Variant report

Variant	nsv1025623
Chromosome Location	chr7:3558521-3606640
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2992 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2992 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1608136	chr7:3558521-3558522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140597507	chr7:3558529-3558530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563957969	chr7:3558564-3558565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532366869	chr7:3558571-3558572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372511908	chr7:3558577-3558578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375757002	chr7:3558583-3558584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570040952	chr7:3558584-3558585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58952334	chr7:3558597-3558598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371778036	chr7:3558603-3558604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373867823	chr7:3558606-3558607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532821330	chr7:3558627-3558628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs36023534	chr7:3558632-3558633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552827703	chr7:3558649-3558650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201895713	chr7:3558699-3558700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566232204	chr7:3558755-3558756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534724839	chr7:3558793-3558794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145293461	chr7:3558834-3558835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531981118	chr7:3558854-3558855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149065598	chr7:3558867-3558868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543525881	chr7:3558872-3558873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536618641	chr7:3558897-3558898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370046388	chr7:3558959-3558960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186671773	chr7:3558963-3558964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576740501	chr7:3558967-3558968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10249752	chr7:3558975-3558976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183435300	chr7:3558981-3558982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9639598	chr7:3558984-3558985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs541563684	chr7:3558995-3558996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561206309	chr7:3559010-3559011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187322306	chr7:3559063-3559064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559347093	chr7:3559067-3559068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533263040	chr7:3559068-3559069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563645852	chr7:3559070-3559071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532858180	chr7:3559089-3559090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192963506	chr7:3559140-3559141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185378373	chr7:3559150-3559151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145837501	chr7:3559184-3559185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551767582	chr7:3559204-3559205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11461762	chr7:3559218-3559219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397716959	chr7:3559219-3559220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59228270	chr7:3559233-3559234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138715571	chr7:3559276-3559277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530591637	chr7:3559311-3559312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375151156	chr7:3559315-3559316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570065178	chr7:3559316-3559317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6955210	chr7:3559320-3559321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539354575	chr7:3559340-3559341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369157998	chr7:3559358-3559359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566690219	chr7:3559364-3559365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141158348	chr7:3559386-3559387	Weak transcription Enhancers	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:277 , 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	chr7:3554800-3563000	Weak transcription	Aorta	Aorta
3	chr7:3556200-3559800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:3557400-3559600	Weak transcription	Primary T cells from cord blood	blood
5	chr7:3557400-3559800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:3557400-3560600	Weak transcription	Pancreas	Pancrea
7	chr7:3557600-3559600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:3557600-3562800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:3558800-3559000	Enhancers	Colon Smooth Muscle	Colon
10	chr7:3559000-3560000	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:3559600-3560200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:3559600-3560400	Enhancers	HepG2	liver
13	chr7:3559600-3560600	Enhancers	Primary T cells from cord blood	blood
14	chr7:3559600-3560800	Enhancers	Fetal Heart	heart
15	chr7:3559600-3560800	Enhancers	Fetal Intestine Large	intestine
16	chr7:3559800-3560200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:3559800-3560200	Enhancers	Fetal Lung	lung
18	chr7:3559800-3560800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:3560000-3560800	Enhancers	Colon Smooth Muscle	Colon
20	chr7:3560000-3561000	Enhancers	Stomach Mucosa	stomach
21	chr7:3560200-3560400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr7:3560200-3560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:3560400-3561600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:3560600-3560800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:3560600-3561000	Enhancers	Pancreas	Pancrea
26	chr7:3560800-3561600	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:3560800-3561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:3561000-3562200	Weak transcription	Pancreas	Pancrea
29	chr7:3561600-3561800	Enhancers	Colon Smooth Muscle	Colon
30	chr7:3561600-3562600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:3561800-3563600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:3562200-3563200	Enhancers	Pancreas	Pancrea
33	chr7:3562600-3565000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:3562800-3564200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr7:3563000-3563800	Enhancers	Aorta	Aorta
36	chr7:3563200-3564800	Weak transcription	Pancreas	Pancrea
37	chr7:3563200-3567000	Weak transcription	Gastric	stomach
38	chr7:3564000-3564400	Enhancers	Fetal Brain Male	brain
39	chr7:3564400-3564600	Weak transcription	Fetal Brain Male	brain
40	chr7:3564600-3567400	Enhancers	Fetal Brain Male	brain
41	chr7:3564800-3565200	Enhancers	Pancreas	Pancrea
42	chr7:3565000-3565200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:3565000-3566400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:3565200-3567000	Weak transcription	Pancreas	Pancrea
45	chr7:3565200-3568000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:3566400-3567200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr7:3566400-3567200	Enhancers	Fetal Stomach	stomach
48	chr7:3567000-3567400	Weak transcription	Spleen	Spleen
49	chr7:3567000-3567600	Enhancers	Gastric	stomach
50	chr7:3567000-3567600	Enhancers	Pancreas	Pancrea

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