Variant report

Variant	rs56351116
Chromosome Location	chr5:177532564-177532565
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	chr5:176923305..176925684-chr5:177532526..177534149,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196923	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10060446	0.81[ASN][1000 genomes]
rs13163671	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13175750	0.82[AMR][1000 genomes]
rs13180226	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34093388	0.81[ASN][1000 genomes]
rs34882864	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35450829	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36090803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3812073	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3812077	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3812080	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3924305	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62390548	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7716409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][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	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv883186	chr5:177376317-177549491	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
4	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1021060	chr5:177386344-177539867	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv600391	chr5:177488281-177549491	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
8	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription 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	126 gene(s)	inside rSNPs	diseases
12	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177526000-177534800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:177530400-177532600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:177530400-177532600	Enhancers	Stomach Mucosa	stomach
4	chr5:177531400-177532600	Enhancers	Esophagus	oesophagus
5	chr5:177531600-177533600	Weak transcription	NHEK	skin
6	chr5:177531600-177533800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:177531600-177534200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:177531600-177535600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:177531800-177532600	Enhancers	Fetal Muscle Trunk	muscle
10	chr5:177532000-177533200	Weak transcription	Placenta	Placenta
11	chr5:177532000-177533400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:177532000-177533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:177532000-177533800	Weak transcription	HMEC	breast
14	chr5:177532000-177539800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:177532200-177533600	Weak transcription	Gastric	stomach
16	chr5:177532400-177532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:177532400-177533400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:177532400-177533800	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:177532400-177533800	Weak transcription	Lung	lung
20	chr5:177532400-177534000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:177532400-177535000	Weak transcription	Colonic Mucosa	Colon
22	chr5:177532400-177535400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:177532400-177535400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:177532400-177535600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:177532400-177535800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:177532400-177539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:177532400-177539800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:177532400-177539800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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