Variant report

Variant	rs12407613
Chromosome Location	chr1:186181622-186181623
allele	A/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:185967238..185968214-chr1:186181474..186182740,8	MCF-7	breast:
2	chr1:185689440..185690198-chr1:186181442..186182506,4	MCF-7	breast:
3	chr1:185689564..185690516-chr1:186181513..186182292,3	MCF-7	breast:
4	chr1:185782255..185783272-chr1:186181370..186182154,4	MCF-7	breast:
5	chr1:185782229..185782806-chr1:186181471..186182170,3	K562	blood:
6	chr1:186163396..186166003-chr1:186180456..186181975,2	K562	blood:
7	chr1:186124449..186125420-chr1:186181461..186182598,6	MCF-7	breast:
8	chr1:186124541..186125379-chr1:186181423..186182257,5	MCF-7	breast:
9	chr1:185649957..185650829-chr1:186181415..186182551,4	MCF-7	breast:
10	chr1:185967197..185968048-chr1:186181571..186182366,3	MCF-7	breast:
11	chr1:185689629..185690434-chr1:186181457..186182167,3	K562	blood:
12	chr1:186177265..186179469-chr1:186180273..186181904,2	MCF-7	breast:
13	chr1:185966106..185968754-chr1:186180743..186183363,2	MCF-7	breast:
14	chr1:185702828..185703339-chr1:186181550..186182148,2	MCF-7	breast:
15	chr1:185689319..185692155-chr1:186180753..186183476,2	MCF-7	breast:

No data

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12408916	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408923	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61829757	1.00[ASN][1000 genomes]
rs61829758	1.00[ASN][1000 genomes]
rs61829759	1.00[ASN][1000 genomes]
rs61831060	1.00[ASN][1000 genomes]
rs61831061	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831062	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831063	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831064	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831065	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831066	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831067	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61831068	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61831093	0.83[EUR][1000 genomes]
rs61831094	0.89[EUR][1000 genomes]
rs61831096	0.91[EUR][1000 genomes]
rs61831097	0.91[EUR][1000 genomes]
rs61831099	0.91[EUR][1000 genomes]
rs61831145	0.80[EUR][1000 genomes]
rs6656441	1.00[ASN][1000 genomes]
rs6656648	1.00[ASN][1000 genomes]
rs6656651	1.00[ASN][1000 genomes]
rs6656820	1.00[ASN][1000 genomes]
rs6666859	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72711760	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711761	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711763	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1007237	chr1:186137724-186226502	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1009149	chr1:186147945-186206188	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1002503	chr1:186156060-186206188	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1003070	chr1:186157240-186202008	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1010055	chr1:186167933-186216740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv1009057	chr1:186171374-186203808	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1009983	chr1:186171374-186206188	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1009827	chr1:186171374-186216740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv1008469	chr1:186171374-186226502	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv998436	chr1:186171719-186206188	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv1012840	chr1:186172843-186216740	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv1002201	chr1:186173178-186204057	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv1014789	chr1:186178238-186223721	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186161800-186182000	Weak transcription	Aorta	Aorta
2	chr1:186178000-186182200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:186178200-186182800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:186178400-186182000	Weak transcription	NHLF	lung
5	chr1:186178400-186183000	Weak transcription	NHEK	skin
6	chr1:186181400-186181800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr1:186181400-186181800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:186181400-186182000	Enhancers	HUVEC	blood vessel
9	chr1:186181600-186181800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:186181600-186181800	Enhancers	Adipose Nuclei	Adipose
11	chr1:186181600-186182000	Enhancers	Fetal Lung	lung
12	chr1:186181600-186182200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:186181600-186182200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:186181600-186182200	Enhancers	A549	lung
15	chr1:186181600-186182200	Enhancers	NHDF-Ad	bronchial
16	chr1:186181600-186183600	Enhancers	HMEC	breast
17	chr1:186181600-186184600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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