Variant report

Variant	rs62073602
Chromosome Location	chr17:18057907-18057908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr17:18056903-18057921	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18057503..18062681-chr17:18084968..18089396,8	MCF-7	breast:
2	chr17:18054836..18057146-chr17:18057563..18061410,3	MCF-7	breast:
3	chr17:18055989..18058847-chr17:18059352..18061809,2	K562	blood:
4	chr17:18049467..18051833-chr17:18057367..18059688,2	MCF-7	breast:
5	chr17:18057350..18061680-chr17:18083813..18088656,8	K562	blood:
6	chr17:18056639..18059705-chr17:18061625..18064659,3	MCF-7	breast:

No data

Variant related genes	Relation type
MYO15A	TF binding region
ENSG00000266677	Chromatin interaction
ENSG00000091542	Chromatin interaction
ENSG00000091536	Chromatin interaction
ENSG00000238691	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048161	0.92[EUR][1000 genomes]
rs10451244	0.86[EUR][1000 genomes]
rs11078411	0.90[EUR][1000 genomes]
rs11078412	0.88[EUR][1000 genomes]
rs11652964	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11653988	0.90[EUR][1000 genomes]
rs11654146	0.92[EUR][1000 genomes]
rs11654177	0.84[EUR][1000 genomes]
rs11654741	0.86[EUR][1000 genomes]
rs11655588	0.84[EUR][1000 genomes]
rs11655731	0.88[EUR][1000 genomes]
rs11655797	0.86[EUR][1000 genomes]
rs11656035	0.92[EUR][1000 genomes]
rs11657194	0.89[EUR][1000 genomes]
rs11658477	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868832	0.82[EUR][1000 genomes]
rs11868886	0.86[EUR][1000 genomes]
rs11871039	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11871491	0.86[EUR][1000 genomes]
rs12600694	0.83[EUR][1000 genomes]
rs13284	0.86[EUR][1000 genomes]
rs1563371	0.86[EUR][1000 genomes]
rs1563373	0.86[EUR][1000 genomes]
rs16960980	0.89[EUR][1000 genomes]
rs16960983	0.89[EUR][1000 genomes]
rs16960986	0.84[EUR][1000 genomes]
rs16960990	0.85[EUR][1000 genomes]
rs16960996	0.86[EUR][1000 genomes]
rs2015336	0.92[EUR][1000 genomes]
rs28811342	0.85[EUR][1000 genomes]
rs3088233	0.86[EUR][1000 genomes]
rs34474249	0.92[EUR][1000 genomes]
rs36058389	0.85[EUR][1000 genomes]
rs55918833	0.93[EUR][1000 genomes]
rs58441148	0.86[EUR][1000 genomes]
rs59354912	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60285171	0.83[EUR][1000 genomes]
rs62072464	0.85[EUR][1000 genomes]
rs62072465	0.86[EUR][1000 genomes]
rs62072466	0.85[EUR][1000 genomes]
rs62072467	0.87[EUR][1000 genomes]
rs62072468	0.83[EUR][1000 genomes]
rs62072496	0.89[EUR][1000 genomes]
rs62072497	0.89[EUR][1000 genomes]
rs62072498	0.86[EUR][1000 genomes]
rs62072500	0.86[EUR][1000 genomes]
rs62073603	0.95[EUR][1000 genomes]
rs62073604	0.93[EUR][1000 genomes]
rs62073605	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073606	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62073607	0.87[EUR][1000 genomes]
rs62073608	0.93[EUR][1000 genomes]
rs62073609	0.93[EUR][1000 genomes]
rs62073611	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62073615	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62073649	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62073650	0.91[EUR][1000 genomes]
rs6502640	0.86[EUR][1000 genomes]
rs7207276	0.94[EUR][1000 genomes]
rs735960	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065026	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069094	0.89[EUR][1000 genomes]
rs8077577	0.93[EUR][1000 genomes]
rs9916193	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs997315	0.90[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	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	nsv907769	chr17:18000321-18064195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv470580	chr17:18029857-18060192	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
11	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
12	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18056600-18058800	Enhancers	Fetal Brain Male	brain
2	chr17:18057200-18061400	Weak transcription	Primary T cells from cord blood	blood
3	chr17:18057400-18058000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:18057400-18058200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:18057400-18058200	Bivalent Enhancer	Fetal Thymus	thymus
6	chr17:18057400-18059400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:18057400-18059600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:18057400-18060200	Weak transcription	HMEC	breast
9	chr17:18057400-18061000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:18057400-18061200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr17:18057400-18061200	Weak transcription	Small Intestine	intestine
12	chr17:18057400-18061400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:18057400-18061400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:18057600-18058000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:18057600-18058000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:18057600-18058000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr17:18057600-18058200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr17:18057600-18058200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:18057600-18058200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr17:18057600-18058200	Enhancers	Fetal Muscle Leg	muscle
21	chr17:18057600-18058200	Enhancers	Fetal Stomach	stomach
22	chr17:18057600-18058800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:18057600-18059000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:18057600-18059200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:18057600-18059400	Weak transcription	NHLF	lung
26	chr17:18057600-18059800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:18057600-18060800	Weak transcription	Primary B cells from cord blood	blood
28	chr17:18057600-18060800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:18057600-18060800	Weak transcription	Placenta	Placenta
30	chr17:18057600-18061000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:18057600-18061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr17:18057600-18061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr17:18057600-18061000	Weak transcription	Lung	lung
34	chr17:18057600-18061000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr17:18057600-18061200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr17:18057600-18061200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr17:18057600-18061200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:18057600-18061200	Weak transcription	Esophagus	oesophagus
39	chr17:18057600-18061200	Weak transcription	Fetal Intestine Large	intestine
40	chr17:18057600-18061200	Weak transcription	Right Ventricle	heart
41	chr17:18057600-18061400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr17:18057600-18061400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr17:18057600-18061400	Weak transcription	Adipose Nuclei	Adipose
44	chr17:18057600-18061400	Weak transcription	Brain Angular Gyrus	brain
45	chr17:18057600-18061400	Weak transcription	Colonic Mucosa	Colon
46	chr17:18057600-18061400	Weak transcription	Fetal Intestine Small	intestine
47	chr17:18057600-18061400	Weak transcription	Left Ventricle	heart
48	chr17:18057600-18061400	Weak transcription	Pancreas	Pancrea
49	chr17:18057600-18061400	Weak transcription	Right Atrium	heart
50	chr17:18057600-18061400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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