Variant report

Variant	rs1031290
Chromosome Location	chr2:149367295-149367296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:149366818..149368565-chr2:149369705..149372516,2	MCF-7	breast:
2	chr2:149364293..149368189-chr2:149401143..149403866,4	K562	blood:
3	chr2:149365091..149367494-chr2:149401143..149403866,2	K562	blood:
4	chr2:149366286..149369702-chr2:149370979..149374487,6	K562	blood:

Variant related genes	Relation type
ENSG00000135999	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1020468	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10454124	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10928404	0.84[ASN][1000 genomes]
rs10928407	0.87[ASN][1000 genomes]
rs12464036	1.00[ASN][1000 genomes]
rs12472738	0.92[ASN][1000 genomes]
rs12619201	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13004738	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13010027	0.87[ASN][1000 genomes]
rs16828836	0.83[ASN][1000 genomes]
rs16828954	0.87[ASN][1000 genomes]
rs16828967	0.87[ASN][1000 genomes]
rs16829006	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16829034	0.90[ASN][1000 genomes]
rs16829057	0.91[JPT][hapmap]
rs34671855	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35057193	0.87[ASN][1000 genomes]
rs35076661	0.85[ASN][1000 genomes]
rs35154707	0.84[ASN][1000 genomes]
rs35168772	0.90[ASN][1000 genomes]
rs36067597	0.84[ASN][1000 genomes]
rs4972285	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4972369	0.85[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs4972375	0.87[ASN][1000 genomes]
rs4972380	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972381	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972383	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6430323	0.84[ASN][1000 genomes]
rs6709767	0.87[ASN][1000 genomes]
rs6743835	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6746352	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6761549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs71413623	0.87[ASN][1000 genomes]
rs720844	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7571333	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7578059	0.84[ASN][1000 genomes]
rs7590549	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7597133	0.84[ASN][1000 genomes]
rs7599758	0.90[EUR][1000 genomes]
rs7606475	0.87[ASN][1000 genomes]
rs764386	0.89[EUR][1000 genomes]
rs930651	0.84[ASN][1000 genomes]
rs930652	0.84[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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149366000-149371000	Weak transcription	Placenta	Placenta
2	chr2:149366000-149371000	Weak transcription	Hela-S3	cervix

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