Variant report

Variant	esv2757218
Chromosome Location	chr7:18767714-18801340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:18764685..18767468-chr7:18769074..18771376,2	K562	blood:
2	chr7:18754975..18757924-chr7:18766761..18768655,2	K562	blood:

Extended variants
information (count: 1681 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1681 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1178128	chr7:18767714-18767715	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111241372	chr7:18767725-18767726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560070679	chr7:18767744-18767745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201832899	chr7:18767773-18767774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185843865	chr7:18767782-18767783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542746784	chr7:18767792-18767793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149454593	chr7:18767918-18767919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144622634	chr7:18767927-18767928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550323164	chr7:18768009-18768010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200508819	chr7:18768026-18768027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56281287	chr7:18768067-18768068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569677257	chr7:18768069-18768070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565456917	chr7:18768078-18768079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531652338	chr7:18768085-18768086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191091374	chr7:18768102-18768103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547416960	chr7:18768109-18768110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565673494	chr7:18768132-18768133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141818888	chr7:18768161-18768162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547960723	chr7:18768178-18768179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146277355	chr7:18768215-18768216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562086723	chr7:18768264-18768265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148444698	chr7:18768275-18768276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117573396	chr7:18768279-18768280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570417748	chr7:18768295-18768296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141735810	chr7:18768322-18768323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1178129	chr7:18768334-18768335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368023532	chr7:18768365-18768366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553790261	chr7:18768389-18768390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181926754	chr7:18768410-18768411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186242598	chr7:18768464-18768465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563484070	chr7:18768473-18768474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs118037722	chr7:18768578-18768579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576450285	chr7:18768584-18768585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543665807	chr7:18768592-18768593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150639896	chr7:18768603-18768604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532901389	chr7:18768604-18768605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566683716	chr7:18768623-18768624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3864420	chr7:18768692-18768693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191044026	chr7:18768731-18768732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529635919	chr7:18768773-18768774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1178130	chr7:18768788-18768789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182827417	chr7:18768848-18768849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530585665	chr7:18768849-18768850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139813906	chr7:18768859-18768860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570305466	chr7:18768863-18768864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527493243	chr7:18768897-18768898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113895674	chr7:18768924-18768925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187468333	chr7:18768946-18768947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569074225	chr7:18768972-18768973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567988666	chr7:18768975-18768976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18699600-18776000	Weak transcription	Aorta	Aorta
2	chr7:18726200-18790200	Weak transcription	Primary B cells from cord blood	blood
3	chr7:18748000-18788600	Weak transcription	Left Ventricle	heart
4	chr7:18765200-18810600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:18766400-18768800	Weak transcription	Fetal Brain Female	brain
6	chr7:18767600-18767800	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr7:18767800-18769600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:18769200-18771600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:18769600-18788600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:18771800-18772200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:18772200-18772600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:18772200-18772600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:18772200-18772600	Active TSS	Fetal Lung	lung
14	chr7:18772200-18772600	ZNF genes & repeats	Pancreas	Pancrea
15	chr7:18775000-18782800	Weak transcription	Psoas Muscle	Psoas
16	chr7:18775400-18776400	Enhancers	Primary B cells from peripheral blood	blood
17	chr7:18786600-18786800	Weak transcription	Psoas Muscle	Psoas
18	chr7:18787400-18801800	Weak transcription	Psoas Muscle	Psoas
19	chr7:18787800-18792400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:18787800-18810800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:18788000-18788600	Weak transcription	Aorta	Aorta
22	chr7:18788200-18790800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr7:18788600-18789000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:18788600-18789000	ZNF genes & repeats	Aorta	Aorta
25	chr7:18788600-18789000	ZNF genes & repeats	Left Ventricle	heart
26	chr7:18788600-18789000	ZNF genes & repeats	HSMM	muscle
27	chr7:18788800-18801800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr7:18789000-18790400	Weak transcription	HSMM	muscle
29	chr7:18789000-18794000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:18789000-18807800	Weak transcription	Aorta	Aorta
31	chr7:18789000-18808600	Weak transcription	Left Ventricle	heart
32	chr7:18789600-18792400	Weak transcription	HSMMtube	muscle
33	chr7:18790200-18790600	Strong transcription	Primary B cells from cord blood	blood
34	chr7:18790400-18790600	ZNF genes & repeats	HSMM	muscle
35	chr7:18790600-18792800	Weak transcription	HSMM	muscle
36	chr7:18790600-18835000	Weak transcription	Primary B cells from cord blood	blood
37	chr7:18792400-18793400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:18792400-18794200	Enhancers	HSMMtube	muscle
39	chr7:18792600-18793400	Enhancers	Osteobl	bone
40	chr7:18792800-18793600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:18792800-18793600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:18792800-18793800	Enhancers	NH-A	brain
43	chr7:18792800-18794200	Enhancers	HSMM	muscle
44	chr7:18793200-18793400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:18793200-18793400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:18793200-18793600	Enhancers	NHDF-Ad	bronchial
47	chr7:18793200-18794200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:18793400-18794000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:18793400-18794000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr7:18793400-18794000	Flanking Active TSS	Osteobl	bone

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