Variant report

Variant	nsv508335
Chromosome Location	chr4:174961722-174995092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174991077..174993501-chr4:175001377..175003939,2	K562	blood:
2	chr4:174976192..174978249-chr4:174979181..174981194,2	MCF-7	breast:
3	chr4:174976192..174978249-chr4:174979181..174981194,2	MCF-7	breast:

Extended variants
information (count: 802 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:802 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531543440	chr4:174961741-174961742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187869538	chr4:174961763-174961764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192297448	chr4:174961787-174961788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62336628	chr4:174961861-174961862	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536833801	chr4:174961869-174961870	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs9993131	chr4:174961902-174961903	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149847474	chr4:174961903-174961904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545145686	chr4:174961911-174961912	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547461487	chr4:174961923-174961924	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs78149237	chr4:174961925-174961926	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs572335782	chr4:174961932-174961933	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144853962	chr4:174961982-174961983	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs74654273	chr4:174962091-174962092	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185056367	chr4:174962106-174962107	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529094334	chr4:174962129-174962130	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547498124	chr4:174962131-174962132	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11133027	chr4:174962137-174962138	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539032946	chr4:174962154-174962155	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199798714	chr4:174962204-174962205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397996306	chr4:174962212-174962213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189389028	chr4:174962268-174962269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192438280	chr4:174962283-174962284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551155191	chr4:174962310-174962311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184606040	chr4:174962311-174962312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527268828	chr4:174962319-174962320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548113244	chr4:174962336-174962337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567948794	chr4:174962337-174962338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76742825	chr4:174962378-174962379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536138679	chr4:174962409-174962410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189828970	chr4:174962541-174962542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570231333	chr4:174962572-174962573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539159687	chr4:174962581-174962582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148401780	chr4:174962593-174962594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148383466	chr4:174962607-174962608	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200280595	chr4:174962625-174962626	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57304327	chr4:174962626-174962627	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58720585	chr4:174962642-174962643	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71609856	chr4:174962647-174962648	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572451389	chr4:174962666-174962667	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541058327	chr4:174962687-174962688	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538915701	chr4:174962716-174962717	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554503001	chr4:174962751-174962752	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573601365	chr4:174962772-174962773	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181380715	chr4:174962775-174962776	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186339049	chr4:174962800-174962801	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576140662	chr4:174962831-174962832	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545115129	chr4:174962832-174962833	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564824237	chr4:174962842-174962843	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570274277	chr4:174962902-174962903	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28391570	chr4:174963019-174963020	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

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
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	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
Cancer	20164919	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174958600-174961800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:174958600-174962800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:174959200-174962400	Weak transcription	Fetal Heart	heart
4	chr4:174959600-174962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:174960200-174968600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:174960400-174964000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:174961200-174964200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:174961400-174964200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:174961400-174964800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:174961600-174961800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:174961600-174962600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:174961600-174963200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:174961600-174963400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:174961600-174963400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:174961800-174962200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr4:174961800-174963400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:174961800-174964200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:174962000-174963200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:174962200-174962800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:174962400-174963400	Enhancers	Fetal Heart	heart
21	chr4:174962600-174963200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr4:174962800-174963200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr4:174962800-174963200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:174963000-174963400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:174963000-174963400	Enhancers	Colon Smooth Muscle	Colon
26	chr4:174963200-174963400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:174963200-174964600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:174963400-174963600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr4:174963400-174964400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:174964000-174964600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:174964600-174964800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:174968400-174969000	Enhancers	K562	blood
33	chr4:174968600-174969000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:174979600-174980800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr4:174980200-174980600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:174983400-174984800	Enhancers	Fetal Lung	lung
37	chr4:174984600-174984800	Enhancers	Fetal Brain Male	brain
38	chr4:174984800-174988800	Weak transcription	Fetal Lung	lung
39	chr4:174986600-174986800	Enhancers	Fetal Brain Male	brain
40	chr4:174987800-174988600	Enhancers	Colon Smooth Muscle	Colon
41	chr4:174988000-174988800	Bivalent Enhancer	Fetal Brain Male	brain
42	chr4:174988200-174988400	Enhancers	Stomach Smooth Muscle	stomach
43	chr4:174988200-174988600	Enhancers	Left Ventricle	heart
44	chr4:174988200-174989800	Enhancers	Aorta	Aorta
45	chr4:174988400-174989000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:174988600-174991200	Weak transcription	Colon Smooth Muscle	Colon
47	chr4:174988800-174989800	Enhancers	Fetal Lung	lung
48	chr4:174989000-174989800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:174989000-174989800	Enhancers	Stomach Smooth Muscle	stomach
50	chr4:174989000-174990000	Enhancers	Fetal Heart	heart

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