Variant report

Variant	nsv966486
Chromosome Location	chr4:172114410-172137862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:172107312..172109351-chr4:172113285..172116114,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GALNTL6-4	chr4:172136919-172136961	l_2776_chr4:172136918-172152369_testes

Extended variants
information (count: 70 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554675554	chr4:172123896-172123897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574464325	chr4:172123963-172123964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77304849	chr4:172123998-172123999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142415800	chr4:172124012-172124013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189431350	chr4:172124054-172124055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531974457	chr4:172124071-172124072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75804374	chr4:172124128-172124129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180900418	chr4:172124165-172124166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185565177	chr4:172124182-172124183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1388315	chr4:172124189-172124190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11722373	chr4:172124215-172124216	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376385174	chr4:172124216-172124217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535153073	chr4:172124253-172124254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375601659	chr4:172124280-172124281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568946436	chr4:172124286-172124287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538087793	chr4:172124323-172124324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557670097	chr4:172124369-172124370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577968054	chr4:172124381-172124382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11726684	chr4:172124421-172124422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532554529	chr4:172124426-172124427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35550005	chr4:172124427-172124428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6836611	chr4:172124465-172124466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190442296	chr4:172124570-172124571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543135380	chr4:172124572-172124573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563046015	chr4:172124587-172124588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151288334	chr4:172124617-172124618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560887273	chr4:172124633-172124634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529740787	chr4:172124657-172124658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545544637	chr4:172124662-172124663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141658323	chr4:172124721-172124722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527954181	chr4:172124722-172124723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147060198	chr4:172124741-172124742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373349836	chr4:172124744-172124745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376905754	chr4:172124748-172124749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6841957	chr4:172124768-172124769	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs568887486	chr4:172124798-172124799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531315605	chr4:172124804-172124805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7663283	chr4:172124830-172124831	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571487743	chr4:172124895-172124896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573184390	chr4:172124939-172124940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532229637	chr4:172124943-172124944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113030398	chr4:172124954-172124955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552498813	chr4:172124956-172124957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371830257	chr4:172124966-172124967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554148516	chr4:172125017-172125018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554149843	chr4:172125058-172125059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142339396	chr4:172125078-172125079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181981942	chr4:172125083-172125084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556294895	chr4:172125093-172125094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576450181	chr4:172125095-172125096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
primary effusion lymphomas	17116491	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
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172123800-172124400	Enhancers	Pancreas	Pancrea
2	chr4:172123800-172124400	Enhancers	A549	lung
3	chr4:172124400-172125400	Weak transcription	A549	lung
4	chr4:172124600-172125000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:172124600-172125000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:172124800-172125400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:172125400-172125600	Enhancers	A549	lung

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