Variant report

Variant	nsv1021443
Chromosome Location	chr7:3705273-3889334
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
2	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
3	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
4	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
5	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
6	chr7:3879550..3881787-chr7:3882435..3885278,2	MCF-7	breast:
7	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
8	chr7:3848437..3851053-chr7:3868632..3870528,2	MCF-7	breast:
9	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
10	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
11	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
12	chr7:3734945..3735889-chr7:3936899..3937757,3	MCF-7	breast:
13	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
14	chr7:3869441..3873485-chr7:3874095..3876939,3	MCF-7	breast:
15	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
16	chr7:3828320..3832262-chr7:3833106..3836337,3	K562	blood:
17	chr7:3824486..3827082-chr7:3833919..3835661,2	MCF-7	breast:
18	chr7:3824486..3827082-chr7:3833919..3835661,2	MCF-7	breast:
19	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
20	chr7:3885725..3887398-chr7:3891256..3893555,2	K562	blood:
21	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
22	chr7:3848437..3851053-chr7:3868632..3870528,2	MCF-7	breast:
23	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
24	chr7:3828320..3832262-chr7:3833106..3836337,3	K562	blood:
25	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
26	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
27	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
28	chr7:3869441..3873485-chr7:3874095..3876939,3	MCF-7	breast:
29	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
30	chr7:3879550..3881787-chr7:3882435..3885278,2	MCF-7	breast:

No data

Extended variants
information (count: 10773 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:10773 , 50 per page) page: 1 2 3 4 5 6 7 ... 216

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533409898	chr7:3705277-3705278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116703799	chr7:3705300-3705301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560602777	chr7:3705321-3705322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112868964	chr7:3705325-3705326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529066123	chr7:3705326-3705327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549221778	chr7:3705332-3705333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs882553	chr7:3705355-3705356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs150006236	chr7:3705356-3705357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368289901	chr7:3705404-3705405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117756176	chr7:3705427-3705428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3919653	chr7:3705431-3705432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533815575	chr7:3705456-3705457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547139493	chr7:3705457-3705458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs882552	chr7:3705464-3705465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187431767	chr7:3705482-3705483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555549286	chr7:3705487-3705488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575472326	chr7:3705493-3705494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369721077	chr7:3705508-3705509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571397135	chr7:3705517-3705518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13247619	chr7:3705581-3705582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538426026	chr7:3705585-3705586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573834356	chr7:3705591-3705592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577942171	chr7:3705597-3705598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540638018	chr7:3705615-3705616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374845156	chr7:3705627-3705628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560543550	chr7:3705632-3705633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1122065	chr7:3705640-3705641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553333152	chr7:3705643-3705644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542804659	chr7:3705649-3705650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562665136	chr7:3705660-3705661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145215418	chr7:3705672-3705673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149136781	chr7:3705700-3705701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565221970	chr7:3705735-3705736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191543391	chr7:3705740-3705741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143394147	chr7:3705749-3705750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566990268	chr7:3705752-3705753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3885725	chr7:3705776-3705777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181714201	chr7:3705784-3705785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549495388	chr7:3705786-3705787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569106304	chr7:3705792-3705793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538472548	chr7:3705801-3705802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4723001	chr7:3705824-3705825	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs578198436	chr7:3705826-3705827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533912565	chr7:3705827-3705828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114376579	chr7:3705856-3705857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373302309	chr7:3705857-3705858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2568520	chr7:3705879-3705880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563014325	chr7:3705884-3705885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386709483	chr7:3705894-3705895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1972766	chr7:3705896-3705897	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:805 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3688800-3728400	Weak transcription	Aorta	Aorta
2	chr7:3694400-3705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3696000-3707800	Weak transcription	Pancreas	Pancrea
4	chr7:3704000-3709000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:3704000-3723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:3705800-3706200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:3706000-3706600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:3706200-3711600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3707800-3708400	Enhancers	Pancreas	Pancrea
10	chr7:3708400-3711600	Weak transcription	Pancreas	Pancrea
11	chr7:3708600-3723600	Weak transcription	Stomach Mucosa	stomach
12	chr7:3708800-3713000	Enhancers	Primary T cells from cord blood	blood
13	chr7:3709000-3713400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr7:3710200-3710400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr7:3710200-3710600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr7:3710200-3710800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:3710200-3710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:3710200-3712200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:3710400-3712000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr7:3710600-3711000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:3710600-3711000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:3710600-3711600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:3710600-3711800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:3710600-3712000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr7:3711000-3712000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:3711400-3712200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:3711600-3711800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:3711600-3712000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr7:3711600-3712000	Enhancers	Fetal Brain Male	brain
30	chr7:3711600-3712000	Enhancers	Pancreas	Pancrea
31	chr7:3711600-3712000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr7:3711600-3712000	Enhancers	Thymus	Thymus
33	chr7:3711800-3712200	Enhancers	Fetal Lung	lung
34	chr7:3711800-3723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:3712000-3713000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:3712000-3713200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:3712600-3713000	Enhancers	Primary B cells from peripheral blood	blood
38	chr7:3712800-3713000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:3712800-3713200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:3712800-3713200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:3713000-3713200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr7:3713000-3713400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:3713000-3721800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:3713200-3713400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr7:3716600-3716800	Enhancers	Primary B cells from peripheral blood	blood
46	chr7:3721200-3723400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:3721600-3721800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:3721600-3722000	Enhancers	HepG2	liver
49	chr7:3721600-3723200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:3721800-3722200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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