Variant report

Variant	nsv1024865
Chromosome Location	chr7:19203766-19220653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:19198266..19200547-chr7:19202744..19204573,2	K562	blood:
2	chr7:19205244..19207935-chr7:19216536..19218730,2	K562	blood:
3	chr7:19205244..19207935-chr7:19216536..19218730,2	K562	blood:

Extended variants
information (count: 266 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550369705	chr7:19210822-19210823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571217416	chr7:19210851-19210852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538763226	chr7:19210857-19210858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547059457	chr7:19210959-19210960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147466728	chr7:19210981-19210982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536224781	chr7:19210986-19210987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557525837	chr7:19214215-19214216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35160021	chr7:19214221-19214222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569388590	chr7:19214225-19214226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182950720	chr7:19214242-19214243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35545075	chr7:19214245-19214246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557523686	chr7:19214262-19214263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188753236	chr7:19214269-19214270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550728854	chr7:19214293-19214294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567443665	chr7:19214299-19214300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192658766	chr7:19214332-19214333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182881540	chr7:19214361-19214362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187522265	chr7:19214378-19214379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546601017	chr7:19214408-19214409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374360889	chr7:19214410-19214411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562694343	chr7:19214449-19214450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532936743	chr7:19214464-19214465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545209187	chr7:19214500-19214501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191665614	chr7:19214592-19214593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75499971	chr7:19214599-19214600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116078929	chr7:19214602-19214603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140828939	chr7:19214653-19214654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529599508	chr7:19214684-19214685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189957829	chr7:19214735-19214736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538650649	chr7:19214740-19214741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113531355	chr7:19214744-19214745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150148285	chr7:19214768-19214769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571433908	chr7:19214779-19214780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558348232	chr7:19214818-19214819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139125724	chr7:19214842-19214843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533670984	chr7:19214844-19214845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554940299	chr7:19214942-19214943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143075603	chr7:19214955-19214956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528327332	chr7:19215051-19215052	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs192304812	chr7:19215056-19215057	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs78178162	chr7:19215060-19215061	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs544859391	chr7:19215096-19215097	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs560415195	chr7:19215112-19215113	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553546635	chr7:19215156-19215157	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs528592012	chr7:19215218-19215219	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540767470	chr7:19215228-19215229	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562170897	chr7:19215251-19215252	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546754902	chr7:19215262-19215263	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529260416	chr7:19215286-19215287	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566968769	chr7:19215299-19215300	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19210800-19211000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:19214200-19214600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:19214400-19215200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:19214400-19215200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:19214400-19215400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:19214600-19215000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:19214600-19215600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:19215000-19215200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:19215000-19215400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:19215000-19215600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:19216400-19217600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:19216600-19216800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:19216600-19217200	Enhancers	Osteobl	bone
14	chr7:19216600-19218000	Enhancers	HSMM	muscle
15	chr7:19216600-19218400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:19216600-19218400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:19216800-19217200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:19216800-19217200	Bivalent Enhancer	HMEC	breast
19	chr7:19216800-19217200	Enhancers	HSMMtube	muscle
20	chr7:19216800-19217400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:19217000-19217200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:19217000-19217400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:19217000-19217400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:19217000-19217400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:19217200-19218000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:19217200-19221400	Weak transcription	Osteobl	bone
27	chr7:19217400-19220800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:19220200-19221600	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links