Variant report

Variant	nsv971523
Chromosome Location	chr7:18566197-18569942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540557588	chr7:18566199-18566200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560806262	chr7:18566204-18566205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1527271	chr7:18566230-18566231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373741031	chr7:18566244-18566245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562758718	chr7:18566263-18566264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186456795	chr7:18566342-18566343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546194321	chr7:18566346-18566347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368225666	chr7:18566388-18566389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564441194	chr7:18566412-18566413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112001278	chr7:18566430-18566431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190885969	chr7:18566444-18566445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142827797	chr7:18566482-18566483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532719756	chr7:18566490-18566491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529434278	chr7:18566502-18566503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552691638	chr7:18566595-18566596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182370331	chr7:18566611-18566612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145067038	chr7:18566634-18566635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138836704	chr7:18566635-18566636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557701089	chr7:18566650-18566651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376649151	chr7:18566670-18566671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187529502	chr7:18566698-18566699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149347071	chr7:18566708-18566709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34285752	chr7:18566730-18566731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555160279	chr7:18566738-18566739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568448090	chr7:18566758-18566759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573915434	chr7:18566807-18566808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539663190	chr7:18566811-18566812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112029872	chr7:18566838-18566839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544400641	chr7:18566910-18566911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192978349	chr7:18566941-18566942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577975587	chr7:18566965-18566966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116311946	chr7:18566971-18566972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144702293	chr7:18566975-18566976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528471449	chr7:18566992-18566993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540759490	chr7:18567010-18567011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148166208	chr7:18567039-18567040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529473512	chr7:18567063-18567064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372611214	chr7:18567086-18567087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550733007	chr7:18567101-18567102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561581151	chr7:18567149-18567150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562856479	chr7:18567215-18567216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533404799	chr7:18567261-18567262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs801767	chr7:18567280-18567281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566503365	chr7:18567316-18567317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533539445	chr7:18567431-18567432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549092571	chr7:18567455-18567456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144098824	chr7:18567474-18567475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147288579	chr7:18567494-18567495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140938989	chr7:18567503-18567504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577999786	chr7:18567578-18567579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18551400-18568400	Weak transcription	Aorta	Aorta
2	chr7:18553400-18569600	Weak transcription	Left Ventricle	heart
3	chr7:18555200-18580800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:18555400-18566200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:18556200-18575600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:18560400-18574000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:18560600-18568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:18560600-18584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:18560800-18568400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:18561000-18592600	Weak transcription	NHEK	skin
11	chr7:18561000-18598000	Weak transcription	HMEC	breast
12	chr7:18561400-18575600	Weak transcription	NHDF-Ad	bronchial
13	chr7:18562000-18567600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:18562000-18575600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:18562400-18569800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:18562800-18568600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:18563400-18574400	Weak transcription	Brain Substantia Nigra	brain
18	chr7:18565200-18566600	Enhancers	Fetal Heart	heart
19	chr7:18565200-18570600	Enhancers	Primary B cells from cord blood	blood
20	chr7:18565400-18566600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:18565400-18566800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr7:18565400-18568200	Enhancers	Primary B cells from peripheral blood	blood
23	chr7:18565600-18566200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:18565800-18566600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:18565800-18569800	Weak transcription	Psoas Muscle	Psoas
26	chr7:18566000-18566400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:18566200-18566400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:18566200-18567800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:18566200-18568000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:18566400-18574000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:18566600-18568400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:18566600-18580200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:18566800-18567000	Enhancers	GM12878-XiMat	blood
34	chr7:18566800-18568200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:18567000-18569800	Weak transcription	GM12878-XiMat	blood
36	chr7:18567600-18567800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:18567800-18568200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:18568000-18568400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:18568200-18568800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:18568200-18569000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:18568200-18569000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr7:18568400-18568600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:18568400-18568800	Active TSS	Aorta	Aorta
44	chr7:18568400-18569000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:18568400-18569000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:18568400-18569200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:18568400-18570200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:18568600-18569400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:18568600-18573600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:18568800-18569000	Flanking Active TSS	Aorta	Aorta

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