047400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:33045000-33047600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:33045200-33047200	Enhancers	NHLF	lung
17	chr22:33045800-33048200	Weak transcription	Fetal Lung	lung
18	chr22:33046400-33046800	Enhancers	Placenta	Placenta
19	chr22:33046600-33047400	Enhancers	Fetal Muscle Leg	muscle
20	chr22:33046600-33047800	Weak transcription	Fetal Stomach	stomach

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