Variant report

Variant	rs2814065
Chromosome Location	chr1:227688183-227688184
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227687608..227690220-chr1:228135013..228137869,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143816	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10159323	0.86[LWK][hapmap]
rs10916168	0.86[LWK][hapmap]
rs1495844	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1495854	1.00[AMR][1000 genomes]
rs1587156	1.00[AMR][1000 genomes]
rs1988973	1.00[AMR][1000 genomes]
rs2029838	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs2246657	1.00[AMR][1000 genomes]
rs2453681	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2644148	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2644152	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2644155	1.00[AMR][1000 genomes]
rs2814058	1.00[AMR][1000 genomes]
rs2814076	1.00[AMR][1000 genomes]
rs2814083	1.00[AMR][1000 genomes]
rs2819495	0.93[LWK][hapmap]
rs2819499	1.00[AMR][1000 genomes]
rs2819504	0.92[LWK][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2819505	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs2935148	0.86[LWK][hapmap]
rs2935150	1.00[AMR][1000 genomes]
rs2999749	1.00[AMR][1000 genomes]
rs3010189	1.00[AMR][1000 genomes]
rs57057216	1.00[AMR][1000 genomes]
rs61745453	1.00[AMR][1000 genomes]
rs903688	1.00[AMR][1000 genomes]
rs903696	0.93[LWK][hapmap]
rs963297	1.00[AMR][1000 genomes]
rs976960	0.93[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv945337	chr1:227680551-227712483	ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv947071	chr1:227682344-227694692	Inactive region	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv873244	chr1:227682414-227736363	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873245	chr1:227683859-227697381	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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