Variant report

Variant	nsv1022135
Chromosome Location	chr7:3601840-3618349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
2	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
3	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
4	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
5	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
6	chr7:3610768..3613073-chr7:3628327..3630622,2	MCF-7	breast:

Extended variants
information (count: 1158 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1158 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376750229	chr7:3601844-3601845	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147180289	chr7:3601865-3601866	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148539414	chr7:3601932-3601933	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561522514	chr7:3601965-3601966	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10281713	chr7:3601982-3601983	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189815424	chr7:3601985-3601986	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182267448	chr7:3601986-3601987	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549973101	chr7:3602016-3602017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114211164	chr7:3602043-3602044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142852911	chr7:3602064-3602065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186117738	chr7:3602065-3602066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150636807	chr7:3602074-3602075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190925735	chr7:3602110-3602111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145598211	chr7:3602112-3602113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113404541	chr7:3602117-3602118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534963297	chr7:3602122-3602123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75615129	chr7:3602132-3602133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545183127	chr7:3602142-3602143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537164500	chr7:3602143-3602144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373538490	chr7:3602177-3602178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76669626	chr7:3602184-3602185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139707808	chr7:3602212-3602213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143585217	chr7:3602224-3602225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559723496	chr7:3602225-3602226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573095737	chr7:3602240-3602241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527637786	chr7:3602249-3602250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541731779	chr7:3602252-3602253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561935576	chr7:3602264-3602265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530603624	chr7:3602297-3602298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549892625	chr7:3602306-3602307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182721430	chr7:3602320-3602321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142441244	chr7:3602326-3602327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368784521	chr7:3602333-3602334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532413553	chr7:3602347-3602348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7811384	chr7:3602348-3602349	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs370238834	chr7:3602373-3602374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565886219	chr7:3602404-3602405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535346476	chr7:3602407-3602408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548564913	chr7:3602411-3602412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77878609	chr7:3602413-3602414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146891071	chr7:3602418-3602419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557138821	chr7:3602432-3602433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188819491	chr7:3602454-3602455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192659213	chr7:3602471-3602472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183383677	chr7:3602473-3602474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139763344	chr7:3602498-3602499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10755849	chr7:3602501-3602502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139596427	chr7:3602508-3602509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148148187	chr7:3602520-3602521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2614944	chr7:3602524-3602525	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
Nasopharyngeal cancer	20548289	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
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3599400-3602200	Enhancers	Fetal Intestine Large	intestine
2	chr7:3600200-3602200	Enhancers	Fetal Intestine Small	intestine
3	chr7:3600600-3616600	Weak transcription	Gastric	stomach
4	chr7:3601000-3602600	Enhancers	Stomach Mucosa	stomach
5	chr7:3601200-3602000	Weak transcription	Pancreas	Pancrea
6	chr7:3601400-3602000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:3601600-3602200	Enhancers	Left Ventricle	heart
8	chr7:3602000-3602200	Enhancers	Pancreas	Pancrea
9	chr7:3602000-3602400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:3602000-3602600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:3604000-3605200	Enhancers	Primary T cells from cord blood	blood
12	chr7:3604400-3605000	Bivalent Enhancer	Dnd41	blood
13	chr7:3604600-3605000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr7:3604600-3605400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr7:3604600-3605400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr7:3604800-3605200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr7:3605200-3609000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:3606600-3607200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:3606800-3607200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:3607200-3612400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:3607400-3607800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:3607800-3608800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:3608000-3612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:3608800-3609200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:3608800-3610400	Enhancers	HepG2	liver
26	chr7:3609000-3609800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:3609000-3610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:3609000-3610200	Enhancers	Pancreas	Pancrea
29	chr7:3609200-3614000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:3610000-3612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:3610200-3615800	Weak transcription	Pancreas	Pancrea
32	chr7:3610400-3614400	Weak transcription	HepG2	liver
33	chr7:3612000-3612400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr7:3612200-3613400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:3612400-3613400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:3612400-3617000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:3612600-3613400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:3612600-3614000	Enhancers	Stomach Mucosa	stomach
39	chr7:3612800-3613200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:3612800-3613400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:3612800-3613400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:3612800-3613600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:3612800-3613800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:3613000-3613800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:3613200-3625200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:3613800-3615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:3614000-3614400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:3614000-3614400	Weak transcription	Stomach Mucosa	stomach
49	chr7:3614400-3616400	Enhancers	HepG2	liver
50	chr7:3614400-3616600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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