Variant report

Variant	rs73288112
Chromosome Location	chr17:17516261-17516262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17255767..17258601-chr17:17515737..17518655,2	K562	blood:
2	chr17:17493364..17496787-chr17:17515536..17518702,4	MCF-7	breast:
3	chr17:17512228..17514330-chr17:17515822..17518656,2	K562	blood:

Variant related genes	Relation type
ENSG00000264666	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs4924798	1.00[AMR][1000 genomes]
rs4925050	1.00[AMR][1000 genomes]
rs56259755	1.00[AMR][1000 genomes]
rs56850816	1.00[AMR][1000 genomes]
rs58930875	1.00[AMR][1000 genomes]
rs59079861	1.00[AMR][1000 genomes]
rs59304261	1.00[AMR][1000 genomes]
rs60358220	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60624876	1.00[AMR][1000 genomes]
rs60811700	0.83[AMR][1000 genomes]
rs60834160	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60942595	1.00[AMR][1000 genomes]
rs7212625	1.00[AMR][1000 genomes]
rs73288121	0.83[AMR][1000 genomes]
rs73288127	1.00[AMR][1000 genomes]
rs73290111	1.00[AMR][1000 genomes]
rs73290125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290132	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302403	1.00[AMR][1000 genomes]
rs73302411	0.80[AFR][1000 genomes];1.00[AMR][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	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17509400-17517800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:17510800-17516800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:17512800-17516800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:17512800-17516800	Weak transcription	Spleen	Spleen
5	chr17:17513000-17516800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:17515200-17516400	Enhancers	HepG2	liver
7	chr17:17515200-17517200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr17:17515200-17517200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr17:17515200-17517400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr17:17515400-17516800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr17:17515400-17517000	Enhancers	Liver	Liver
12	chr17:17515600-17516600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr17:17515600-17516800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:17515600-17516800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:17515600-17516800	Weak transcription	Ovary	ovary
16	chr17:17515800-17516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr17:17515800-17516800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr17:17515800-17516800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr17:17515800-17516800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:17515800-17517400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:17516000-17516600	Weak transcription	Left Ventricle	heart
22	chr17:17516000-17517000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr17:17516000-17519200	Weak transcription	Right Atrium	heart
24	chr17:17516200-17516600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr17:17516200-17516600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr17:17516200-17516600	Weak transcription	Adipose Nuclei	Adipose
27	chr17:17516200-17516600	Weak transcription	Fetal Heart	heart
28	chr17:17516200-17516600	Weak transcription	Fetal Muscle Leg	muscle
29	chr17:17516200-17516800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr17:17516200-17516800	Weak transcription	Fetal Stomach	stomach
31	chr17:17516200-17517200	Enhancers	Fetal Muscle Trunk	muscle

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