Variant report

Variant	rs17115917
Chromosome Location	chr14:82268431-82268432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:82254990..82256625-chr14:82266793..82269295,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11846543	1.00[EUR][1000 genomes]
rs11849848	1.00[EUR][1000 genomes]
rs11851708	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11851769	1.00[EUR][1000 genomes]
rs11851776	1.00[EUR][1000 genomes]
rs17116198	1.00[EUR][1000 genomes]
rs57506135	1.00[EUR][1000 genomes]
rs59877625	1.00[EUR][1000 genomes]
rs59911720	1.00[EUR][1000 genomes]
rs6574682	1.00[EUR][1000 genomes]
rs7146571	1.00[EUR][1000 genomes]
rs7148848	1.00[EUR][1000 genomes]
rs7150289	1.00[EUR][1000 genomes]
rs7152360	1.00[EUR][1000 genomes]
rs7156396	1.00[EUR][1000 genomes]
rs7156980	1.00[EUR][1000 genomes]
rs7157914	1.00[EUR][1000 genomes]
rs73344289	1.00[EUR][1000 genomes]
rs8011500	1.00[EUR][1000 genomes]
rs8022831	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	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv565299	chr14:81983027-82586324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1052666	chr14:82069162-83028382	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv456347	chr14:82174341-82661389	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv565300	chr14:82174341-82661389	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1042626	chr14:82188141-82663597	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1052385	chr14:82190891-82666070	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv542146	chr14:82190891-82666070	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3399759	chr14:82233469-82554259	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82266800-82269400	Enhancers	Fetal Stomach	stomach
2	chr14:82267200-82271600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:82268000-82269600	Enhancers	Colon Smooth Muscle	Colon
4	chr14:82268200-82268600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:82268200-82268600	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr14:82268200-82268600	Enhancers	Fetal Muscle Leg	muscle
7	chr14:82268200-82268800	Enhancers	Fetal Brain Male	brain
8	chr14:82268200-82268800	Active TSS	Stomach Smooth Muscle	stomach
9	chr14:82268200-82269600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:82268400-82268800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:82268400-82269200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr14:82268400-82269600	Enhancers	Rectal Smooth Muscle	rectum

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