Variant report

Variant	rs73930527
Chromosome Location	chr2:39407519-39407520
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:39407434..39408029-chr2:42569413..42570155,2	MCF-7	breast:
2	chr2:39346889..39350122-chr2:39405569..39409116,4	MCF-7	breast:
3	chr2:39346262..39349039-chr2:39406171..39408493,3	MCF-7	breast:
4	chr2:39406380..39409047-chr2:39409138..39411647,2	MCF-7	breast:
5	chr2:39181118..39182060-chr2:39407089..39408066,2	MCF-7	breast:
6	chr2:39351270..39352242-chr2:39407171..39408123,9	MCF-7	breast:
7	chr2:39407223..39408028-chr2:42237921..42238526,2	MCF-7	breast:
8	chr2:39181130..39181881-chr2:39407152..39408039,3	MCF-7	breast:
9	chr2:39407182..39408035-chr2:39443663..39444610,2	MCF-7	breast:
10	chr2:39132712..39133257-chr2:39407445..39408044,2	MCF-7	breast:
11	chr2:39181118..39182060-chr2:39407089..39408066,4	MCF-7	breast:
12	chr2:39350902..39352219-chr2:39407281..39408123,8	MCF-7	breast:
13	chr2:39347592..39349369-chr2:39406076..39408627,2	K562	blood:
14	chr2:39377970..39378529-chr2:39407446..39408101,2	MCF-7	breast:
15	chr2:39350128..39352396-chr2:39406836..39408645,3	MCF-7	breast:
16	chr2:39407450..39407963-chr2:39693176..39694107,2	MCF-7	breast:
17	chr2:39407393..39408029-chr2:42569413..42570328,3	MCF-7	breast:
18	chr2:39407371..39407923-chr2:39454464..39455003,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115904	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11885294	1.00[AMR][1000 genomes]
rs11891744	1.00[AMR][1000 genomes]
rs11895080	1.00[AMR][1000 genomes]
rs11897365	1.00[AMR][1000 genomes]
rs11900883	1.00[AMR][1000 genomes]
rs11902441	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11903528	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904764	1.00[AMR][1000 genomes]
rs34819676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55649294	1.00[AMR][1000 genomes]
rs55967570	1.00[AMR][1000 genomes]
rs56256711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922850	1.00[AMR][1000 genomes]
rs73922853	1.00[AMR][1000 genomes]
rs73922855	1.00[AMR][1000 genomes]
rs73922858	1.00[AMR][1000 genomes]
rs73924807	1.00[AMR][1000 genomes]
rs73924808	1.00[AMR][1000 genomes]
rs73930515	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930516	1.00[AMR][1000 genomes]
rs73930517	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930520	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930523	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930537	1.00[AMR][1000 genomes]
rs73930539	1.00[AMR][1000 genomes]
rs73930547	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv581495	chr2:39282079-39475205	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv1000658	chr2:39374206-39466374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv1832414	chr2:39385155-39588797	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39388800-39408600	Weak transcription	HSMMtube	muscle
2	chr2:39401800-39422600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:39405400-39415800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:39406200-39429800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:39406400-39408800	Enhancers	Placenta	Placenta
6	chr2:39406800-39407800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:39406800-39408800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:39407200-39407800	Enhancers	Fetal Intestine Large	intestine
9	chr2:39407400-39407800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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