Variant report

Variant	rs6705517
Chromosome Location	chr2:148570072-148570073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148568641..148571230-chr2:148594216..148595772,2	MCF-7	breast:
2	chr2:148569573..148574536-chr2:148598832..148604000,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121989	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11883657	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11884541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11903941	1.00[AMR][1000 genomes]
rs17232015	1.00[AMR][1000 genomes]
rs17232022	1.00[AMR][1000 genomes]
rs57219455	1.00[AMR][1000 genomes]
rs57687744	1.00[AMR][1000 genomes]
rs6737271	0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73003432	1.00[AMR][1000 genomes]
rs73003434	1.00[AMR][1000 genomes]
rs73003439	1.00[AMR][1000 genomes]
rs73003443	1.00[AMR][1000 genomes]
rs73003455	1.00[AMR][1000 genomes]
rs73003466	1.00[AMR][1000 genomes]
rs73003478	1.00[AMR][1000 genomes]
rs73005148	1.00[AMR][1000 genomes]
rs73005150	1.00[AMR][1000 genomes]
rs73005154	1.00[AMR][1000 genomes]
rs73005176	1.00[AMR][1000 genomes]
rs73007121	1.00[AMR][1000 genomes]
rs73018025	1.00[AMR][1000 genomes]
rs73018039	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73018047	1.00[AMR][1000 genomes]
rs73018048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73018083	1.00[AMR][1000 genomes]
rs73018086	1.00[AMR][1000 genomes]
rs73018088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73020006	1.00[AMR][1000 genomes]
rs73020017	1.00[AMR][1000 genomes]
rs73020021	1.00[AMR][1000 genomes]
rs73020026	1.00[AMR][1000 genomes]
rs73020034	1.00[AMR][1000 genomes]
rs73020036	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr2:148569000-148570200	Enhancers	Stomach Mucosa	stomach
2	chr2:148569600-148570200	Enhancers	Rectal Mucosa Donor 31	rectum

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