Variant report

Variant	nsv328596
Chromosome Location	chr5:79662132-79670063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:79666635-79666813	K562	blood:	n/a	n/a
2	BHLHE40	chr5:79667903-79668094	K562	blood:	n/a	n/a
3	CTCF	chr5:79662170-79662274	Lung_OC	lung:	n/a	n/a
4	CTCF	chr5:79665500-79665650	Caco-2	colon:	n/a	n/a
5	EP300	chr5:79667609-79667853	K562	blood:	n/a	n/a
6	GATA3	chr5:79665348-79665585	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr5:79668852-79668995	SH-SY5Y	brain:	n/a	n/a
8	KAP1	chr5:79667992-79668376	HEK293	kidney:	n/a	n/a
9	MAFF	chr5:79664804-79665069	HepG2	liver:	n/a	chr5:79664933-79664951
10	MAFF	chr5:79664845-79665045	K562	blood:	n/a	chr5:79664933-79664951
11	MAFK	chr5:79664770-79665092	IMR90	lung:	n/a	chr5:79664938-79664949 chr5:79664930-79664947 chr5:79664939-79664950 chr5:79664939-79664950
12	MAFK	chr5:79664875-79665094	K562	blood:	n/a	chr5:79664938-79664949 chr5:79664930-79664947 chr5:79664939-79664950 chr5:79664939-79664950
13	MAFK	chr5:79664786-79664989	HepG2	liver:	n/a	chr5:79664938-79664949 chr5:79664930-79664947 chr5:79664939-79664950 chr5:79664939-79664950
14	MAFK	chr5:79664790-79665120	HepG2	liver:	n/a	chr5:79664938-79664949 chr5:79664930-79664947 chr5:79664939-79664950 chr5:79664939-79664950
15	MXI1	chr5:79664160-79664208	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:79669024-79669027	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:79665299-79665719	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr5:79662664-79662677	MCF10A-Er-Src	breast:	n/a	n/a
19	SETDB1	chr5:79667886-79668372	U2OS	brain:	n/a	n/a
20	SPI1	chr5:79666032-79666459	HL-60	blood:	n/a	n/a
21	SPI1	chr5:79666272-79666463	K562	blood:	n/a	n/a
22	TCF7L2	chr5:79665307-79665698	HEK293	kidney:	n/a	chr5:79665501-79665517 chr5:79665502-79665516 chr5:79665501-79665517

No.	Distal block	Cell Line	Cell type
1	chr5:79667050..79669627-chr5:79695393..79697394,2	MCF-7	breast:
2	chr5:79551575..79553595-chr5:79663679..79666458,2	K562	blood:
3	chr5:79661953..79664110-chr5:79666632..79668233,2	K562	blood:
4	chr5:79664972..79667802-chr5:79701918..79705267,3	MCF-7	breast:
5	chr5:79661953..79664110-chr5:79666632..79668233,2	K562	blood:

Variant related genes	Relation type
RNU6-211P	TF binding region
ENSG00000039319	chromatin interactions
ENSG00000164300	chromatin interactions

Extended variants
information (count: 287 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73119875	chr5:79662152-79662153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71636219	chr5:79662153-79662154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564482518	chr5:79662216-79662217	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs533407275	chr5:79662217-79662218	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs145195483	chr5:79662279-79662280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182412429	chr5:79662319-79662320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529372308	chr5:79662325-79662326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555598179	chr5:79662359-79662360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575109564	chr5:79662365-79662366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565837493	chr5:79662372-79662373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528371502	chr5:79662413-79662414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551217938	chr5:79662432-79662433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186582088	chr5:79662433-79662434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536679132	chr5:79662488-79662489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556903724	chr5:79662561-79662562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567266821	chr5:79662592-79662593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534902256	chr5:79662628-79662629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536320299	chr5:79662634-79662635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10045551	chr5:79662689-79662690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148706139	chr5:79662733-79662734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535221444	chr5:79662740-79662741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577539984	chr5:79662799-79662800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578244499	chr5:79662859-79662860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559421786	chr5:79662870-79662871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527360242	chr5:79662910-79662911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543522618	chr5:79662912-79662913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556743334	chr5:79662932-79662933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376424735	chr5:79662981-79662982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543484406	chr5:79662992-79662993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563664985	chr5:79662996-79662997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151185015	chr5:79663029-79663030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574070139	chr5:79663078-79663079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543059130	chr5:79663094-79663095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10038576	chr5:79663095-79663096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs147895846	chr5:79663121-79663122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141627244	chr5:79663127-79663128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564872374	chr5:79663135-79663136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191809291	chr5:79663138-79663139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530684876	chr5:79663164-79663165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542890060	chr5:79663185-79663186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550330464	chr5:79663212-79663213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146992864	chr5:79663248-79663249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372066985	chr5:79663249-79663250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71636220	chr5:79663258-79663259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546716892	chr5:79663270-79663271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528786701	chr5:79663278-79663279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566570566	chr5:79663345-79663346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545267142	chr5:79663389-79663390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183634494	chr5:79663422-79663423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558366202	chr5:79663459-79663460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79660400-79664800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:79662200-79665200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:79663400-79664200	Enhancers	Brain Germinal Matrix	brain
4	chr5:79663400-79667000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:79663600-79664000	Enhancers	Brain Substantia Nigra	brain
6	chr5:79664000-79664400	Weak transcription	Brain Substantia Nigra	brain
7	chr5:79664000-79664600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:79664000-79664800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:79664200-79664600	Weak transcription	Brain Germinal Matrix	brain
10	chr5:79664400-79665400	Enhancers	Brain Substantia Nigra	brain
11	chr5:79664600-79664800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:79664600-79665000	Enhancers	Brain Hippocampus Middle	brain
13	chr5:79664600-79665200	Enhancers	Brain Germinal Matrix	brain
14	chr5:79664600-79665400	Enhancers	Brain Anterior Caudate	brain
15	chr5:79664600-79665600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:79664800-79665000	Enhancers	Brain Cingulate Gyrus	brain
17	chr5:79664800-79665200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr5:79664800-79665800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:79664800-79666000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:79664800-79666400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:79664800-79666800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:79664800-79667000	Enhancers	Brain Angular Gyrus	brain
23	chr5:79665000-79665200	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr5:79665000-79665200	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr5:79665000-79665200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr5:79665000-79665800	Enhancers	Fetal Brain Female	brain
27	chr5:79665000-79666600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:79665000-79667000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:79665200-79665400	Enhancers	Brain Hippocampus Middle	brain
30	chr5:79665200-79665400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:79665200-79665400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr5:79665200-79665600	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr5:79665200-79666800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:79665200-79666800	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:79665400-79665600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr5:79665400-79665600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr5:79665400-79665800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr5:79665400-79665800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr5:79665400-79665800	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr5:79665400-79666000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:79665400-79666600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:79665400-79666600	Enhancers	Fetal Intestine Small	intestine
43	chr5:79665400-79667000	Enhancers	Duodenum Mucosa	Duodenum
44	chr5:79665600-79666400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:79665600-79666600	Enhancers	Brain Germinal Matrix	brain
46	chr5:79665600-79666600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr5:79665600-79666600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:79665600-79666800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:79665800-79666000	Enhancers	Brain Substantia Nigra	brain
50	chr5:79665800-79666200	Enhancers	Brain Hippocampus Middle	brain

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