Variant report

Variant	rs73288220
Chromosome Location	chr17:18064941-18064942
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18061892..18063958-chr17:18064455..18066875,2	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
ENSG00000091542	Chromatin interaction
ENSG00000091536	Chromatin interaction
ENSG00000266677	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16961060	1.00[EUR][1000 genomes]
rs28523978	1.00[EUR][1000 genomes]
rs73288233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980863	1.00[EUR][1000 genomes]
rs9897239	1.00[EUR][1000 genomes]
rs9897554	1.00[EUR][1000 genomes]
rs9898548	1.00[EUR][1000 genomes]
rs9900382	1.00[EUR][1000 genomes]
rs9905667	1.00[EUR][1000 genomes]
rs9907277	1.00[EUR][1000 genomes]
rs9907337	1.00[EUR][1000 genomes]
rs9909732	1.00[EUR][1000 genomes]
rs9909757	1.00[EUR][1000 genomes]
rs9941377	1.00[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18062000-18065800	Enhancers	HSMM	muscle
2	chr17:18062000-18085600	Weak transcription	Brain Angular Gyrus	brain
3	chr17:18062200-18065200	Enhancers	Fetal Muscle Leg	muscle
4	chr17:18062200-18065400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:18062200-18066600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr17:18062200-18067600	Enhancers	K562	blood
7	chr17:18062200-18085000	Weak transcription	Right Atrium	heart
8	chr17:18062400-18066000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:18062400-18066000	Enhancers	GM12878-XiMat	blood
10	chr17:18062400-18066600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:18062600-18065400	Weak transcription	Spleen	Spleen
12	chr17:18062600-18070000	Weak transcription	Ovary	ovary
13	chr17:18063000-18065200	Enhancers	HSMMtube	muscle
14	chr17:18063400-18065400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:18063400-18066400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:18063400-18066400	Weak transcription	Fetal Intestine Large	intestine
17	chr17:18063400-18066400	Weak transcription	Fetal Intestine Small	intestine
18	chr17:18063400-18066600	Weak transcription	Placenta	Placenta
19	chr17:18064200-18065000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr17:18064200-18065600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr17:18064200-18065800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:18064400-18065800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:18064400-18066000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:18064600-18065400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:18064600-18065600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr17:18064600-18065600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:18064600-18065600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr17:18064600-18065800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr17:18064600-18066000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:18064800-18065600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:18064800-18065600	Enhancers	Brain Anterior Caudate	brain
32	chr17:18064800-18065800	Enhancers	Osteobl	bone
33	chr17:18064800-18085400	Weak transcription	Brain Inferior Temporal Lobe	brain

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