Variant report

Variant	nsv605909
Chromosome Location	chr7:3605340-3638547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3610768..3613073-chr7:3628327..3630622,2	MCF-7	breast:
2	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
3	chr7:3624042..3625672-chr7:3626577..3628999,2	MCF-7	breast:
4	chr7:3521696..3522495-chr7:3631928..3632648,2	MCF-7	breast:
5	chr7:3624042..3625672-chr7:3626577..3628999,2	MCF-7	breast:
6	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
7	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
8	chr7:3610768..3613073-chr7:3628327..3630622,2	MCF-7	breast:
9	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
10	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:

No data

Extended variants
information (count: 2257 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2257 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2614942	chr7:3605340-3605341	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568174123	chr7:3605371-3605372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190197051	chr7:3605380-3605381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141284736	chr7:3605403-3605404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576874980	chr7:3605415-3605416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546112553	chr7:3605421-3605422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554871200	chr7:3605430-3605431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573034102	chr7:3605449-3605450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541668944	chr7:3605480-3605481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150339630	chr7:3605488-3605489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530155613	chr7:3605489-3605490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543474973	chr7:3605523-3605524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563374800	chr7:3605526-3605527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532378003	chr7:3605543-3605544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138868358	chr7:3605544-3605545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182808421	chr7:3605572-3605573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142014568	chr7:3605595-3605596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548805282	chr7:3605603-3605604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146307697	chr7:3605622-3605623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531760918	chr7:3605629-3605630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139554413	chr7:3605630-3605631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142758681	chr7:3605639-3605640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186719573	chr7:3605642-3605643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533324510	chr7:3605643-3605644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571273377	chr7:3605652-3605653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190930301	chr7:3605661-3605662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552891929	chr7:3605682-3605683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551942569	chr7:3605719-3605720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573057325	chr7:3605720-3605721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34513282	chr7:3605755-3605756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182638639	chr7:3605773-3605774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188899763	chr7:3605775-3605776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575077534	chr7:3605807-3605808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543536010	chr7:3605812-3605813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563436580	chr7:3605849-3605850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530499281	chr7:3605850-3605851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200149247	chr7:3605856-3605857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568790658	chr7:3605857-3605858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532577730	chr7:3605859-3605860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548702082	chr7:3605887-3605888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376094583	chr7:3605943-3605944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7776776	chr7:3605944-3605945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs193101438	chr7:3606047-3606048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568705780	chr7:3606049-3606050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531105531	chr7:3606056-3606057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373351691	chr7:3606078-3606079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570463275	chr7:3606092-3606093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539472011	chr7:3606093-3606094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5022333	chr7:3606099-3606100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566428468	chr7:3606108-3606109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3600600-3616600	Weak transcription	Gastric	stomach
2	chr7:3604600-3605400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr7:3604600-3605400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:3605200-3609000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:3606600-3607200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:3606800-3607200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:3607200-3612400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:3607400-3607800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3607800-3608800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:3608000-3612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:3608800-3609200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:3608800-3610400	Enhancers	HepG2	liver
13	chr7:3609000-3609800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:3609000-3610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:3609000-3610200	Enhancers	Pancreas	Pancrea
16	chr7:3609200-3614000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:3610000-3612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:3610200-3615800	Weak transcription	Pancreas	Pancrea
19	chr7:3610400-3614400	Weak transcription	HepG2	liver
20	chr7:3612000-3612400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:3612200-3613400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:3612400-3613400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:3612400-3617000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:3612600-3613400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:3612600-3614000	Enhancers	Stomach Mucosa	stomach
26	chr7:3612800-3613200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:3612800-3613400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr7:3612800-3613400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:3612800-3613600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:3612800-3613800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:3613000-3613800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:3613200-3625200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:3613800-3615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:3614000-3614400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:3614000-3614400	Weak transcription	Stomach Mucosa	stomach
36	chr7:3614400-3616400	Enhancers	HepG2	liver
37	chr7:3614400-3616600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:3614400-3617000	Enhancers	Stomach Mucosa	stomach
39	chr7:3614800-3615000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr7:3615600-3616000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr7:3615800-3616000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:3615800-3617200	Enhancers	Pancreas	Pancrea
43	chr7:3616600-3617000	ZNF genes & repeats	Gastric	stomach
44	chr7:3616600-3617200	ZNF genes & repeats	Aorta	Aorta
45	chr7:3616600-3617600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:3617000-3619200	Weak transcription	Stomach Mucosa	stomach
47	chr7:3617200-3620400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:3617200-3622600	Weak transcription	Pancreas	Pancrea
49	chr7:3617400-3618200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:3617400-3622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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