Variant report

Variant	rs368977593
Chromosome Location	chr5:179221885-179221886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179221024-179224534	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:179221292-179221938	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr5:179221174-179222543	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr5:179221485-179224536	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:179220422-179223040	GM12892	blood:	n/a	n/a
6	POLR2A	chr5:179221497-179224609	K562	blood:	n/a	n/a
7	CTCF	chr5:179221880-179222030	GM12872	blood:	n/a	n/a
8	POLR2A	chr5:179221453-179224419	GM12892	blood:	n/a	n/a
9	POLR2A	chr5:179218996-179221960	HL-60	blood:	n/a	n/a
10	POLR2A	chr5:179221681-179222047	HCT-116	colon:	n/a	n/a
11	POLR2A	chr5:179221554-179222604	K562	blood:	n/a	n/a
12	POLR2A	chr5:179221742-179222288	GM12892	blood:	n/a	n/a
13	ZEB1	chr5:179221804-179224001	HepG2	liver:	n/a	chr5:179223875-179223882
14	POLR2A	chr5:179221422-179221953	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:179220850-179224671	K562	blood:	n/a	n/a
16	POLR2A	chr5:179221596-179222519	Hela-S3	cervix:	n/a	n/a
17	ELF1	chr5:179221722-179224051	GM12878	blood:	n/a	n/a
18	FOSL2	chr5:179221534-179222083	HepG2	liver:	n/a	n/a
19	POLR2A	chr5:179221779-179221972	A549	lung:	n/a	n/a
20	POLR2A	chr5:179221560-179224673	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:179221403-179223894	GM12891	blood:	n/a	n/a
22	POLR2A	chr5:179221493-179224465	GM12891	blood:	n/a	n/a
23	POLR2A	chr5:179221699-179222144	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr5:179219447-179224493	HepG2	liver:	n/a	n/a
25	POLR2A	chr5:179221793-179222007	GM12878	blood:	n/a	n/a

No data

(count:9 , 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	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
5	chr5:179126009..179127718-chr5:179220885..179222493,2	K562	blood:
6	chr5:179123773..179127716-chr5:179220848..179225521,8	MCF-7	breast:
7	chr5:179104067..179106595-chr5:179220718..179223236,3	MCF-7	breast:
8	chr5:179124990..179127718-chr5:179220717..179222385,2	K562	blood:
9	chr5:179221198..179223904-chr5:179283563..179286738,3	MCF-7	breast:

No data

Variant related genes	Relation type
LTC4S	TF binding region
ENSG00000245317	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000127022	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179203600-179222000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:179207600-179222200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:179207600-179222600	Weak transcription	Aorta	Aorta
4	chr5:179207800-179222200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:179209400-179222200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:179215600-179223200	Weak transcription	HSMMtube	muscle
7	chr5:179218600-179222800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:179218800-179222000	Enhancers	Liver	Liver
9	chr5:179219400-179222200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:179219400-179222400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:179219400-179222400	Enhancers	Primary B cells from cord blood	blood
12	chr5:179219600-179222400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:179219600-179222400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:179219600-179222800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:179219800-179222200	Weak transcription	Fetal Brain Female	brain
16	chr5:179220000-179222200	Enhancers	Fetal Lung	lung
17	chr5:179220000-179223000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:179220200-179222000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr5:179220200-179222000	Enhancers	GM12878-XiMat	blood
20	chr5:179220200-179222200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:179220200-179222200	Weak transcription	Brain Germinal Matrix	brain
22	chr5:179220200-179222200	Enhancers	Pancreas	Pancrea
23	chr5:179220200-179222200	Enhancers	Stomach Mucosa	stomach
24	chr5:179220200-179222400	Enhancers	Primary T cells from cord blood	blood
25	chr5:179220200-179222400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:179220200-179223800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr5:179220400-179222000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:179220400-179222000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:179220400-179222200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr5:179220400-179222200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:179220400-179222600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:179220400-179222600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr5:179220600-179222000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr5:179220600-179222000	Enhancers	HMEC	breast
35	chr5:179220600-179222000	Enhancers	NHEK	skin
36	chr5:179220600-179222200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr5:179220600-179222400	Enhancers	Primary B cells from peripheral blood	blood
38	chr5:179220600-179222400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:179220600-179222400	Enhancers	NHLF	lung
40	chr5:179220600-179223000	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr5:179220600-179223000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr5:179220600-179224200	Weak transcription	K562	blood
43	chr5:179220800-179222200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr5:179220800-179222200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:179221000-179222000	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr5:179221000-179222200	Enhancers	Colon Smooth Muscle	Colon
47	chr5:179221000-179222200	Genic enhancers	Fetal Intestine Small	intestine
48	chr5:179221000-179222400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr5:179221000-179223000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr5:179221000-179223000	Flanking Active TSS	Colonic Mucosa	Colon

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