Variant report

Variant	nsv511271
Chromosome Location	chr4:166000195-166010815
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	chr4:166008810..166011207-chr4:166017239..166019604,2	K562	blood:
2	chr4:166006157..166008971-chr4:166032182..166034962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170088	chromatin interactions

Extended variants
information (count: 397 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:397 , 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	rs9999037	chr4:166000195-166000196	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148984473	chr4:166000197-166000198	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59386121	chr4:166000263-166000264	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34616342	chr4:166000281-166000282	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548464961	chr4:166000283-166000284	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569956104	chr4:166000297-166000298	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143747580	chr4:166000317-166000318	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558443777	chr4:166000413-166000414	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76089839	chr4:166000422-166000423	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74287105	chr4:166000428-166000429	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568164893	chr4:166000476-166000477	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190436105	chr4:166000645-166000646	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs369683604	chr4:166000654-166000655	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs34977148	chr4:166000728-166000729	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576156835	chr4:166000741-166000742	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs151083192	chr4:166000766-166000767	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs141459493	chr4:166000811-166000812	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs201065650	chr4:166000821-166000822	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs368324061	chr4:166000829-166000830	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145157032	chr4:166000861-166000862	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs556977126	chr4:166000862-166000863	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564490422	chr4:166000876-166000877	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs374995608	chr4:166000877-166000878	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs528707594	chr4:166000886-166000887	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs200586876	chr4:166000895-166000896	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs201314834	chr4:166000908-166000909	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs367897333	chr4:166000915-166000916	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs200755080	chr4:166000938-166000939	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs200266889	chr4:166000960-166000961	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373709632	chr4:166000963-166000964	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs374733693	chr4:166000999-166001000	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs533933004	chr4:166001056-166001057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114703118	chr4:166001086-166001087	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569695093	chr4:166001124-166001125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77771595	chr4:166001150-166001151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540435585	chr4:166001173-166001174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372603967	chr4:166001174-166001175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80345192	chr4:166001216-166001217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577220527	chr4:166001236-166001237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369341068	chr4:166001248-166001249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570523966	chr4:166001262-166001263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575333973	chr4:166001265-166001266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182261035	chr4:166001310-166001311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186865130	chr4:166001367-166001368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138838257	chr4:166001421-166001422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556923370	chr4:166001474-166001475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575254139	chr4:166001510-166001511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546152774	chr4:166001515-166001516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558432078	chr4:166001602-166001603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573316797	chr4:166001609-166001610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165979000-166005600	Weak transcription	Pancreas	Pancrea
2	chr4:165980400-166000400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:165980600-166005800	Weak transcription	Aorta	Aorta
4	chr4:165980600-166007000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:165982000-166000400	Weak transcription	Ovary	ovary
6	chr4:165982200-166000400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:165985000-166007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:165990600-166007000	Weak transcription	Right Ventricle	heart
9	chr4:165990800-166026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:165991400-166000600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:165991600-166008400	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:165993600-166007000	Weak transcription	Fetal Lung	lung
13	chr4:165994000-166000200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:165994200-166007800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:165994200-166008600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:165994400-166000400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:165994400-166006600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:165994600-166000200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:165994600-166000400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:165994600-166000400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:165994600-166000400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:165994600-166000400	Weak transcription	Primary T cells from cord blood	blood
23	chr4:165994600-166006000	Weak transcription	Placenta	Placenta
24	chr4:165994600-166032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:165994800-166005600	Weak transcription	Fetal Brain Female	brain
26	chr4:165994800-166006400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:165994800-166007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:165995200-166000200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:165995200-166000600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:165995400-166000400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:165995400-166000400	Weak transcription	Fetal Heart	heart
32	chr4:165995400-166000600	Weak transcription	Gastric	stomach
33	chr4:165995400-166019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr4:165995600-166000400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:165995600-166000400	Weak transcription	Small Intestine	intestine
36	chr4:165995600-166005400	Weak transcription	Lung	lung
37	chr4:165995800-166000600	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:165995800-166000800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:165995800-166005200	Weak transcription	Spleen	Spleen
40	chr4:165995800-166005600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:165995800-166007000	Weak transcription	K562	blood
42	chr4:165996000-166001400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:165996000-166002000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:165996000-166007000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:165996000-166019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:165996000-166033000	Weak transcription	Thymus	Thymus
47	chr4:165996200-166000400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:165996200-166000600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:165996200-166007000	Weak transcription	Fetal Kidney	kidney
50	chr4:165996200-166008200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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