Variant report

Variant	rs546997286
Chromosome Location	chr5:179223120-179223121
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179159145..179159714-chr5:179223109..179223845,2	MCF-7	breast:
2	chr5:179048548..179052839-chr5:179221765..179224480,6	MCF-7	breast:
3	chr5:179123572..179126776-chr5:179221240..179224069,3	MCF-7	breast:
4	chr5:179157523..179162988-chr5:179219694..179224698,13	MCF-7	breast:
5	chr5:179104088..179107429-chr5:179222108..179224529,3	MCF-7	breast:
6	chr5:179197877..179198480-chr5:179223009..179223771,2	MCF-7	breast:
7	chr5:179204721..179205577-chr5:179222799..179223648,2	MCF-7	breast:
8	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
9	chr5:179189767..179190816-chr5:179222590..179224521,15	MCF-7	breast:
10	chr5:179123773..179127716-chr5:179220848..179225521,8	MCF-7	breast:
11	chr5:179104067..179106595-chr5:179220718..179223236,3	MCF-7	breast:
12	chr22:43010882..43011449-chr5:179222925..179223848,2	HCT-116	colon:
13	chr5:179049356..179051389-chr5:179221894..179224407,2	MCF-7	breast:
14	chr5:179221892..179226661-chr5:179285311..179287197,6	MCF-7	breast:
15	chr5:179223013..179224914-chr5:180672992..180675408,2	MCF-7	breast:
16	chr5:179221198..179223904-chr5:179283563..179286738,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161010	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000233937	Chromatin interaction
ENSG00000204628	Chromatin interaction
ENSG00000100227	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 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
28	nsv600667	chr5:179223023-179229039	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	148 gene(s)	inside rSNPs	diseases
29	nsv883285	chr5:179223023-179238794	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	153 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	chr5:179220200-179223800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr5:179220600-179224200	Weak transcription	K562	blood
4	chr5:179221000-179223600	Active TSS	Brain Substantia Nigra	brain
5	chr5:179221200-179223600	Active TSS	Rectal Smooth Muscle	rectum
6	chr5:179221800-179223600	Active TSS	Brain Angular Gyrus	brain
7	chr5:179221800-179224000	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr5:179221800-179224400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:179222000-179223600	Active TSS	Brain Hippocampus Middle	brain
10	chr5:179222000-179223600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:179222000-179224000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr5:179222000-179224000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:179222000-179224200	Enhancers	Fetal Heart	heart
14	chr5:179222200-179223400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
15	chr5:179222200-179223600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:179222200-179223600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr5:179222200-179223600	Active TSS	Fetal Brain Female	brain
18	chr5:179222200-179223800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:179222200-179223800	Active TSS	Brain Anterior Caudate	brain
20	chr5:179222200-179223800	Active TSS	Fetal Kidney	kidney
21	chr5:179222200-179223800	Active TSS	Hela-S3	cervix
22	chr5:179222200-179224000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr5:179222200-179224000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:179222200-179224000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr5:179222200-179224000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:179222400-179223400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:179222400-179223600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:179222400-179223600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr5:179222400-179223600	Active TSS	Brain Cingulate Gyrus	brain
30	chr5:179222400-179223600	Active TSS	Duodenum Mucosa	Duodenum
31	chr5:179222400-179223600	Active TSS	Esophagus	oesophagus
32	chr5:179222400-179223600	Active TSS	Fetal Intestine Large	intestine
33	chr5:179222400-179223600	Active TSS	Fetal Intestine Small	intestine
34	chr5:179222400-179223600	Active TSS	NHLF	lung
35	chr5:179222400-179223800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr5:179222400-179223800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:179222400-179223800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr5:179222400-179223800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:179222400-179223800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:179222400-179223800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:179222400-179223800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr5:179222400-179223800	Active TSS	HepG2	liver
43	chr5:179222400-179223800	Active TSS	Osteobl	bone
44	chr5:179222400-179224000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr5:179222400-179224000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr5:179222400-179224000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr5:179222400-179224000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr5:179222400-179224000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr5:179222400-179224200	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr5:179222600-179223200	Weak transcription	Fetal Brain Male	brain

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