Variant report

Variant	nsv538676
Chromosome Location	chr7:3561252-3602457
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	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
2	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
3	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
4	chr6:34331825..34332645-chr7:3565574..3566479,2	MCF-7	breast:
5	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
6	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
7	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
8	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
9	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
10	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
11	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
12	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:

No data

Extended variants
information (count: 2513 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2513 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542310980	chr7:3561259-3561260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78549147	chr7:3561285-3561286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192365658	chr7:3561290-3561291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141063792	chr7:3561306-3561307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183252548	chr7:3561323-3561324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144804092	chr7:3561339-3561340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188662542	chr7:3561342-3561343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55878136	chr7:3561349-3561350	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs373511630	chr7:3561390-3561391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192689948	chr7:3561437-3561438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182809650	chr7:3561447-3561448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549056827	chr7:3561459-3561460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56234403	chr7:3561505-3561506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369161436	chr7:3561508-3561509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551693732	chr7:3561527-3561528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571923349	chr7:3561535-3561536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147810370	chr7:3561574-3561575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143922234	chr7:3561584-3561585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554346231	chr7:3561626-3561627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373736556	chr7:3561628-3561629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567718158	chr7:3561630-3561631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186732640	chr7:3561704-3561705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556287798	chr7:3561711-3561712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61605079	chr7:3561716-3561717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs72393888	chr7:3561763-3561764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77225733	chr7:3561767-3561768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113114476	chr7:3561768-3561769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113439868	chr7:3561769-3561770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545002958	chr7:3561779-3561780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558241087	chr7:3561780-3561781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111709117	chr7:3561787-3561788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537740176	chr7:3561843-3561844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74999528	chr7:3561874-3561875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191535589	chr7:3561974-3561975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141219623	chr7:3561976-3561977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574543532	chr7:3562003-3562004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542741638	chr7:3562005-3562006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562627489	chr7:3562020-3562021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531660625	chr7:3562106-3562107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551383087	chr7:3562118-3562119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183871689	chr7:3562131-3562132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146933743	chr7:3562137-3562138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143618572	chr7:3562172-3562173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199758274	chr7:3562181-3562182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547761641	chr7:3562191-3562192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57743735	chr7:3562215-3562216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536818556	chr7:3562235-3562236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs137856948	chr7:3562261-3562262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553006149	chr7:3562262-3562263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569790720	chr7:3562263-3562264	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:248 , 50 per page) page: 1 2 3 4 5

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	chr7:3557600-3562800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:3560400-3561600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:3560800-3561600	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:3560800-3561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:3561000-3562200	Weak transcription	Pancreas	Pancrea
8	chr7:3561600-3561800	Enhancers	Colon Smooth Muscle	Colon
9	chr7:3561600-3562600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:3561800-3563600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:3562200-3563200	Enhancers	Pancreas	Pancrea
12	chr7:3562600-3565000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr7:3562800-3564200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr7:3563000-3563800	Enhancers	Aorta	Aorta
15	chr7:3563200-3564800	Weak transcription	Pancreas	Pancrea
16	chr7:3563200-3567000	Weak transcription	Gastric	stomach
17	chr7:3564000-3564400	Enhancers	Fetal Brain Male	brain
18	chr7:3564400-3564600	Weak transcription	Fetal Brain Male	brain
19	chr7:3564600-3567400	Enhancers	Fetal Brain Male	brain
20	chr7:3564800-3565200	Enhancers	Pancreas	Pancrea
21	chr7:3565000-3565200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:3565000-3566400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:3565200-3567000	Weak transcription	Pancreas	Pancrea
24	chr7:3565200-3568000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:3566400-3567200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr7:3566400-3567200	Enhancers	Fetal Stomach	stomach
27	chr7:3567000-3567400	Weak transcription	Spleen	Spleen
28	chr7:3567000-3567600	Enhancers	Gastric	stomach
29	chr7:3567000-3567600	Enhancers	Pancreas	Pancrea
30	chr7:3567200-3567400	Enhancers	Right Ventricle	heart
31	chr7:3567200-3569200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:3567400-3567600	Enhancers	Spleen	Spleen
33	chr7:3567600-3568200	Weak transcription	Pancreas	Pancrea
34	chr7:3567600-3572000	Weak transcription	Gastric	stomach
35	chr7:3567600-3579800	Weak transcription	Spleen	Spleen
36	chr7:3568200-3569600	Enhancers	Pancreas	Pancrea
37	chr7:3569000-3569400	Enhancers	Right Ventricle	heart
38	chr7:3569200-3572800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:3569600-3572000	Weak transcription	Pancreas	Pancrea
40	chr7:3572000-3572600	Enhancers	Gastric	stomach
41	chr7:3572000-3572600	Enhancers	Pancreas	Pancrea
42	chr7:3572600-3584600	Weak transcription	Pancreas	Pancrea
43	chr7:3572800-3573200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:3572800-3573600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr7:3572800-3573600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:3573200-3573600	Enhancers	Primary T cells from cord blood	blood
47	chr7:3573200-3573600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:3573600-3573800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr7:3573600-3574000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr7:3573800-3576200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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