Variant report

Variant	esv2762656
Chromosome Location	chr7:18620004-18625610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 243 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559667580	chr7:18620010-18620011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377435922	chr7:18620021-18620022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535846510	chr7:18620027-18620028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1557696	chr7:18620049-18620050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368702033	chr7:18620065-18620066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1012658	chr7:18620081-18620082	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531117944	chr7:18620087-18620088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531047712	chr7:18620096-18620097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551142667	chr7:18620122-18620123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192288005	chr7:18620139-18620140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1629017	chr7:18620165-18620166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs552708851	chr7:18620187-18620188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376133597	chr7:18620188-18620189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114633975	chr7:18620208-18620209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535555853	chr7:18620254-18620255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141527544	chr7:18620269-18620270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35112564	chr7:18620301-18620302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575408410	chr7:18620331-18620332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545708451	chr7:18620332-18620333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146183123	chr7:18620349-18620350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573073510	chr7:18620355-18620356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547148782	chr7:18620416-18620417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540495660	chr7:18620472-18620473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559326472	chr7:18620478-18620479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529994081	chr7:18620481-18620482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370764646	chr7:18620547-18620548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182311166	chr7:18620549-18620550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550915232	chr7:18620602-18620603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35211946	chr7:18620614-18620615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539006804	chr7:18620635-18620636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3807910	chr7:18620697-18620698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552607813	chr7:18620920-18620921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530887765	chr7:18621034-18621035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190754262	chr7:18621063-18621064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570989532	chr7:18621071-18621072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369430414	chr7:18621094-18621095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2520457	chr7:18621111-18621112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569026477	chr7:18621114-18621115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568762301	chr7:18621115-18621116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182577276	chr7:18621121-18621122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536987888	chr7:18621140-18621141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144158837	chr7:18621147-18621148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569008080	chr7:18621163-18621164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557117362	chr7:18621178-18621179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539488319	chr7:18621219-18621220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187235302	chr7:18621265-18621266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573784880	chr7:18621336-18621337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572949321	chr7:18621341-18621342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3807909	chr7:18621391-18621392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552618478	chr7:18621400-18621401	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18581600-18620200	Weak transcription	HSMMtube	muscle
2	chr7:18605400-18620200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:18606800-18620600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:18606800-18631400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:18607000-18630000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:18610600-18620400	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:18610600-18629800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:18610800-18629600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:18611000-18620200	Weak transcription	Brain Substantia Nigra	brain
10	chr7:18611200-18620400	Weak transcription	Brain Germinal Matrix	brain
11	chr7:18611600-18633000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:18613000-18620400	Weak transcription	Brain Anterior Caudate	brain
13	chr7:18613200-18633200	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:18613600-18624800	Weak transcription	Left Ventricle	heart
15	chr7:18613600-18633200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:18614200-18633200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:18614400-18620200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:18614400-18620600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:18614400-18624800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr7:18614400-18630000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:18614600-18620600	Weak transcription	Right Ventricle	heart
22	chr7:18614600-18620600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:18614600-18631200	Weak transcription	Fetal Stomach	stomach
24	chr7:18614600-18633200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:18614600-18640400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:18614600-18640400	Weak transcription	Spleen	Spleen
27	chr7:18614600-18644200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:18614800-18620600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:18616000-18621000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:18616200-18630000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:18616800-18620600	Weak transcription	Fetal Heart	heart
32	chr7:18617000-18620200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:18617000-18620400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:18617000-18640400	Weak transcription	Brain Angular Gyrus	brain
35	chr7:18617200-18629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:18617400-18621400	Weak transcription	Primary B cells from cord blood	blood
37	chr7:18617400-18624200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:18618000-18623000	Weak transcription	Aorta	Aorta
39	chr7:18618400-18641000	Weak transcription	Psoas Muscle	Psoas
40	chr7:18618800-18624800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr7:18619200-18621400	Enhancers	Fetal Brain Female	brain
42	chr7:18619400-18622000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr7:18619800-18620200	Weak transcription	Fetal Brain Male	brain
44	chr7:18620000-18621800	Enhancers	Brain Cingulate Gyrus	brain
45	chr7:18620200-18621200	Enhancers	HSMM	muscle
46	chr7:18620200-18621200	Enhancers	HSMMtube	muscle
47	chr7:18620200-18621600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:18620200-18621800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:18620200-18621800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr7:18620200-18622000	Enhancers	Brain Substantia Nigra	brain

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