Variant report

Variant	nsv293502
Chromosome Location	chr4:165709659-165718617
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	chr4:165717917..165720004-chr4:165723969..165725996,2	MCF-7	breast:

Extended variants
information (count: 319 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:319 , 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	rs563835759	chr4:165709705-165709706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528273540	chr4:165709733-165709734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141402628	chr4:165709776-165709777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568029718	chr4:165709777-165709778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529158133	chr4:165709785-165709786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147676716	chr4:165709825-165709826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550578082	chr4:165709844-165709845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184496316	chr4:165709857-165709858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539437698	chr4:165709880-165709881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574842504	chr4:165709881-165709882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558276185	chr4:165709884-165709885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566921870	chr4:165709885-165709886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6855245	chr4:165709887-165709888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555971283	chr4:165709918-165709919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189939027	chr4:165709935-165709936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117725019	chr4:165709947-165709948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542611226	chr4:165709986-165709987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4420937	chr4:165710080-165710081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577512479	chr4:165710096-165710097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567613262	chr4:165710148-165710149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181626650	chr4:165710169-165710170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56373268	chr4:165710214-165710215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369514617	chr4:165710215-165710216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545437092	chr4:165710216-165710217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397936242	chr4:165710218-165710219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112197275	chr4:165710227-165710228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116279608	chr4:165710311-165710312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528139106	chr4:165710331-165710332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35162910	chr4:165710381-165710382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550519905	chr4:165710417-165710418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146783722	chr4:165710451-165710452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7668032	chr4:165710503-165710504	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs73003153	chr4:165710558-165710559	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559572281	chr4:165710578-165710579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186347996	chr4:165710585-165710586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140501948	chr4:165710624-165710625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150416679	chr4:165710653-165710654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566376078	chr4:165710657-165710658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566995185	chr4:165710672-165710673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534319039	chr4:165710782-165710783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538437115	chr4:165710814-165710815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549486274	chr4:165710930-165710931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545191613	chr4:165710987-165710988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368200302	chr4:165711020-165711021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191302642	chr4:165711037-165711038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556819987	chr4:165711038-165711039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6536851	chr4:165711094-165711095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181001890	chr4:165711107-165711108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569105474	chr4:165711109-165711110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539432728	chr4:165711181-165711182	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	17603634	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
Lung cancer	19208797	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
Breast cancer	17393978	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
Congenital diaphragmatic hernia	21085971	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
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165687200-165710800	Weak transcription	Fetal Intestine Small	intestine
2	chr4:165705600-165710000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:165705600-165710200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:165705600-165710200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:165705600-165710400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:165705600-165710800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:165705800-165710200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:165705800-165710200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:165708000-165711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:165710000-165711000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:165710000-165711200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:165710200-165711200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:165710200-165711400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:165710200-165711400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:165710200-165711600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:165710400-165711400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:165710800-165711200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:165710800-165711400	Enhancers	Fetal Intestine Large	intestine
19	chr4:165710800-165711600	Enhancers	Fetal Intestine Small	intestine
20	chr4:165711000-165711200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr4:165711200-165717000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:165711400-165713200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:165711600-165712000	Weak transcription	Fetal Intestine Small	intestine
24	chr4:165712000-165712200	Enhancers	Fetal Intestine Small	intestine
25	chr4:165712200-165717000	Weak transcription	Fetal Intestine Small	intestine
26	chr4:165715200-165715400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:165716600-165723400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:165717000-165717400	Enhancers	Fetal Intestine Small	intestine
29	chr4:165717000-165717600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr4:165717000-165717800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:165717400-165718200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:165717400-165723400	Weak transcription	Fetal Intestine Small	intestine
33	chr4:165717600-165717800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:165717600-165718200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:165717600-165719800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:165717800-165718200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:165717800-165720000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:165717800-165728400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:165718200-165718400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:165718200-165719800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:165718200-165719800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:165718200-165720000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:165718400-165719800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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