Variant report

Variant	esv1802987
Chromosome Location	chr7:3929889-3936317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3928899..3931100-chr7:3932118..3934990,2	K562	blood:
2	chr7:3928899..3931100-chr7:3932118..3934990,2	K562	blood:
3	chr7:3931415..3933843-chr7:3939844..3942061,2	MCF-7	breast:

Extended variants
information (count: 345 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375676795	chr7:3929913-3929914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144156272	chr7:3929928-3929929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541260260	chr7:3929937-3929938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561664857	chr7:3929947-3929948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73294626	chr7:3929955-3929956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148678989	chr7:3929969-3929970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115698698	chr7:3929970-3929971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556949898	chr7:3929978-3929979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28462157	chr7:3929995-3929996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370601479	chr7:3930007-3930008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181671346	chr7:3930106-3930107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142835582	chr7:3930155-3930156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185570604	chr7:3930157-3930158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534865671	chr7:3930211-3930212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536526007	chr7:3930216-3930217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372650321	chr7:3930230-3930231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554459414	chr7:3930310-3930311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568399249	chr7:3930349-3930350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537322194	chr7:3930379-3930380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555279231	chr7:3930431-3930432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35135968	chr7:3930455-3930456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557020112	chr7:3930472-3930473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188816503	chr7:3930503-3930504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147401628	chr7:3930505-3930506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553075788	chr7:3930508-3930509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572839691	chr7:3930522-3930523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541642258	chr7:3930523-3930524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561300437	chr7:3930526-3930527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373610816	chr7:3930543-3930544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374922250	chr7:3930553-3930554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530346970	chr7:3930562-3930563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543672879	chr7:3930590-3930591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562117781	chr7:3930592-3930593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532326068	chr7:3930598-3930599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552285846	chr7:3930642-3930643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566205583	chr7:3930657-3930658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528563444	chr7:3930722-3930723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180792045	chr7:3930723-3930724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144696144	chr7:3930776-3930777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186148214	chr7:3930786-3930787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550856028	chr7:3930793-3930794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570753246	chr7:3930838-3930839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539457568	chr7:3930858-3930859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552676097	chr7:3930871-3930872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192264599	chr7:3930877-3930878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147895747	chr7:3930882-3930883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554756526	chr7:3930884-3930885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574650334	chr7:3930889-3930890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573349310	chr7:3930903-3930904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139261421	chr7:3930917-3930918	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3901200-3959600	Weak transcription	Pancreas	Pancrea
2	chr7:3906800-3949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3920600-3930600	Weak transcription	Fetal Brain Male	brain
4	chr7:3923000-3940000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:3924600-3931200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:3925800-3937600	Weak transcription	Spleen	Spleen
7	chr7:3926800-3936000	Weak transcription	Aorta	Aorta
8	chr7:3928200-3930400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:3930600-3930800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:3930600-3932800	Enhancers	Brain Germinal Matrix	brain
11	chr7:3930600-3934200	Enhancers	Fetal Brain Male	brain
12	chr7:3930800-3932800	Enhancers	Fetal Brain Female	brain
13	chr7:3931000-3932000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:3931200-3934400	Enhancers	Fetal Muscle Leg	muscle
15	chr7:3931400-3932600	Enhancers	Brain Angular Gyrus	brain
16	chr7:3931600-3932400	Enhancers	Fetal Lung	lung
17	chr7:3931600-3933000	Enhancers	Brain Hippocampus Middle	brain
18	chr7:3931800-3932000	Enhancers	Placenta	Placenta
19	chr7:3931800-3932600	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:3931800-3932800	Enhancers	Brain Anterior Caudate	brain
21	chr7:3931800-3933600	Enhancers	Psoas Muscle	Psoas
22	chr7:3931800-3934200	Enhancers	Fetal Muscle Trunk	muscle
23	chr7:3932000-3932600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr7:3932000-3932600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:3932000-3932600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:3932000-3932600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:3932000-3933400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:3932200-3932400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:3932400-3933400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:3932400-3934200	Enhancers	Colon Smooth Muscle	Colon
31	chr7:3932400-3935200	Weak transcription	Fetal Lung	lung
32	chr7:3932600-3932800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:3932600-3932800	Enhancers	Adipose Nuclei	Adipose
34	chr7:3932600-3933400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:3932600-3939200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:3932800-3936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:3932800-3939200	Weak transcription	Brain Anterior Caudate	brain
38	chr7:3933000-3939200	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:3933200-3935800	Weak transcription	Adipose Nuclei	Adipose
40	chr7:3933400-3934000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:3933400-3934200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:3933400-3934200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:3933600-3935800	Weak transcription	Psoas Muscle	Psoas
44	chr7:3934000-3934200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:3934200-3935000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:3934200-3935800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr7:3934200-3935800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:3934200-3936000	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:3934200-3937200	Weak transcription	Fetal Brain Male	brain
50	chr7:3934400-3935200	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links