Variant report

Variant	nsv538683
Chromosome Location	chr7:3782751-3847680
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
2	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
3	chr7:3824486..3827082-chr7:3833919..3835661,2	MCF-7	breast:
4	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
5	chr7:3828320..3832262-chr7:3833106..3836337,3	K562	blood:
6	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
7	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
8	chr7:3828320..3832262-chr7:3833106..3836337,3	K562	blood:
9	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
10	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
11	chr7:3824486..3827082-chr7:3833919..3835661,2	MCF-7	breast:
12	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:

No data

Extended variants
information (count: 3743 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3743 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375681359	chr7:3782751-3782752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566870714	chr7:3782754-3782755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566649060	chr7:3782798-3782799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535616689	chr7:3782804-3782805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs549209384	chr7:3782824-3782825	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs185083764	chr7:3782826-3782827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537799724	chr7:3782895-3782896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs6963031	chr7:3782898-3782899	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577602386	chr7:3782938-3782939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs534340708	chr7:3782950-3782951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371667875	chr7:3782961-3782962	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs553425735	chr7:3782962-3782963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551908207	chr7:3782973-3782974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs145994127	chr7:3782984-3782985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs139644725	chr7:3783009-3783010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs142867131	chr7:3783027-3783028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74644648	chr7:3783081-3783082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs544618966	chr7:3783091-3783092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs564489659	chr7:3783093-3783094	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150627744	chr7:3783108-3783109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs6964615	chr7:3783145-3783146	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558404215	chr7:3783147-3783148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs6946134	chr7:3783152-3783153	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139670146	chr7:3783155-3783156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549197230	chr7:3783161-3783162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs568999263	chr7:3783163-3783164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs149855414	chr7:3783164-3783165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs147948632	chr7:3783167-3783168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571543572	chr7:3783184-3783185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533512822	chr7:3783187-3783188	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs111841713	chr7:3783242-3783243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189092731	chr7:3783284-3783285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535987391	chr7:3783322-3783323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555529210	chr7:3783323-3783324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575782019	chr7:3783328-3783329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560254403	chr7:3783333-3783334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577212679	chr7:3783348-3783349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76814775	chr7:3783358-3783359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373371157	chr7:3783366-3783367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564596185	chr7:3783378-3783379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145592144	chr7:3783381-3783382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79885053	chr7:3783385-3783386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370061120	chr7:3783386-3783387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560518479	chr7:3783389-3783390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529399290	chr7:3783392-3783393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549533687	chr7:3783405-3783406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370813897	chr7:3783455-3783456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562683871	chr7:3783456-3783457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374895201	chr7:3783494-3783495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147716855	chr7:3783513-3783514	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
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

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3773000-3820000	Weak transcription	Pancreas	Pancrea
2	chr7:3780200-3795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3782200-3786800	Weak transcription	Primary B cells from cord blood	blood
4	chr7:3782400-3786000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:3782600-3800200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:3782800-3783200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:3786000-3787600	Enhancers	Primary B cells from peripheral blood	blood
8	chr7:3786200-3788200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:3786800-3787600	Enhancers	Primary B cells from cord blood	blood
10	chr7:3786800-3787600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:3787200-3787400	Enhancers	Fetal Lung	lung
12	chr7:3787400-3788000	Weak transcription	Fetal Lung	lung
13	chr7:3788000-3788200	Enhancers	Fetal Lung	lung
14	chr7:3788200-3790400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:3788200-3794000	Weak transcription	Fetal Lung	lung
16	chr7:3789200-3793000	Weak transcription	Fetal Brain Male	brain
17	chr7:3790000-3791600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:3790200-3791000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:3790400-3791400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr7:3790400-3794000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:3791000-3793200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:3791400-3791800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr7:3791600-3793600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:3791800-3793400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr7:3792600-3792800	Enhancers	Gastric	stomach
26	chr7:3792800-3801800	Weak transcription	Gastric	stomach
27	chr7:3793000-3793200	Enhancers	Fetal Brain Male	brain
28	chr7:3793000-3793600	Enhancers	Fetal Brain Female	brain
29	chr7:3793000-3795000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:3793000-3795000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:3793200-3793800	Weak transcription	Fetal Brain Male	brain
32	chr7:3793200-3794000	Enhancers	Brain Anterior Caudate	brain
33	chr7:3793200-3794400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:3793200-3794800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:3793200-3795000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:3793200-3795000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:3793200-3795000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:3793200-3795400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:3793400-3796600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:3793600-3794000	Enhancers	Brain Cingulate Gyrus	brain
41	chr7:3793600-3794000	Weak transcription	Fetal Brain Female	brain
42	chr7:3793600-3794200	Enhancers	Brain Germinal Matrix	brain
43	chr7:3793600-3794400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:3793600-3794600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:3793600-3794800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:3793600-3795000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:3793600-3795000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:3793600-3795600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr7:3793800-3794000	Enhancers	Brain Hippocampus Middle	brain
50	chr7:3793800-3795000	Enhancers	Fetal Brain Male	brain

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