Variant report

Variant	rs4604657
Chromosome Location	chr1:180100987-180100988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180100009..180102157-chr1:180137696..180140629,2	MCF-7	breast:
2	chr1:180098705..180101372-chr1:180105512..180107387,2	MCF-7	breast:
3	chr1:180097431..180099161-chr1:180099863..180102182,2	K562	blood:
4	chr1:180094976..180098396-chr1:180099565..180103492,4	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11810556	0.88[ASN][1000 genomes]
rs12091685	0.95[ASN][1000 genomes]
rs12094391	0.96[ASN][1000 genomes]
rs17371566	0.86[ASN][1000 genomes]
rs2319677	0.87[EUR][1000 genomes]
rs3753814	0.80[ASN][1000 genomes]
rs4147170	0.90[EUR][1000 genomes]
rs4147171	0.90[EUR][1000 genomes]
rs4622030	0.86[EUR][1000 genomes]
rs4652470	0.94[ASN][1000 genomes]
rs4652476	0.91[ASN][1000 genomes]
rs55953436	1.00[ASN][1000 genomes]
rs55971224	0.99[ASN][1000 genomes]
rs56279106	0.96[ASN][1000 genomes]
rs59235710	0.83[ASN][1000 genomes]
rs6425606	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6425607	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6682558	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72710681	0.89[ASN][1000 genomes]
rs7518534	0.89[ASN][1000 genomes]
rs7545835	0.93[ASN][1000 genomes]
rs7547954	0.99[ASN][1000 genomes]
rs7548486	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180086600-180102400	Weak transcription	Pancreas	Pancrea
2	chr1:180096000-180102400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:180099400-180103800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:180099800-180103000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:180100000-180101400	Enhancers	NHDF-Ad	bronchial
6	chr1:180100000-180101600	Enhancers	Osteobl	bone
7	chr1:180100000-180101800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:180100000-180101800	Enhancers	NHLF	lung
9	chr1:180100200-180101400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:180100200-180101400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:180100200-180101600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:180100200-180102600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr1:180100400-180101000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:180100400-180101400	Enhancers	HUVEC	blood vessel
15	chr1:180100600-180101000	Enhancers	HepG2	liver
16	chr1:180100600-180101200	Enhancers	NH-A	brain
17	chr1:180100800-180101200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:180100800-180101400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:180100800-180101400	Enhancers	K562	blood
20	chr1:180100800-180101800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:180100800-180101800	Active TSS	Primary B cells from cord blood	blood
22	chr1:180100800-180102000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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