Variant report

Variant	nsv1017091
Chromosome Location	chr4:172975682-172989521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:172988137..172989930-chr4:172993221..172995055,2	K562	blood:
2	chr4:172977943..172980712-chr4:172981081..172983923,2	K562	blood:
3	chr4:172978945..172981586-chr4:173074547..173076699,2	K562	blood:
4	chr4:172979164..172981714-chr4:172998153..173000134,2	K562	blood:
5	chr2:166764007..166764674-chr4:172977172..172977832,2	MCF-7	breast:
6	chr4:172977943..172980712-chr4:172981081..172983923,2	K562	blood:

Variant related genes	Relation type
ENSG00000123607	chromatin interactions

Extended variants
information (count: 447 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144383318	chr4:172975696-172975697	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs558630183	chr4:172975700-172975701	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs74560549	chr4:172975749-172975750	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs564133562	chr4:172975755-172975756	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190794537	chr4:172975760-172975761	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs13144038	chr4:172975764-172975765	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557251938	chr4:172975800-172975801	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs529872120	chr4:172975832-172975833	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs543179386	chr4:172975850-172975851	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs56772460	chr4:172975884-172975885	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532423193	chr4:172975919-172975920	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs114636350	chr4:172975921-172975922	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs13150084	chr4:172975957-172975958	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs183888862	chr4:172975959-172975960	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs72986514	chr4:172975976-172975977	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542823796	chr4:172975999-172976000	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188932330	chr4:172976001-172976002	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373428747	chr4:172976050-172976051	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs60380191	chr4:172976051-172976052	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1027760	chr4:172976059-172976060	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs193152716	chr4:172976098-172976099	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557540714	chr4:172976136-172976137	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116763579	chr4:172976200-172976201	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538781987	chr4:172976223-172976224	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558673146	chr4:172976281-172976282	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146614385	chr4:172976314-172976315	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540996459	chr4:172976387-172976388	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114997870	chr4:172976416-172976417	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574636669	chr4:172976459-172976460	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543216097	chr4:172976500-172976501	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563190823	chr4:172976659-172976660	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200159179	chr4:172976702-172976703	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398083764	chr4:172976708-172976709	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7678024	chr4:172976738-172976739	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140166192	chr4:172976765-172976766	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564863002	chr4:172976804-172976805	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545920404	chr4:172976839-172976840	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1532856	chr4:172976880-172976881	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528491870	chr4:172976881-172976882	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548521625	chr4:172976929-172976930	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75059893	chr4:172976930-172976931	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78558892	chr4:172977020-172977021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183136494	chr4:172977101-172977102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187106056	chr4:172977136-172977137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143920609	chr4:172977176-172977177	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75474882	chr4:172977179-172977180	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574567006	chr4:172977223-172977224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191663741	chr4:172977260-172977261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184266688	chr4:172977273-172977274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575516720	chr4:172977295-172977296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172975600-172977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:172975600-172977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:172976000-172976800	Enhancers	GM12878-XiMat	blood
4	chr4:172976400-172977200	Enhancers	Fetal Heart	heart
5	chr4:172977000-172977200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:172977000-172980200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:172980200-172980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:172981800-172983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:172983200-172983600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:172983600-172984000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:172984000-172984400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:172984000-172985400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:172984000-172985800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:172984200-172984400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr4:172984200-172985200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:172984200-172985400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:172984400-172985400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:172984800-172985400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:172984800-172985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:172985400-172985800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:172985400-172989200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:172985800-172986400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:172985800-172989000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:172989000-172990400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:172989200-172989600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:172989400-172990400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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