Variant report

Variant	rs825148
Chromosome Location	chr1:223595240-223595241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223595218..223598867-chr1:223599008..223602408,5	K562	blood:
2	chr1:223585376..223587984-chr1:223593733..223596236,2	MCF-7	breast:
3	chr1:223566045..223568415-chr1:223593690..223595373,2	MCF-7	breast:
4	chr1:223594003..223597385-chr1:223616098..223619072,3	MCF-7	breast:
5	chr1:223566366..223568039-chr1:223593781..223595649,2	MCF-7	breast:
6	chr1:223306620..223308748-chr1:223595185..223597717,2	MCF-7	breast:
7	chr1:223589830..223593487-chr1:223595187..223598316,3	K562	blood:

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction
ENSG00000178395	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10907375	0.80[CHB][hapmap]
rs11261269	0.86[EUR][1000 genomes]
rs11579995	0.90[CHB][hapmap]
rs12064476	0.90[CHB][hapmap]
rs12074782	0.90[CHB][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap]
rs12082133	0.90[CHB][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap]
rs12087387	0.86[EUR][1000 genomes]
rs12094897	0.80[CHB][hapmap];0.81[GIH][hapmap]
rs12405882	0.82[EUR][1000 genomes]
rs1400964	0.80[CHB][hapmap];0.81[GIH][hapmap]
rs1619161	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713213	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1772288	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1772289	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1819706	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1914612	0.81[GIH][hapmap]
rs2298063	0.90[CHB][hapmap]
rs2353204	0.86[EUR][1000 genomes]
rs2678369	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678370	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34070817	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35345617	0.80[CHB][hapmap];0.81[GIH][hapmap]
rs35727959	0.80[CHB][hapmap];0.81[GIH][hapmap]
rs35996176	0.80[CHB][hapmap]
rs59584296	0.86[EUR][1000 genomes]
rs6679661	0.90[CHB][hapmap]
rs6682552	0.80[CHB][hapmap]
rs6689850	0.90[CHB][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap]
rs6701453	0.88[CHB][hapmap]
rs825136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825137	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825141	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs825142	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs825143	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs825144	0.88[ASN][1000 genomes]
rs825145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs825146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs866637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223592400-223596000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:223592600-223597400	Weak transcription	Right Ventricle	heart
3	chr1:223594400-223595600	Enhancers	HMEC	breast
4	chr1:223594600-223595800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:223594600-223595800	Enhancers	NHEK	skin
6	chr1:223594600-223596000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:223594600-223597800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:223594800-223596400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:223594800-223600600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:223595000-223597000	Weak transcription	Left Ventricle	heart
11	chr1:223595000-223597000	Weak transcription	Ovary	ovary
12	chr1:223595200-223596200	Weak transcription	Stomach Mucosa	stomach
13	chr1:223595200-223596200	Weak transcription	HSMMtube	muscle
14	chr1:223595200-223596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:223595200-223596400	Weak transcription	Gastric	stomach
16	chr1:223595200-223596400	Weak transcription	Pancreas	Pancrea
17	chr1:223595200-223597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:223595200-223597200	Weak transcription	Fetal Heart	heart
19	chr1:223595200-223599000	Weak transcription	Esophagus	oesophagus
20	chr1:223595200-223609200	Weak transcription	Right Atrium	heart

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