Variant report

Variant	rs2630539
Chromosome Location	chr2:180707298-180707299
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:180697026..180699896-chr2:180705650..180708149,2	MCF-7	breast:
2	chr2:180707046..180707794-chr2:180801109..180802085,4	MCF-7	breast:
3	chr2:180706168..180708341-chr2:180711093..180713264,3	K562	blood:
4	chr2:180707129..180707861-chr2:180763387..180764295,2	K562	blood:
5	chr2:180706972..180707878-chr2:180763320..180764150,2	MCF-7	breast:
6	chr2:180706968..180707872-chr2:180831565..180832499,2	MCF-7	breast:
7	chr2:180707163..180707821-chr2:180941894..180942731,3	MCF-7	breast:
8	chr2:180707295..180707909-chr2:180763473..180764251,2	MCF-7	breast:

No data

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10930887	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12328338	0.96[ASN][1000 genomes]
rs1352111	0.92[EUR][1000 genomes]
rs1383413	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1383414	0.81[EUR][1000 genomes]
rs1486233	0.96[ASN][1000 genomes]
rs165373	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs165374	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs165379	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs165380	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs165381	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867045	0.87[ASN][1000 genomes]
rs187745	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs194674	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2170240	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2219670	0.96[ASN][1000 genomes]
rs2367797	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs259833	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs259849	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28520865	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs357711	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs357712	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56152328	0.91[ASN][1000 genomes]
rs6433810	0.86[ASN][1000 genomes]
rs6433811	0.90[ASN][1000 genomes]
rs6725456	0.81[EUR][1000 genomes]
rs6752731	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7557122	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7597666	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180703400-180707400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:180706400-180707400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:180706800-180724800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:180707200-180707600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:180707200-180707800	Enhancers	Liver	Liver

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