Variant report

Variant	nsv980223
Chromosome Location	chr4:80259303-80276903
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	chr16:33957128..33958102-chr4:80274126..80274833,2	MCF-7	breast:
2	chr4:80256204..80257804-chr4:80261590..80263826,2	K562	blood:

Extended variants
information (count: 649 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552799695	chr4:80261414-80261415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs186700498	chr4:80261450-80261451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs544790258	chr4:80261453-80261454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs192162988	chr4:80261462-80261463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs565812344	chr4:80261487-80261488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs116378959	chr4:80261522-80261523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs10050068	chr4:80261581-80261582	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184885494	chr4:80261583-80261584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs144834446	chr4:80261592-80261593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532483120	chr4:80265604-80265605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs529001650	chr4:80265605-80265606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs376561248	chr4:80265613-80265614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs377659865	chr4:80265614-80265615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370186362	chr4:80265660-80265661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565337780	chr4:80265670-80265671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191970412	chr4:80265677-80265678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551695930	chr4:80265699-80265700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571892932	chr4:80265709-80265710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184521361	chr4:80265717-80265718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557552077	chr4:80265719-80265720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs534717499	chr4:80265740-80265741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs150489654	chr4:80265774-80265775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs536749035	chr4:80265779-80265780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs115319477	chr4:80265813-80265814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138468620	chr4:80265848-80265849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539019314	chr4:80265866-80265867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532120458	chr4:80265890-80265891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1601201	chr4:80265946-80265947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543319244	chr4:80265970-80265971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374952133	chr4:80265991-80265992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142970451	chr4:80266020-80266021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7659563	chr4:80266141-80266142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs146114110	chr4:80266144-80266145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6534343	chr4:80266182-80266183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528107987	chr4:80266187-80266188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563724860	chr4:80266259-80266260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574177951	chr4:80266262-80266263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77596331	chr4:80266285-80266286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190560275	chr4:80266298-80266299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549963462	chr4:80266320-80266321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550568527	chr4:80266335-80266336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74623496	chr4:80266416-80266417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368152343	chr4:80266419-80266420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568845304	chr4:80266440-80266441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370282359	chr4:80266480-80266481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6821795	chr4:80266495-80266496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536831833	chr4:80266507-80266508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547150695	chr4:80266508-80266509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566952249	chr4:80266510-80266511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539109742	chr4:80266522-80266523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80261400-80261600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:80265600-80265800	ZNF genes & repeats	Colon Smooth Muscle	Colon
3	chr4:80265800-80273400	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:80267400-80268800	Enhancers	Adipose Nuclei	Adipose
5	chr4:80267800-80268400	Enhancers	Stomach Smooth Muscle	stomach
6	chr4:80268400-80273600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:80268800-80273400	Weak transcription	Adipose Nuclei	Adipose
8	chr4:80271600-80272200	Enhancers	Dnd41	blood
9	chr4:80273400-80273600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
10	chr4:80273400-80273600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr4:80273400-80273600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr4:80273400-80273600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:80273400-80273600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
14	chr4:80273400-80273600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
15	chr4:80273400-80273600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr4:80273400-80273600	Bivalent Enhancer	Psoas Muscle	Psoas
17	chr4:80273400-80273600	ZNF genes & repeats	Dnd41	blood
18	chr4:80273400-80273800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr4:80273400-80274000	Flanking Bivalent TSS/Enh	Gastric	stomach
20	chr4:80273400-80274000	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
21	chr4:80273400-80274400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
22	chr4:80273400-80274400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:80273400-80274800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:80273400-80274800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:80273400-80274800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:80273400-80274800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:80273400-80274800	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr4:80273400-80274800	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr4:80273400-80274800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
30	chr4:80273400-80274800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr4:80273400-80274800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:80273400-80274800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr4:80273400-80274800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:80273400-80274800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:80273400-80274800	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr4:80273400-80274800	ZNF genes & repeats	Colon Smooth Muscle	Colon
37	chr4:80273400-80274800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr4:80273400-80274800	ZNF genes & repeats	Ovary	ovary
39	chr4:80273400-80274800	ZNF genes & repeats	HUVEC	blood vessel
40	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
41	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
42	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
45	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:80273600-80273800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
49	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links