Variant report

Variant	rs16960959
Chromosome Location	chr17:18054222-18054223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18046909..18048719-chr17:18053512..18055928,2	K562	blood:
2	chr17:18050664..18054288-chr17:18086112..18089564,5	K562	blood:
3	chr17:18052063..18054995-chr17:18074493..18076431,2	K562	blood:

Variant related genes	Relation type
ENSG00000266677	Chromatin interaction
ENSG00000091542	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11656629	1.00[CHB][hapmap]
rs12103467	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs12603505	1.00[CHD][hapmap]
rs28615278	1.00[CHD][hapmap]
rs57706516	0.83[AMR][1000 genomes]
rs7217776	0.83[AMR][1000 genomes]
rs73288238	0.83[AMR][1000 genomes]
rs73288240	0.83[AMR][1000 genomes]
rs73288245	0.83[AMR][1000 genomes]
rs73288249	0.83[AMR][1000 genomes]
rs73288251	0.83[AMR][1000 genomes]
rs73288261	0.83[AMR][1000 genomes]
rs73288262	0.83[AMR][1000 genomes]
rs73288277	0.83[AMR][1000 genomes]
rs73289914	0.83[AMR][1000 genomes]
rs73302997	0.83[AMR][1000 genomes]
rs8072048	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs8821	1.00[CHD][hapmap]
rs9909732	1.00[CHB][hapmap]

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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18040600-18056000	Weak transcription	Gastric	stomach
2	chr17:18040800-18056400	Weak transcription	Right Atrium	heart
3	chr17:18045000-18056600	Weak transcription	Fetal Intestine Small	intestine
4	chr17:18045200-18056600	Weak transcription	Esophagus	oesophagus
5	chr17:18046600-18056000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr17:18047200-18054400	Weak transcription	Lung	lung
7	chr17:18047400-18056600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:18048600-18056000	Weak transcription	Pancreas	Pancrea
9	chr17:18049000-18055600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:18050800-18056000	Weak transcription	Placenta	Placenta
11	chr17:18051600-18056000	Weak transcription	Ovary	ovary
12	chr17:18051800-18056000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:18052400-18055800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:18052400-18056000	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:18052800-18055000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:18052800-18056200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:18053600-18054400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:18053600-18054400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr17:18053600-18054600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:18053600-18054800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:18053800-18054600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:18054000-18054600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:18054200-18054400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:18054200-18055400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:18054200-18055800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:18054200-18056200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:18054200-18056600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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