Variant report

Variant	rs542702448
Chromosome Location	chr5:179222652-179222653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179048548..179052839-chr5:179221765..179224480,6	MCF-7	breast:
2	chr5:179123572..179126776-chr5:179221240..179224069,3	MCF-7	breast:
3	chr5:179157523..179162988-chr5:179219694..179224698,13	MCF-7	breast:
4	chr5:179104088..179107429-chr5:179222108..179224529,3	MCF-7	breast:
5	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
6	chr5:179189767..179190816-chr5:179222590..179224521,15	MCF-7	breast:
7	chr5:179123773..179127716-chr5:179220848..179225521,8	MCF-7	breast:
8	chr5:179104067..179106595-chr5:179220718..179223236,3	MCF-7	breast:
9	chr5:179049356..179051389-chr5:179221894..179224407,2	MCF-7	breast:
10	chr5:179221892..179226661-chr5:179285311..179287197,6	MCF-7	breast:
11	chr5:179221198..179223904-chr5:179283563..179286738,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161010	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000161021	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv518964	chr5:179193598-179227286	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
7	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
10	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
11	nsv600659	chr5:179214251-179225594	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	147 gene(s)	inside rSNPs	diseases
12	nsv600660	chr5:179214251-179231248	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
13	nsv883278	chr5:179214818-179238794	Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
14	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
15	nsv870188	chr5:179218824-179235424	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
16	nsv600661	chr5:179220010-179228623	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
17	nsv600662	chr5:179220010-179231248	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
18	nsv883280	chr5:179220010-179238794	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
19	nsv883281	chr5:179220010-179250500	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
20	nsv883282	chr5:179220638-179231248	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
21	nsv883283	chr5:179220638-179231681	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
22	nsv883284	chr5:179220638-179246415	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
23	esv3405621	chr5:179221771-179224319	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
24	nsv600663	chr5:179221789-179228369	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	148 gene(s)	inside rSNPs	diseases
25	nsv600664	chr5:179221789-179228623	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	149 gene(s)	inside rSNPs	diseases
26	nsv600665	chr5:179221789-179231248	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
27	nsv600666	chr5:179221789-179231681	Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179215600-179223200	Weak transcription	HSMMtube	muscle
2	chr5:179218600-179222800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:179219600-179222800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:179220000-179223000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:179220200-179223800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr5:179220600-179223000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr5:179220600-179223000	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr5:179220600-179224200	Weak transcription	K562	blood
9	chr5:179221000-179223000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr5:179221000-179223000	Flanking Active TSS	Colonic Mucosa	Colon
11	chr5:179221000-179223000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr5:179221000-179223600	Active TSS	Brain Substantia Nigra	brain
13	chr5:179221200-179223600	Active TSS	Rectal Smooth Muscle	rectum
14	chr5:179221400-179222800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:179221400-179222800	Weak transcription	HSMM	muscle
16	chr5:179221400-179222800	Weak transcription	NHDF-Ad	bronchial
17	chr5:179221400-179223000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:179221800-179222800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr5:179221800-179223000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:179221800-179223600	Active TSS	Brain Angular Gyrus	brain
21	chr5:179221800-179224000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr5:179221800-179224400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:179222000-179222800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:179222000-179222800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr5:179222000-179223000	Flanking Active TSS	Liver	Liver
26	chr5:179222000-179223000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr5:179222000-179223000	Flanking Active TSS	HMEC	breast
28	chr5:179222000-179223600	Active TSS	Brain Hippocampus Middle	brain
29	chr5:179222000-179223600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:179222000-179224000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:179222000-179224000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr5:179222000-179224200	Enhancers	Fetal Heart	heart
33	chr5:179222200-179222800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:179222200-179222800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:179222200-179222800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr5:179222200-179222800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr5:179222200-179222800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:179222200-179222800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:179222200-179222800	Flanking Active TSS	Right Atrium	heart
40	chr5:179222200-179223000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr5:179222200-179223000	Flanking Active TSS	Right Ventricle	heart
42	chr5:179222200-179223400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
43	chr5:179222200-179223600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:179222200-179223600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr5:179222200-179223600	Active TSS	Fetal Brain Female	brain
46	chr5:179222200-179223800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:179222200-179223800	Active TSS	Brain Anterior Caudate	brain
48	chr5:179222200-179223800	Active TSS	Fetal Kidney	kidney
49	chr5:179222200-179223800	Active TSS	Hela-S3	cervix
50	chr5:179222200-179224000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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