Variant report

Variant	rs45580539
Chromosome Location	chr1:74848069-74848070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:74847175..74848707-chr1:74848769..74850609,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10159043	0.93[ASN][1000 genomes]
rs11210450	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12057537	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12098189	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1333031	0.93[ASN][1000 genomes]
rs1341577	0.93[ASN][1000 genomes]
rs1341578	0.93[ASN][1000 genomes]
rs1358375	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1417888	0.97[ASN][1000 genomes]
rs1417889	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095238	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765663	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3765666	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765667	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650255	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs484016	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs486784	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs489990	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs512920	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs518641	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56662872	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61776203	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6424579	0.93[ASN][1000 genomes]
rs699835	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7523296	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004451	chr1:74107125-74874389	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv534999	chr1:74107125-74874389	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1007414	chr1:74726454-74976335	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv535002	chr1:74726454-74976335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv870654	chr1:74762198-74858724	ZNF genes & repeats Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv461984	chr1:74804833-74874471	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv546577	chr1:74804833-74874471	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1002903	chr1:74831209-74993866	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74845200-74851000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:74845200-74860800	Weak transcription	Right Ventricle	heart
3	chr1:74846400-74849600	Weak transcription	Fetal Brain Female	brain
4	chr1:74846400-74849800	Weak transcription	Brain Germinal Matrix	brain
5	chr1:74847200-74848600	Enhancers	Fetal Heart	heart
6	chr1:74847400-74848400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:74847600-74848400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:74847600-74848600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:74847600-74851600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:74847800-74850800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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