Variant report

Variant	nsv980232
Chromosome Location	chr4:99247700-99256714
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	chr4:99181367..99183940-chr4:99249153..99251764,2	K562	blood:

Variant related genes	Relation type
ENSG00000138698	chromatin interactions
ENSG00000214559	chromatin interactions

Extended variants
information (count: 378 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573596464	chr4:99247707-99247708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540235119	chr4:99247727-99247728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558886490	chr4:99247758-99247759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73834431	chr4:99247849-99247850	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375274720	chr4:99247901-99247902	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs114821638	chr4:99247911-99247912	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562688188	chr4:99247920-99247921	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138982337	chr4:99247945-99247946	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528131992	chr4:99247949-99247950	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542422175	chr4:99247988-99247989	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560822828	chr4:99248006-99248007	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528348930	chr4:99248018-99248019	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs547266270	chr4:99248022-99248023	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546612309	chr4:99248025-99248026	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75010941	chr4:99248062-99248063	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs568684817	chr4:99248078-99248079	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76365874	chr4:99248082-99248083	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550605756	chr4:99248086-99248087	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568985588	chr4:99248088-99248089	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs35750721	chr4:99248107-99248108	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs536029208	chr4:99248111-99248112	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs557237136	chr4:99248120-99248121	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs569457582	chr4:99248198-99248199	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs141473167	chr4:99248220-99248221	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs539503341	chr4:99248255-99248256	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567096790	chr4:99248257-99248258	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs185659876	chr4:99248269-99248270	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs4699622	chr4:99248281-99248282	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577164912	chr4:99248294-99248295	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138101168	chr4:99248299-99248300	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs531817160	chr4:99248306-99248307	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs189437953	chr4:99248315-99248316	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs572895614	chr4:99248322-99248323	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs150841932	chr4:99248326-99248327	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541949150	chr4:99248347-99248348	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs560734696	chr4:99248357-99248358	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs572994093	chr4:99248410-99248411	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371816194	chr4:99248417-99248418	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs142697815	chr4:99248424-99248425	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs540278115	chr4:99248457-99248458	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs540518428	chr4:99248486-99248487	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs181029897	chr4:99248489-99248490	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186111983	chr4:99248493-99248494	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550322526	chr4:99248504-99248505	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562543078	chr4:99248520-99248521	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs543658422	chr4:99248526-99248527	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574679539	chr4:99248564-99248565	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567058669	chr4:99248566-99248567	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs116682845	chr4:99248574-99248575	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs552789967	chr4:99248602-99248603	Weak transcription Strong transcription ZNF genes & repeats	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99210200-99250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:99212400-99287800	Weak transcription	Thymus	Thymus
3	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
4	chr4:99219000-99252000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:99223800-99288000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:99225200-99253400	Weak transcription	Fetal Lung	lung
7	chr4:99231200-99249000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:99232400-99247800	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:99236600-99264400	Weak transcription	Liver	Liver
10	chr4:99236800-99253400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:99237400-99257400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:99237400-99262000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:99237600-99250000	Weak transcription	HSMM	muscle
14	chr4:99239800-99262000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:99240000-99252000	Weak transcription	Aorta	Aorta
16	chr4:99240400-99248200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:99240400-99248800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:99240400-99264200	Weak transcription	HMEC	breast
19	chr4:99241200-99248800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:99241200-99252200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:99241400-99267000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:99241600-99248800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:99241600-99248800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:99241600-99248800	Weak transcription	Primary B cells from cord blood	blood
25	chr4:99241600-99248800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:99241600-99252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:99241600-99253400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:99241800-99247800	Weak transcription	Dnd41	blood
29	chr4:99245800-99249400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:99247400-99248000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:99247400-99248200	Enhancers	Brain Anterior Caudate	brain
32	chr4:99247800-99248000	Enhancers	Brain Hippocampus Middle	brain
33	chr4:99247800-99248600	Enhancers	Brain Substantia Nigra	brain
34	chr4:99247800-99251000	ZNF genes & repeats	Dnd41	blood
35	chr4:99248000-99251400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:99248200-99250200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:99248600-99252400	Weak transcription	Brain Substantia Nigra	brain
38	chr4:99248800-99249600	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr4:99248800-99249600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:99248800-99250200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:99248800-99250400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:99248800-99250600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:99248800-99250600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr4:99249000-99249400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:99249200-99252000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:99249400-99250200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
47	chr4:99249400-99250800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr4:99249600-99249800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr4:99249600-99250000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:99249600-99250200	Strong transcription	Primary B cells from cord blood	blood

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