Variant report

Variant	nsv970401
Chromosome Location	chr7:16580662-16583821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16572386..16575354-chr7:16579474..16582374,2	K562	blood:
2	chr17:61904198..61906383-chr7:16582501..16585104,2	MCF-7	breast:
3	chr7:16532204..16534776-chr7:16581975..16583734,2	K562	blood:
4	chr7:16576435..16578704-chr7:16580633..16582179,2	K562	blood:

Variant related genes	Relation type
ENSG00000087191	chromatin interactions
ENSG00000108592	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541266707	chr7:16581002-16581003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553490591	chr7:16581064-16581065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572093290	chr7:16581090-16581091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182450919	chr7:16581171-16581172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560585156	chr7:16581199-16581200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531223588	chr7:16581216-16581217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571007122	chr7:16581237-16581238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542988992	chr7:16581267-16581268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560430814	chr7:16581279-16581280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559302666	chr7:16581307-16581308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532397833	chr7:16581337-16581338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141336213	chr7:16581362-16581363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565861516	chr7:16581406-16581407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530243880	chr7:16581415-16581416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375946675	chr7:16581421-16581422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570128124	chr7:16581430-16581431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188317458	chr7:16581431-16581432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528325136	chr7:16581432-16581433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192568368	chr7:16581447-16581448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111325476	chr7:16581460-16581461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373291457	chr7:16581463-16581464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571066786	chr7:16581525-16581526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571565950	chr7:16581547-16581548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566840309	chr7:16581558-16581559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111489811	chr7:16581569-16581570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375283422	chr7:16581570-16581571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535316882	chr7:16581609-16581610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185304639	chr7:16581612-16581613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146972753	chr7:16581621-16581622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187538289	chr7:16581695-16581696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554268055	chr7:16581705-16581706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529518866	chr7:16581724-16581725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575687635	chr7:16581733-16581734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370053185	chr7:16581792-16581793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373323084	chr7:16581845-16581846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117124777	chr7:16581853-16581854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6945188	chr7:16581890-16581891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs73297273	chr7:16581906-16581907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192068120	chr7:16581925-16581926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370045437	chr7:16581950-16581951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529927038	chr7:16581967-16581968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543421752	chr7:16582015-16582016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184823181	chr7:16582029-16582030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377452648	chr7:16582063-16582064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570166100	chr7:16582074-16582075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138231701	chr7:16582075-16582076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189240884	chr7:16582080-16582081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570803904	chr7:16582109-16582110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180993798	chr7:16582138-16582139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78062212	chr7:16582169-16582170	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
Melanoma	17363583	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16581000-16584400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:16582000-16582200	Enhancers	Fetal Intestine Large	intestine
3	chr7:16582200-16583200	Weak transcription	Fetal Intestine Large	intestine
4	chr7:16582200-16583800	Enhancers	Stomach Mucosa	stomach
5	chr7:16583200-16583600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:16583200-16583600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:16583200-16584000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:16583200-16584000	Enhancers	Fetal Intestine Large	intestine

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