Variant report

Variant	nsv880759
Chromosome Location	chr4:172914759-172957733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:172923574..172925287-chr4:172926705..172928781,2	MCF-7	breast:
2	chr4:171180744..171181463-chr4:172955220..172956289,3	MCF-7	breast:
3	chr4:172923574..172925287-chr4:172926705..172928781,2	MCF-7	breast:
4	chr4:172767155..172768332-chr4:172954944..172955895,5	MCF-7	breast:
5	chr4:172929694..172931384-chr4:173129671..173131846,2	K562	blood:
6	chr4:172955374..172956340-chr4:173068552..173069236,2	MCF-7	breast:

Extended variants
information (count: 320 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13137476	chr4:172914759-172914760	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75819567	chr4:172914771-172914772	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184764602	chr4:172914814-172914815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190132150	chr4:172914821-172914822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72994958	chr4:172914859-172914860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139858308	chr4:172914871-172914872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574373253	chr4:172914918-172914919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71607862	chr4:172914938-172914939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540694542	chr4:172914945-172914946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181734301	chr4:172914949-172914950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567903553	chr4:172914955-172914956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563308310	chr4:172914962-172914963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532269330	chr4:172914963-172914964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552518823	chr4:172915018-172915019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559564089	chr4:172915054-172915055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528327483	chr4:172915100-172915101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7682225	chr4:172915109-172915110	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72994961	chr4:172915150-172915151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550659742	chr4:172915169-172915170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116424282	chr4:172915176-172915177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539723456	chr4:172915303-172915304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564550644	chr4:172915347-172915348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573093341	chr4:172915390-172915391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7682833	chr4:172915391-172915392	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7661597	chr4:172915415-172915416	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78838940	chr4:172915445-172915446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543516574	chr4:172915448-172915449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562983150	chr4:172915459-172915460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186490936	chr4:172915462-172915463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115895453	chr4:172915469-172915470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189780732	chr4:172915477-172915478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528290775	chr4:172915519-172915520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548356746	chr4:172915525-172915526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561929186	chr4:172915560-172915561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530880620	chr4:172915561-172915562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551083228	chr4:172915597-172915598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75678813	chr4:172915612-172915613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539491063	chr4:172915619-172915620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180782027	chr4:172915627-172915628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566778808	chr4:172915651-172915652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141672665	chr4:172915667-172915668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185445429	chr4:172915679-172915680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569453272	chr4:172915690-172915691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536723512	chr4:172915723-172915724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146235675	chr4:172915729-172915730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74574152	chr4:172915773-172915774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545860375	chr4:172915774-172915775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146857524	chr4:172929028-172929029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115976206	chr4:172929047-172929048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72698919	chr4:172929081-172929082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172905400-172915600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:172913200-172914800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:172913200-172914800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:172913600-172914800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:172914000-172914800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:172914600-172914800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr4:172914600-172915600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:172914600-172915600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:172915600-172915800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:172929000-172933400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:172929200-172930000	Enhancers	Brain Germinal Matrix	brain
12	chr4:172929400-172929800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:172929400-172929800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:172929400-172930400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:172929600-172930000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:172929600-172930000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:172929600-172930800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:172929800-172930600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr4:172929800-172930600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr4:172929800-172931200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr4:172930000-172930200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr4:172930000-172933200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:172930400-172931000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr4:172930600-172931200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr4:172930600-172933200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:172930800-172931200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr4:172931200-172932200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:172931200-172933800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:172931400-172932200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr4:172931800-172932000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr4:172931800-172932000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr4:172932000-172932200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:172932000-172932400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr4:172932000-172933400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:172932200-172932400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr4:172932200-172932600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr4:172932200-172933800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:172932400-172932600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr4:172932400-172932800	Enhancers	Dnd41	blood
40	chr4:172932400-172933600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:172932400-172933600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr4:172932600-172933400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr4:172933200-172933600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr4:172933200-172933600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:172933200-172933800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr4:172938000-172939400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:172938800-172940200	Enhancers	HMEC	breast
48	chr4:172939200-172940000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:172946600-172947000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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