Variant report

Variant	rs62073603
Chromosome Location	chr17:18064316-18064317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr17:18064205-18065107	GM12878	blood:	n/a	chr17:18064802-18064811 chr17:18064801-18064812 chr17:18064801-18064811
2	EP300	chr17:18064241-18065089	GM12878	blood:	n/a	n/a
3	MTA3	chr17:18063886-18064396	GM12878	blood:	n/a	n/a
4	RELA	chr17:18064209-18065008	GM18951	blood:	n/a	n/a
5	TBL1XR1	chr17:18064282-18065100	GM12878	blood:	n/a	n/a
6	BHLHE40	chr17:18064135-18064839	K562	blood:	n/a	n/a
7	ELK1	chr17:18064215-18064515	K562	blood:	n/a	n/a
8	MAX	chr17:18063705-18064970	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:18056639..18059705-chr17:18061625..18064659,3	MCF-7	breast:
2	chr17:18061742..18067292-chr17:18083221..18089651,7	K562	blood:
3	chr17:18063606..18070028-chr17:18081885..18087934,10	MCF-7	breast:

Variant related genes	Relation type
MYO15A	TF binding region
ENSG00000091536	Chromatin interaction
ENSG00000091542	Chromatin interaction
ENSG00000266677	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10451244	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11078411	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11078412	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11652964	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11653988	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11654146	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11654177	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11654741	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11655588	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11655731	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11655797	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11656035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11657194	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11658477	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11868832	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11868886	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11871039	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11871491	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12600694	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13284	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1563371	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1563373	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16960980	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16960983	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16960986	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16960990	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16960996	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2015336	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28811342	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3088233	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34474249	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36058389	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55918833	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58441148	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59354912	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60285171	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62072464	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62072465	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62072466	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62072467	0.89[EUR][1000 genomes]
rs62072468	0.88[EUR][1000 genomes]
rs62072496	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62072497	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62072498	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62072500	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62073602	0.95[EUR][1000 genomes]
rs62073604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073605	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62073606	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62073607	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62073608	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62073609	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62073611	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62073615	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62073649	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62073650	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6502640	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7207276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735960	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8065026	0.94[EUR][1000 genomes]
rs8069094	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8077577	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9916193	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997315	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18062000-18064400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr17:18062000-18064800	Weak transcription	Brain Anterior Caudate	brain
3	chr17:18062000-18065800	Enhancers	HSMM	muscle
4	chr17:18062000-18085600	Weak transcription	Brain Angular Gyrus	brain
5	chr17:18062200-18064600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:18062200-18065200	Enhancers	Fetal Muscle Leg	muscle
7	chr17:18062200-18065400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:18062200-18066600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:18062200-18067600	Enhancers	K562	blood
10	chr17:18062200-18085000	Weak transcription	Right Atrium	heart
11	chr17:18062400-18064600	Weak transcription	Fetal Stomach	stomach
12	chr17:18062400-18066000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:18062400-18066000	Enhancers	GM12878-XiMat	blood
14	chr17:18062400-18066600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:18062600-18064400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:18062600-18065400	Weak transcription	Spleen	Spleen
17	chr17:18062600-18070000	Weak transcription	Ovary	ovary
18	chr17:18063000-18064800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr17:18063000-18065200	Enhancers	HSMMtube	muscle
20	chr17:18063200-18064400	Weak transcription	Liver	Liver
21	chr17:18063400-18064400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:18063400-18064600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:18063400-18065400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:18063400-18066400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:18063400-18066400	Weak transcription	Fetal Intestine Large	intestine
26	chr17:18063400-18066400	Weak transcription	Fetal Intestine Small	intestine
27	chr17:18063400-18066600	Weak transcription	Placenta	Placenta
28	chr17:18063600-18064600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:18063600-18064800	Weak transcription	Osteobl	bone
30	chr17:18063800-18064600	Enhancers	Fetal Muscle Trunk	muscle
31	chr17:18064200-18064600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:18064200-18065000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr17:18064200-18065600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:18064200-18065800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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