Variant report

Variant	nsv887818
Chromosome Location	chr7:19193072-19240384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 863 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:863 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548772824	chr7:19201231-19201232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188648402	chr7:19201261-19201262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144458503	chr7:19201263-19201264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191807769	chr7:19201273-19201274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570493479	chr7:19201274-19201275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534915298	chr7:19201287-19201288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184100236	chr7:19201297-19201298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372122705	chr7:19201299-19201300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189532510	chr7:19201301-19201302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181967198	chr7:19201306-19201307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572003789	chr7:19201353-19201354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112989551	chr7:19201373-19201374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187298403	chr7:19201389-19201390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76592148	chr7:19201398-19201399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564914232	chr7:19201407-19201408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532417339	chr7:19201446-19201447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577104978	chr7:19201461-19201462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs118151001	chr7:19201482-19201483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372675622	chr7:19201510-19201511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141770945	chr7:19201514-19201515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146030606	chr7:19201523-19201524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376848138	chr7:19201527-19201528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74727110	chr7:19201531-19201532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12700021	chr7:19201545-19201546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552350184	chr7:19201546-19201547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10486334	chr7:19201602-19201603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139896450	chr7:19201618-19201619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189431695	chr7:19201626-19201627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181545084	chr7:19201640-19201641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535754960	chr7:19201645-19201646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6946874	chr7:19201648-19201649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562160852	chr7:19201652-19201653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6947014	chr7:19201653-19201654	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185909472	chr7:19201668-19201669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539750742	chr7:19201676-19201677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189926137	chr7:19201684-19201685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182608600	chr7:19201699-19201700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534458232	chr7:19201710-19201711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547800025	chr7:19201717-19201718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375873670	chr7:19201720-19201721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559714367	chr7:19201729-19201730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143418910	chr7:19201735-19201736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560469873	chr7:19201800-19201801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75247383	chr7:19201824-19201825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11459281	chr7:19201853-19201854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201815147	chr7:19201855-19201856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs398003877	chr7:19201859-19201860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185817310	chr7:19201875-19201876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552350482	chr7:19201914-19201915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531173998	chr7:19201935-19201936	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
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19201200-19201600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:19201200-19201800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:19201400-19202000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:19210800-19211000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:19214200-19214600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:19214400-19215200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:19214400-19215200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:19214400-19215400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:19214600-19215000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:19214600-19215600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:19215000-19215200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:19215000-19215400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:19215000-19215600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:19216400-19217600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:19216600-19216800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:19216600-19217200	Enhancers	Osteobl	bone
17	chr7:19216600-19218000	Enhancers	HSMM	muscle
18	chr7:19216600-19218400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:19216600-19218400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:19216800-19217200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:19216800-19217200	Bivalent Enhancer	HMEC	breast
22	chr7:19216800-19217200	Enhancers	HSMMtube	muscle
23	chr7:19216800-19217400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:19217000-19217200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:19217000-19217400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:19217000-19217400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:19217000-19217400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:19217200-19218000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:19217200-19221400	Weak transcription	Osteobl	bone
30	chr7:19217400-19220800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:19220200-19221600	Weak transcription	HSMM	muscle
32	chr7:19220800-19222000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:19221400-19222000	Enhancers	Osteobl	bone
34	chr7:19221600-19222000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:19221600-19222000	Enhancers	HSMM	muscle
36	chr7:19234200-19234400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:19234200-19234400	Active TSS	H1 Cell Line	embryonic stem cell
38	chr7:19234200-19234400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:19234200-19234400	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr7:19234200-19234400	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:19234200-19234400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr7:19234200-19234400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:19234200-19234600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:19234200-19234600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:19234200-19234600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:19234200-19234600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr7:19234200-19234600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:19234200-19234600	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr7:19234200-19234600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:19234200-19234600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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