Variant report

Variant	rs12479175
Chromosome Location	chr2:49154551-49154552
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	chr2:49139634..49141993-chr2:49154425..49156573,2	K562	blood:
2	chr2:49127535..49130275-chr2:49154381..49157152,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10202351	0.86[EUR][1000 genomes]
rs10490121	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10490123	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11883527	0.86[ASN][1000 genomes]
rs12464343	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12471243	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12475026	0.86[ASN][1000 genomes]
rs12991538	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13001379	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13013908	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13015556	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17037776	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17037871	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17037878	0.84[EUR][1000 genomes]
rs2215912	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34849254	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35456987	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35972416	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66662006	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68122136	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71407532	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1013414	chr2:49090394-49191927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1012090	chr2:49090394-49192704	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv874007	chr2:49102526-49321164	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
9	nsv874008	chr2:49126802-49189921	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv834003	chr2:49131673-49312273	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1004288	chr2:49147087-49205110	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv581790	chr2:49153675-49172049	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49153600-49155600	Enhancers	HepG2	liver
2	chr2:49154200-49154600	Enhancers	A549	lung

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