Variant report

Variant	rs10487615
Chromosome Location	chr5:56993573-56993574
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	chr5:56991984..56994307-chr5:57002292..57003964,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10057804	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189365	0.81[ASN][1000 genomes]
rs12523004	0.81[EUR][1000 genomes]
rs12654040	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654351	1.00[ASN][1000 genomes]
rs12654963	0.81[ASN][1000 genomes]
rs12655658	0.98[ASN][1000 genomes]
rs12658940	1.00[ASN][1000 genomes]
rs13176491	0.86[AFR][1000 genomes]
rs16887298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215419	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898027	0.81[EUR][1000 genomes]
rs58041565	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58266257	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59516621	0.91[ASN][1000 genomes]
rs59697426	0.81[ASN][1000 genomes]
rs61220614	0.91[ASN][1000 genomes]
rs62361169	0.81[EUR][1000 genomes]
rs6860385	0.88[AFR][1000 genomes]
rs6862527	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6894116	0.81[EUR][1000 genomes]
rs73089817	1.00[ASN][1000 genomes]
rs73089845	0.85[ASN][1000 genomes]
rs73089868	0.81[ASN][1000 genomes]
rs73089872	0.81[ASN][1000 genomes]
rs73089877	0.81[ASN][1000 genomes]
rs7714714	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734079	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978225	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56987400-56994800	Weak transcription	Right Ventricle	heart
2	chr5:56988600-56995400	Enhancers	Adipose Nuclei	Adipose
3	chr5:56989400-56996000	Enhancers	Fetal Heart	heart
4	chr5:56989600-56994000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:56989600-56994600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:56989600-56996400	Weak transcription	Psoas Muscle	Psoas
7	chr5:56989800-56993600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:56989800-56993600	Weak transcription	HSMM	muscle
9	chr5:56990000-56993600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:56990000-56995200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:56990200-57005600	Weak transcription	NH-A	brain
12	chr5:56990400-56996200	Enhancers	HMEC	breast
13	chr5:56990600-56993800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:56990600-56995000	Enhancers	Ovary	ovary
15	chr5:56990600-56996600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:56991200-56993800	Enhancers	Fetal Muscle Leg	muscle
17	chr5:56991400-56993600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:56991400-56995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:56991400-56996000	Enhancers	NHEK	skin
20	chr5:56991600-56993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:56991600-56994000	Enhancers	Stomach Smooth Muscle	stomach
22	chr5:56991600-56994600	Weak transcription	Aorta	Aorta
23	chr5:56992000-56993600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:56992000-56993800	Enhancers	Fetal Stomach	stomach
25	chr5:56992000-56994000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:56992000-56995600	Enhancers	HUVEC	blood vessel
27	chr5:56992200-56994800	Weak transcription	Right Atrium	heart
28	chr5:56992200-56996800	Enhancers	Fetal Lung	lung
29	chr5:56992400-56993600	Weak transcription	A549	lung
30	chr5:56992400-56993800	Enhancers	K562	blood
31	chr5:56992400-56995000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:56992400-56995400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:56992400-56995400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:56992400-57004400	Weak transcription	Left Ventricle	heart
35	chr5:56992800-56994200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:56992800-56995000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:56993000-56993600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:56993000-56993600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:56993000-56994000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:56993000-56994200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:56993000-56994200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:56993000-56994400	Weak transcription	NHLF	lung
43	chr5:56993000-56994800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:56993000-56994800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:56993200-56994600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:56993400-56993600	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr5:56993400-56993800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr5:56993400-56994600	Weak transcription	Rectal Smooth Muscle	rectum

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