Variant report

Variant	rs2484032
Chromosome Location	chr1:210317225-210317226
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210314232..210320481-chr1:210542652..210547614,9	MCF-7	breast:
2	chr1:210316361..210320109-chr1:210546317..210548810,5	MCF-7	breast:
3	chr1:210314956..210318963-chr1:210546030..210548904,4	K562	blood:
4	chr1:210316536..210317443-chr1:211686960..211687594,2	K562	blood:
5	chr1:210310049..210311976-chr1:210316997..210318625,2	K562	blood:
6	chr1:210316840..210317797-chr1:211307565..211308512,2	K562	blood:
7	chr1:210317209..210318789-chr1:210487022..210489666,2	K562	blood:
8	chr1:210316574..210317598-chr1:210573631..210575041,4	K562	blood:
9	chr1:210316285..210317489-chr1:210533856..210534705,3	MCF-7	breast:
10	chr1:210316548..210317518-chr1:210484113..210484757,2	MCF-7	breast:
11	chr1:210316799..210319752-chr1:210525162..210527241,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10779523	0.80[AFR][1000 genomes]
rs11119425	0.84[AFR][1000 genomes]
rs11119427	0.81[AFR][1000 genomes]
rs11119429	0.83[AFR][1000 genomes]
rs12129172	0.81[AFR][1000 genomes]
rs12401646	0.85[AMR][1000 genomes]
rs12750599	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1338286	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1413695	0.86[AFR][1000 genomes]
rs1490419	0.82[AFR][1000 genomes]
rs17318612	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17318744	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs2451696	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2451697	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2484030	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2484031	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2484034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes]
rs2485883	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2485884	1.00[ASN][1000 genomes]
rs2485885	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2485891	0.83[AFR][1000 genomes]
rs2485892	0.83[AFR][1000 genomes]
rs2485897	1.00[ASN][1000 genomes]
rs2485898	1.00[ASN][1000 genomes]
rs2494169	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2494170	1.00[ASN][1000 genomes]
rs2494191	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34704551	0.84[ASN][1000 genomes]
rs34931444	0.84[ASN][1000 genomes]
rs35256257	0.85[AMR][1000 genomes]
rs4844947	0.80[AFR][1000 genomes]
rs4844954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61820397	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61826848	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs6657016	0.84[ASN][1000 genomes]
rs7543650	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873144	chr1:210252522-210347417	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv873145	chr1:210302595-210347417	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv468072	chr1:210304319-210338196	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv549104	chr1:210304319-210338196	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv549105	chr1:210304319-210338397	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv873146	chr1:210312760-210347417	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 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	chr1:210298400-210318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210305400-210318400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:210313600-210318200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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