Variant report

Variant	rs191840571
Chromosome Location	chr5:17365851-17365852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17365516..17367373-chr5:17399549..17401386,2	K562	blood:
2	chr5:17363994..17367599-chr5:17368831..17372207,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv461988	chr5:17296342-17484038	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv597313	chr5:17296342-17484038	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv830219	chr5:17325802-17518914	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv1793466	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	esv1801170	chr5:17364700-17721569	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	esv1820519	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
8	esv1824831	chr5:17364700-17721569	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
9	esv1827359	chr5:17364700-17721569	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
10	esv1828062	chr5:17364700-17721569	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv427713	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv428464	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	esv2757986	chr5:17364700-17936404	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	esv2759328	chr5:17364700-17936404	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17354800-17366000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:17362200-17375200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:17364400-17366200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:17364400-17367200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:17364800-17366200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:17365000-17366000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:17365000-17366000	Enhancers	Fetal Brain Female	brain
8	chr5:17365000-17366000	Enhancers	Fetal Stomach	stomach
9	chr5:17365000-17366200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:17365000-17366200	Enhancers	Fetal Lung	lung
11	chr5:17365200-17366000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:17365200-17366200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr5:17365200-17367200	Enhancers	NHLF	lung
14	chr5:17365400-17366000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:17365400-17366200	Enhancers	NH-A	brain
16	chr5:17365400-17366400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:17365400-17367200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:17365400-17367200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:17365400-17368200	Enhancers	Fetal Brain Male	brain
20	chr5:17365600-17366000	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:17365600-17366000	Active TSS	Brain Germinal Matrix	brain
22	chr5:17365600-17366000	Flanking Active TSS	A549	lung
23	chr5:17365600-17366200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:17365600-17366200	Enhancers	Ovary	ovary
25	chr5:17365800-17366000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:17365800-17366000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:17365800-17366000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:17365800-17366000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:17365800-17366000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr5:17365800-17366200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr5:17365800-17366200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr5:17365800-17366200	Enhancers	Brain Substantia Nigra	brain
33	chr5:17365800-17366400	Active TSS	Brain Hippocampus Middle	brain
34	chr5:17365800-17367000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:17365800-17367600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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