Variant report

Variant	nsv517176
Chromosome Location	chr7:19464027-19468258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2192473	chr7:19464027-19464028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572898651	chr7:19464032-19464033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539951600	chr7:19464042-19464043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77205454	chr7:19464048-19464049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573543926	chr7:19464076-19464077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6966182	chr7:19464080-19464081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs562466472	chr7:19464088-19464089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533024810	chr7:19464090-19464091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544814823	chr7:19464165-19464166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187979310	chr7:19464243-19464244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143947818	chr7:19464256-19464257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192603092	chr7:19464309-19464310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6948616	chr7:19464344-19464345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550959910	chr7:19464379-19464380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569579449	chr7:19464439-19464440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551686604	chr7:19464441-19464442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146360868	chr7:19464470-19464471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558434974	chr7:19464481-19464482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566941029	chr7:19464482-19464483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75453586	chr7:19464522-19464523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371636131	chr7:19464596-19464597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370967870	chr7:19464606-19464607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540740801	chr7:19464635-19464636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200089661	chr7:19464674-19464675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184499396	chr7:19464723-19464724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543823788	chr7:19464752-19464753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555701291	chr7:19464793-19464794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150036356	chr7:19464807-19464808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544900325	chr7:19464817-19464818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190423137	chr7:19464836-19464837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192541899	chr7:19464845-19464846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184925134	chr7:19464870-19464871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562717315	chr7:19464876-19464877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562056107	chr7:19464900-19464901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374034413	chr7:19464948-19464949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77589343	chr7:19464993-19464994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541957112	chr7:19465046-19465047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73260262	chr7:19465118-19465119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533706865	chr7:19465136-19465137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562204612	chr7:19465145-19465146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145497323	chr7:19465156-19465157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567078845	chr7:19465163-19465164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534154689	chr7:19465227-19465228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549523586	chr7:19465238-19465239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148854470	chr7:19465309-19465310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537502905	chr7:19465320-19465321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555788950	chr7:19465330-19465331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548088937	chr7:19465362-19465363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567934307	chr7:19465393-19465394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373430062	chr7:19465411-19465412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19462200-19467200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:19462200-19467400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:19462200-19467400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:19462200-19467400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:19462400-19467200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:19462800-19464400	Enhancers	Adipose Nuclei	Adipose
7	chr7:19463400-19465200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:19463400-19465400	Enhancers	Fetal Stomach	stomach
9	chr7:19463800-19465400	Enhancers	Fetal Heart	heart
10	chr7:19464000-19464400	Enhancers	Fetal Lung	lung
11	chr7:19467000-19468000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr7:19467200-19468000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:19467200-19468000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:19467200-19468200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:19467400-19467800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:19467400-19468000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:19467400-19468000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:19467400-19468000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:19467400-19468000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:19467400-19468200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:19467600-19468000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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