Variant report

Variant	rs58116638
Chromosome Location	chr17:17885753-17885754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17873857..17876619-chr17:17885285..17887552,4	MCF-7	breast:
2	chr17:17884942..17887928-chr17:17909388..17912022,2	MCF-7	breast:
3	chr17:17874682..17878997-chr17:17883276..17886236,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171962	Chromatin interaction
ENSG00000175662	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56153053	1.00[EUR][1000 genomes]
rs56160247	1.00[EUR][1000 genomes]
rs57134764	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58376085	1.00[EUR][1000 genomes]
rs58936409	1.00[EUR][1000 genomes]
rs58970292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61050785	1.00[EUR][1000 genomes]
rs7218594	1.00[EUR][1000 genomes]
rs73303840	1.00[EUR][1000 genomes]
rs73303844	1.00[EUR][1000 genomes]
rs73979211	1.00[EUR][1000 genomes]
rs73979243	1.00[EUR][1000 genomes]
rs8066528	1.00[EUR][1000 genomes]
rs8067146	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078368	1.00[EUR][1000 genomes]
rs8078811	1.00[EUR][1000 genomes]
rs9914362	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	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
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr17:17876400-17888600	Weak transcription	Lung	lung
2	chr17:17876400-17903200	Weak transcription	Gastric	stomach
3	chr17:17876600-17914600	Weak transcription	Aorta	Aorta
4	chr17:17876800-17891800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:17876800-17909400	Weak transcription	Brain Substantia Nigra	brain
6	chr17:17876800-17912000	Weak transcription	Colon Smooth Muscle	Colon
7	chr17:17877000-17886400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:17877000-17886400	Weak transcription	NHEK	skin
9	chr17:17877000-17887000	Weak transcription	Brain Anterior Caudate	brain
10	chr17:17877000-17888000	Weak transcription	Ovary	ovary
11	chr17:17877000-17891000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:17877000-17891800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr17:17877000-17900000	Weak transcription	Fetal Intestine Small	intestine
14	chr17:17877200-17891200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr17:17877200-17891400	Weak transcription	Fetal Muscle Leg	muscle
16	chr17:17877600-17893200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr17:17881600-17891200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr17:17881800-17908200	Weak transcription	Pancreas	Pancrea
19	chr17:17882600-17891800	Weak transcription	Spleen	Spleen
20	chr17:17883400-17886000	Weak transcription	Stomach Mucosa	stomach
21	chr17:17883400-17886600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:17883400-17888200	Weak transcription	Fetal Stomach	stomach
23	chr17:17883400-17893000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr17:17883600-17892600	Weak transcription	Esophagus	oesophagus
25	chr17:17884600-17897400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr17:17884800-17891200	Weak transcription	Brain Hippocampus Middle	brain
27	chr17:17885000-17886400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr17:17885000-17888000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:17885000-17891200	Weak transcription	Brain Angular Gyrus	brain
30	chr17:17885000-17891600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr17:17885000-17891800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:17885000-17892000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr17:17885000-17892600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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