Variant report

Variant	esv5590
Chromosome Location	chr4:80273659-80274719
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:

Extended variants
information (count: 194 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200232892	chr4:80273659-80273660	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs62308583	chr4:80273669-80273670	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540494439	chr4:80273674-80273675	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs76186524	chr4:80273678-80273679	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs112609716	chr4:80273687-80273688	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs62308584	chr4:80273695-80273696	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs62308585	chr4:80273699-80273700	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs62308586	chr4:80273701-80273702	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs147718248	chr4:80273702-80273703	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62308587	chr4:80273703-80273704	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200296121	chr4:80273704-80273705	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs62308588	chr4:80273719-80273720	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs199749184	chr4:80273720-80273721	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs200445405	chr4:80273727-80273728	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs538065317	chr4:80273744-80273745	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201399409	chr4:80273746-80273747	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112862899	chr4:80273751-80273752	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199696671	chr4:80273753-80273754	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200516089	chr4:80273756-80273757	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560704558	chr4:80273761-80273762	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs62308589	chr4:80273769-80273770	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs529918814	chr4:80273772-80273773	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs553388704	chr4:80273783-80273784	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs199765039	chr4:80273784-80273785	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs138245743	chr4:80273797-80273798	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs71662806	chr4:80273805-80273806	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs62308591	chr4:80273811-80273812	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs181277737	chr4:80273822-80273823	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs200665213	chr4:80273823-80273824	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs201837096	chr4:80273825-80273826	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs200116367	chr4:80273828-80273829	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs62639511	chr4:80273831-80273832	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs78988379	chr4:80273832-80273833	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs113383537	chr4:80273840-80273841	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs111215462	chr4:80273854-80273855	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs62643166	chr4:80273857-80273858	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs552592048	chr4:80273860-80273861	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs562785962	chr4:80273861-80273862	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs200579656	chr4:80273875-80273876	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs62643464	chr4:80273876-80273877	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs377091318	chr4:80273879-80273880	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs62643465	chr4:80273880-80273881	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs62643466	chr4:80273882-80273883	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs62643467	chr4:80273885-80273886	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs550493816	chr4:80273887-80273888	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs62643468	chr4:80273894-80273895	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs143664679	chr4:80273897-80273898	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs62643469	chr4:80273901-80273902	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs544827412	chr4:80273902-80273903	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs141527976	chr4:80273904-80273905	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	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:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80273400-80273800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
2	chr4:80273400-80274000	Flanking Bivalent TSS/Enh	Gastric	stomach
3	chr4:80273400-80274000	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
4	chr4:80273400-80274400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr4:80273400-80274400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:80273400-80274800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:80273400-80274800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:80273400-80274800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:80273400-80274800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:80273400-80274800	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr4:80273400-80274800	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr4:80273400-80274800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
13	chr4:80273400-80274800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr4:80273400-80274800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:80273400-80274800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr4:80273400-80274800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:80273400-80274800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:80273400-80274800	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr4:80273400-80274800	ZNF genes & repeats	Colon Smooth Muscle	Colon
20	chr4:80273400-80274800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr4:80273400-80274800	ZNF genes & repeats	Ovary	ovary
22	chr4:80273400-80274800	ZNF genes & repeats	HUVEC	blood vessel
23	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
24	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
25	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
28	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:80273600-80273800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
32	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
33	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr4:80273600-80273800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:80273600-80273800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr4:80273600-80273800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
40	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
41	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
42	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
44	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
45	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
46	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Liver	Liver
47	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
48	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
49	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
50	chr4:80273600-80273800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links