Variant report

Variant	nsv605905
Chromosome Location	chr7:3556132-3605340
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
2	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
3	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
4	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
5	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
6	chr6:34331825..34332645-chr7:3565574..3566479,2	MCF-7	breast:
7	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
8	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
9	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
10	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
11	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
12	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
13	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
14	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:

No data

Extended variants
information (count: 3020 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3020 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1108879	chr7:3556132-3556133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573670857	chr7:3556170-3556171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192546296	chr7:3556195-3556196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184187428	chr7:3556224-3556225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531326035	chr7:3556239-3556240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551745026	chr7:3556310-3556311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370067457	chr7:3556313-3556314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145773557	chr7:3556322-3556323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527513969	chr7:3556354-3556355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577284975	chr7:3556369-3556370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187538366	chr7:3556380-3556381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547624599	chr7:3556397-3556398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567409976	chr7:3556399-3556400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373315284	chr7:3556404-3556405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138630929	chr7:3556453-3556454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549449967	chr7:3556473-3556474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569203067	chr7:3556497-3556498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544162243	chr7:3556499-3556500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537828051	chr7:3556508-3556509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34164934	chr7:3556514-3556515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35791987	chr7:3556548-3556549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577932764	chr7:3556574-3556575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373474170	chr7:3556594-3556595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368724133	chr7:3556640-3556641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142912880	chr7:3556655-3556656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111626447	chr7:3556673-3556674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574136892	chr7:3556680-3556681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139744367	chr7:3556689-3556690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562598708	chr7:3556690-3556691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192895247	chr7:3556695-3556696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540426097	chr7:3556712-3556713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201192482	chr7:3556813-3556814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560875649	chr7:3556826-3556827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564831366	chr7:3556830-3556831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184915714	chr7:3556841-3556842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377192931	chr7:3556905-3556906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189372980	chr7:3556965-3556966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180767220	chr7:3557033-3557034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527853207	chr7:3557068-3557069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73035934	chr7:3557123-3557124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549239278	chr7:3557134-3557135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74624639	chr7:3557139-3557140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183848449	chr7:3557141-3557142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551383324	chr7:3557158-3557159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57109339	chr7:3557161-3557162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76471558	chr7:3557163-3557164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534230842	chr7:3557183-3557184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563983227	chr7:3557187-3557188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554436076	chr7:3557232-3557233	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs567808443	chr7:3557244-3557245	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3549400-3577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3550800-3557200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3551600-3557000	Weak transcription	Pancreas	Pancrea
4	chr7:3554800-3563000	Weak transcription	Aorta	Aorta
5	chr7:3555800-3556200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:3556200-3557600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:3556200-3559800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:3557000-3557400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:3557000-3557400	Enhancers	Primary T cells from cord blood	blood
10	chr7:3557000-3557400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr7:3557000-3557400	Enhancers	Pancreas	Pancrea
12	chr7:3557000-3557600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr7:3557000-3557600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:3557200-3557400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:3557200-3557400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:3557200-3557400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
17	chr7:3557200-3557600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:3557400-3559600	Weak transcription	Primary T cells from cord blood	blood
19	chr7:3557400-3559800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:3557400-3560600	Weak transcription	Pancreas	Pancrea
21	chr7:3557600-3559600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:3557600-3562800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:3558800-3559000	Enhancers	Colon Smooth Muscle	Colon
24	chr7:3559000-3560000	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:3559600-3560200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:3559600-3560400	Enhancers	HepG2	liver
27	chr7:3559600-3560600	Enhancers	Primary T cells from cord blood	blood
28	chr7:3559600-3560800	Enhancers	Fetal Heart	heart
29	chr7:3559600-3560800	Enhancers	Fetal Intestine Large	intestine
30	chr7:3559800-3560200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:3559800-3560200	Enhancers	Fetal Lung	lung
32	chr7:3559800-3560800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr7:3560000-3560800	Enhancers	Colon Smooth Muscle	Colon
34	chr7:3560000-3561000	Enhancers	Stomach Mucosa	stomach
35	chr7:3560200-3560400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr7:3560200-3560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:3560400-3561600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:3560600-3560800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:3560600-3561000	Enhancers	Pancreas	Pancrea
40	chr7:3560800-3561600	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:3560800-3561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:3561000-3562200	Weak transcription	Pancreas	Pancrea
43	chr7:3561600-3561800	Enhancers	Colon Smooth Muscle	Colon
44	chr7:3561600-3562600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr7:3561800-3563600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:3562200-3563200	Enhancers	Pancreas	Pancrea
47	chr7:3562600-3565000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr7:3562800-3564200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr7:3563000-3563800	Enhancers	Aorta	Aorta
50	chr7:3563200-3564800	Weak transcription	Pancreas	Pancrea

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