Variant report

Variant	nsv966748
Chromosome Location	chr7:4141974-4156641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4143002..4143685-chr7:4518859..4519662,3	MCF-7	breast:
2	chr7:4149016..4150999-chr7:4154652..4156380,2	K562	blood:
3	chr7:4149016..4150999-chr7:4154652..4156380,2	K562	blood:
4	chr7:4130773..4135650-chr7:4142053..4144303,4	MCF-7	breast:

Extended variants
information (count: 868 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:868 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566690542	chr7:4141976-4141977	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs545980814	chr7:4141998-4141999	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs559701124	chr7:4142003-4142004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs1880859	chr7:4142012-4142013	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs528370170	chr7:4142020-4142021	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs541878486	chr7:4142021-4142022	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs57187147	chr7:4142033-4142034	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142503549	chr7:4142044-4142045	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs116106386	chr7:4142048-4142049	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs570403114	chr7:4142114-4142115	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs145961851	chr7:4142131-4142132	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs577919248	chr7:4142144-4142145	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs61475523	chr7:4142145-4142146	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566053495	chr7:4142154-4142155	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs534963604	chr7:4142197-4142198	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs554700159	chr7:4142213-4142214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568433075	chr7:4142234-4142235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191967212	chr7:4142244-4142245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536999921	chr7:4142249-4142250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557437947	chr7:4142250-4142251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373648086	chr7:4142267-4142268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577233783	chr7:4142296-4142297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557370434	chr7:4142345-4142346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546044116	chr7:4142388-4142389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553183717	chr7:4142389-4142390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181626626	chr7:4142395-4142396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575562417	chr7:4142398-4142399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542138372	chr7:4142399-4142400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561578150	chr7:4142428-4142429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575196867	chr7:4142431-4142432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186143190	chr7:4142441-4142442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139830562	chr7:4142453-4142454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367751226	chr7:4142465-4142466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78900045	chr7:4142527-4142528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559504690	chr7:4142541-4142542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528799214	chr7:4142546-4142547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140336494	chr7:4142584-4142585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539646466	chr7:4142587-4142588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34174910	chr7:4142588-4142589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561110469	chr7:4142612-4142613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568619464	chr7:4142630-4142631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537469928	chr7:4142656-4142657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550673820	chr7:4142664-4142665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11977011	chr7:4142687-4142688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539927009	chr7:4142690-4142691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553247108	chr7:4142706-4142707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573074258	chr7:4142715-4142716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535247678	chr7:4142717-4142718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555640640	chr7:4142725-4142726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575413422	chr7:4142740-4142741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4119400-4153000	Weak transcription	Gastric	stomach
2	chr7:4129400-4150000	Weak transcription	Pancreas	Pancrea
3	chr7:4131800-4143400	Weak transcription	Fetal Intestine Small	intestine
4	chr7:4132400-4180200	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:4137200-4149400	Weak transcription	Aorta	Aorta
6	chr7:4139800-4142000	Enhancers	Spleen	Spleen
7	chr7:4139800-4142200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:4139800-4143200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:4140800-4149000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:4141200-4142400	Enhancers	Fetal Muscle Trunk	muscle
11	chr7:4141400-4142000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:4141400-4142000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:4141400-4142000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:4141400-4142200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:4141400-4142200	Enhancers	Fetal Lung	lung
16	chr7:4141400-4142400	Enhancers	Fetal Brain Male	brain
17	chr7:4141400-4142400	Enhancers	Fetal Brain Female	brain
18	chr7:4141400-4144000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:4141600-4142000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr7:4141600-4142200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:4141600-4142200	Enhancers	Fetal Stomach	stomach
22	chr7:4141600-4142400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:4141800-4142200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr7:4142000-4145400	Weak transcription	Spleen	Spleen
25	chr7:4142000-4150200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:4142200-4142400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:4142200-4153400	Weak transcription	Fetal Lung	lung
28	chr7:4142400-4149600	Weak transcription	Fetal Brain Male	brain
29	chr7:4142400-4158800	Weak transcription	Fetal Brain Female	brain
30	chr7:4143200-4143400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:4143200-4143400	Flanking Active TSS	K562	blood
32	chr7:4143200-4143600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr7:4143200-4143600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:4143200-4143600	Enhancers	A549	lung
35	chr7:4143400-4143600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:4143400-4143600	Active TSS	K562	blood
37	chr7:4143400-4144000	Strong transcription	Fetal Intestine Small	intestine
38	chr7:4143600-4146200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:4143600-4146400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:4144000-4147400	Weak transcription	Lung	lung
41	chr7:4144000-4153600	Weak transcription	Fetal Intestine Small	intestine
42	chr7:4144800-4153600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:4145200-4155000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:4145400-4145800	Enhancers	Spleen	Spleen
45	chr7:4145800-4149200	Weak transcription	Spleen	Spleen
46	chr7:4146200-4146600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:4146400-4146600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr7:4146400-4147000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr7:4146600-4146800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:4146800-4147600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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