Variant report

Variant	rs56731887
Chromosome Location	chr5:179894703-179894704
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179744163..179746642-chr5:179892937..179895669,2	MCF-7	breast:
2	chr19:13263786..13264489-chr5:179894149..179895088,2	Hela-S3	cervix:
3	chr5:179718171..179722134-chr5:179892968..179897954,8	MCF-7	breast:
4	chr5:179717189..179723869-chr5:179893101..179900893,11	MCF-7	breast:
5	chr5:179777936..179782491-chr5:179891240..179895951,5	MCF-7	breast:
6	chr5:179603344..179605727-chr5:179894143..179896109,2	K562	blood:
7	chr5:179891217..179897148-chr5:179918001..179923308,6	MCF-7	breast:
8	chr5:179893921..179896183-chr5:179914785..179916976,2	MCF-7	breast:
9	chr5:179739299..179743379-chr5:179893176..179898905,6	MCF-7	breast:
10	chr5:179518292..179520917-chr5:179894256..179896399,2	MCF-7	breast:
11	chr5:179754405..179760149-chr5:179891592..179897254,9	MCF-7	breast:
12	chr5:179882912..179885325-chr5:179894280..179896586,2	MCF-7	breast:
13	chr5:179890341..179892861-chr5:179894283..179898100,3	MCF-7	breast:
14	chr5:179866183..179869877-chr5:179892003..179895678,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248367	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000250509	Chromatin interaction
ENSG00000131459	Chromatin interaction
ENSG00000050748	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17080326	1.00[EUR][1000 genomes]
rs57300606	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57549890	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57737469	1.00[EUR][1000 genomes]
rs57850730	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58914528	1.00[EUR][1000 genomes]
rs59190576	1.00[EUR][1000 genomes]
rs60719984	1.00[EUR][1000 genomes]
rs61253314	1.00[EUR][1000 genomes]
rs61298175	1.00[EUR][1000 genomes]
rs73361607	1.00[EUR][1000 genomes]
rs73361608	0.87[EUR][1000 genomes]
rs73361609	1.00[EUR][1000 genomes]
rs73361611	1.00[EUR][1000 genomes]
rs73361617	1.00[EUR][1000 genomes]
rs73361620	1.00[EUR][1000 genomes]
rs73361630	1.00[EUR][1000 genomes]
rs73361633	1.00[EUR][1000 genomes]
rs73361636	1.00[EUR][1000 genomes]
rs73361651	1.00[EUR][1000 genomes]
rs73361671	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73361675	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73814411	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS 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	18 gene(s)	inside rSNPs	diseases
11	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179885200-179895800	Weak transcription	Right Atrium	heart
2	chr5:179891200-179894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:179893400-179894800	Enhancers	Stomach Mucosa	stomach
4	chr5:179893800-179894800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:179894000-179894800	Enhancers	Fetal Muscle Trunk	muscle
6	chr5:179894000-179894800	Enhancers	HSMMtube	muscle
7	chr5:179894200-179894800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:179894200-179894800	Enhancers	Colonic Mucosa	Colon
9	chr5:179894200-179894800	Enhancers	Placenta	Placenta
10	chr5:179894200-179895000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:179894200-179895000	Enhancers	Duodenum Mucosa	Duodenum
12	chr5:179894200-179895000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr5:179894200-179898400	Enhancers	Spleen	Spleen
14	chr5:179894400-179895000	Flanking Active TSS	Lung	lung
15	chr5:179894400-179895400	Active TSS	Placenta Amnion	Placenta Amnion
16	chr5:179894400-179895600	Flanking Active TSS	A549	lung
17	chr5:179894400-179896000	Weak transcription	Esophagus	oesophagus
18	chr5:179894600-179894800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr5:179894600-179895000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:179894600-179895600	Flanking Active TSS	Hela-S3	cervix
21	chr5:179894600-179896000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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