Variant report

Variant	rs34671855
Chromosome Location	chr2:149366385-149366386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:149359200..149362082-chr2:149364841..149366905,3	K562	blood:
2	chr2:149350840..149353957-chr2:149362704..149366658,3	MCF-7	breast:
3	chr2:149364293..149368189-chr2:149401143..149403866,4	K562	blood:
4	chr2:149364050..149366946-chr2:149371710..149373906,2	MCF-7	breast:
5	chr2:149363805..149366494-chr2:149401169..149403813,2	MCF-7	breast:
6	chr2:149365091..149367494-chr2:149401143..149403866,2	K562	blood:
7	chr2:149366286..149369702-chr2:149370979..149374487,6	K562	blood:

Variant related genes	Relation type
ENSG00000232238	Chromatin interaction
ENSG00000135999	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1020468	0.88[ASN][1000 genomes]
rs1031290	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10454124	0.91[ASN][1000 genomes]
rs10928404	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10928407	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12464036	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12468186	0.87[EUR][1000 genomes]
rs12472738	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12616115	0.88[EUR][1000 genomes]
rs12619201	0.88[ASN][1000 genomes]
rs12997473	0.83[EUR][1000 genomes]
rs12997838	0.86[EUR][1000 genomes]
rs13003132	0.87[EUR][1000 genomes]
rs13004738	0.90[ASN][1000 genomes]
rs13008203	0.85[EUR][1000 genomes]
rs13010027	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13029692	0.92[EUR][1000 genomes]
rs16828791	0.87[EUR][1000 genomes]
rs16828816	0.92[EUR][1000 genomes]
rs16828836	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16828954	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16828967	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16829006	0.88[ASN][1000 genomes]
rs16829034	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1809051	0.92[EUR][1000 genomes]
rs2382231	0.86[EUR][1000 genomes]
rs34324924	0.91[EUR][1000 genomes]
rs34881950	0.92[EUR][1000 genomes]
rs35057193	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35076661	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35154707	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35168772	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36067597	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4972375	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972380	0.88[ASN][1000 genomes]
rs4972381	0.88[ASN][1000 genomes]
rs4972383	0.91[ASN][1000 genomes]
rs6430323	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6709767	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6743835	0.87[ASN][1000 genomes]
rs6746352	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71413623	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs720844	0.91[ASN][1000 genomes]
rs7571333	0.88[ASN][1000 genomes]
rs7578059	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7590549	0.88[ASN][1000 genomes]
rs7597133	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7606475	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs930651	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs930652	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1827161	chr2:149352353-149475737	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149365600-149366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:149366000-149371000	Weak transcription	Placenta	Placenta
3	chr2:149366000-149371000	Weak transcription	Hela-S3	cervix

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