Variant report

Variant	rs62365255
Chromosome Location	chr5:111750202-111750203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111496426..111499133-chr5:111749642..111751154,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238363	Chromatin interaction
ENSG00000224032	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10050630	0.85[EUR][1000 genomes]
rs10065740	1.00[ASN][1000 genomes]
rs10068493	1.00[ASN][1000 genomes]
rs1019473	0.80[EUR][1000 genomes]
rs10463433	1.00[ASN][1000 genomes]
rs11241160	1.00[ASN][1000 genomes]
rs12187589	1.00[ASN][1000 genomes]
rs12187787	1.00[ASN][1000 genomes]
rs12187819	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188700	1.00[ASN][1000 genomes]
rs12189127	0.86[EUR][1000 genomes]
rs12189152	0.86[EUR][1000 genomes]
rs1318178	1.00[ASN][1000 genomes]
rs1345685	0.85[EUR][1000 genomes]
rs1560061	1.00[ASN][1000 genomes]
rs17134319	1.00[ASN][1000 genomes]
rs17134348	1.00[ASN][1000 genomes]
rs17271934	1.00[ASN][1000 genomes]
rs17343994	1.00[ASN][1000 genomes]
rs17345175	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354763	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354833	1.00[ASN][1000 genomes]
rs1896620	1.00[ASN][1000 genomes]
rs1896621	1.00[ASN][1000 genomes]
rs2067096	1.00[ASN][1000 genomes]
rs386446	1.00[ASN][1000 genomes]
rs4292487	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958025	1.00[ASN][1000 genomes]
rs55639430	1.00[ASN][1000 genomes]
rs55650579	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55712004	1.00[ASN][1000 genomes]
rs55796748	1.00[ASN][1000 genomes]
rs55814486	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55829200	1.00[ASN][1000 genomes]
rs55845736	1.00[ASN][1000 genomes]
rs55913426	1.00[ASN][1000 genomes]
rs56108405	1.00[ASN][1000 genomes]
rs56293447	1.00[ASN][1000 genomes]
rs56307310	1.00[ASN][1000 genomes]
rs57428532	1.00[ASN][1000 genomes]
rs60636568	1.00[ASN][1000 genomes]
rs61061658	1.00[ASN][1000 genomes]
rs62365251	1.00[ASN][1000 genomes]
rs6594588	1.00[ASN][1000 genomes]
rs66521031	1.00[ASN][1000 genomes]
rs66537821	0.81[EUR][1000 genomes]
rs66550707	1.00[ASN][1000 genomes]
rs66814803	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66892745	1.00[ASN][1000 genomes]
rs67033649	1.00[ASN][1000 genomes]
rs67586008	1.00[ASN][1000 genomes]
rs6878117	1.00[ASN][1000 genomes]
rs6893877	1.00[ASN][1000 genomes]
rs6894036	1.00[ASN][1000 genomes]
rs72781655	1.00[ASN][1000 genomes]
rs72781664	1.00[ASN][1000 genomes]
rs72781668	1.00[ASN][1000 genomes]
rs72781677	1.00[ASN][1000 genomes]
rs72781678	1.00[ASN][1000 genomes]
rs72783628	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783634	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702830	0.86[EUR][1000 genomes]
rs7722291	1.00[ASN][1000 genomes]
rs821736	1.00[ASN][1000 genomes]
rs821749	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111728800-111753600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:111730400-111753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:111732000-111753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:111734200-111753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:111736000-111752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:111738400-111752400	Weak transcription	Fetal Brain Female	brain
7	chr5:111740400-111751400	Weak transcription	Ovary	ovary
8	chr5:111743200-111753400	Weak transcription	Placenta	Placenta
9	chr5:111743600-111753400	Weak transcription	Brain Substantia Nigra	brain
10	chr5:111744200-111752600	Weak transcription	Hela-S3	cervix
11	chr5:111746200-111753400	Weak transcription	Right Ventricle	heart
12	chr5:111746600-111753800	Weak transcription	Spleen	Spleen
13	chr5:111747600-111750400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:111748000-111751200	Enhancers	Fetal Heart	heart
15	chr5:111748000-111752000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:111748000-111753600	Weak transcription	Pancreas	Pancrea
17	chr5:111748000-111754200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:111748200-111750600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:111748200-111753400	Weak transcription	Fetal Lung	lung
20	chr5:111748600-111750800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:111748600-111753600	Weak transcription	Left Ventricle	heart
22	chr5:111749200-111750400	Enhancers	Right Atrium	heart
23	chr5:111749400-111752800	Weak transcription	Aorta	Aorta
24	chr5:111749400-111753400	Weak transcription	Fetal Kidney	kidney
25	chr5:111749400-111753600	Weak transcription	Lung	lung
26	chr5:111749600-111753000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:111749600-111753600	Weak transcription	Esophagus	oesophagus
28	chr5:111749600-111753600	Weak transcription	Gastric	stomach
29	chr5:111749600-111753600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:111749800-111750800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:111749800-111752600	Weak transcription	HUVEC	blood vessel
32	chr5:111749800-111752800	Weak transcription	Psoas Muscle	Psoas
33	chr5:111749800-111753400	Weak transcription	NHEK	skin
34	chr5:111749800-111753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:111750000-111751000	Enhancers	Adipose Nuclei	Adipose

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