Variant report

Variant	rs6430391
Chromosome Location	chr2:133839584-133839585
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	chr2:133811077..133813218-chr2:133838444..133841047,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1025696	0.91[EUR][1000 genomes]
rs1025697	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10928440	1.00[ASN][1000 genomes]
rs12467278	1.00[ASN][1000 genomes]
rs12468087	1.00[ASN][1000 genomes]
rs12468373	1.00[ASN][1000 genomes]
rs12470656	1.00[ASN][1000 genomes]
rs13000201	1.00[ASN][1000 genomes]
rs13018841	1.00[ASN][1000 genomes]
rs13033108	1.00[ASN][1000 genomes]
rs1347709	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368969	1.00[ASN][1000 genomes]
rs1434223	1.00[ASN][1000 genomes]
rs1434229	1.00[ASN][1000 genomes]
rs1434230	1.00[ASN][1000 genomes]
rs17735890	1.00[ASN][1000 genomes]
rs17736771	1.00[ASN][1000 genomes]
rs17792341	1.00[ASN][1000 genomes]
rs17792473	1.00[ASN][1000 genomes]
rs17798750	1.00[ASN][1000 genomes]
rs1821426	1.00[ASN][1000 genomes]
rs1821427	1.00[ASN][1000 genomes]
rs1836222	1.00[ASN][1000 genomes]
rs33999986	1.00[ASN][1000 genomes]
rs34133481	1.00[ASN][1000 genomes]
rs34272763	1.00[ASN][1000 genomes]
rs34567682	1.00[ASN][1000 genomes]
rs34782758	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35248736	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35331541	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35496058	1.00[ASN][1000 genomes]
rs35516467	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35535037	1.00[ASN][1000 genomes]
rs35698072	1.00[ASN][1000 genomes]
rs35895572	1.00[ASN][1000 genomes]
rs6430390	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6712510	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6720246	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756592	1.00[ASN][1000 genomes]
rs71413536	1.00[ASN][1000 genomes]
rs7558369	1.00[ASN][1000 genomes]
rs755875	1.00[ASN][1000 genomes]
rs7561032	1.00[ASN][1000 genomes]
rs7585734	0.81[AFR][1000 genomes]
rs7588373	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598823	1.00[ASN][1000 genomes]
rs7603712	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv916805	chr2:133664765-133924973	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv834381	chr2:133722671-133897994	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv834382	chr2:133728399-133891418	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875139	chr2:133777866-133929225	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949546	chr2:133798832-133933491	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv470487	chr2:133811842-133875512	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv875140	chr2:133816484-133904829	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1008004	chr2:133827250-133954810	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv521538	chr2:133830379-133852801	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv949629	chr2:133830379-134014961	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1002197	chr2:133836002-133864689	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1001601	chr2:133838626-134005959	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133831600-133855200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133835800-133840000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:133836200-133855200	Weak transcription	Ovary	ovary
4	chr2:133837800-133839800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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