Variant report

Variant	nsv1024621
Chromosome Location	chr7:16009368-16030199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 804 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:804 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11772234	chr7:16009368-16009369	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs145861170	chr7:16009378-16009379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192315697	chr7:16009469-16009470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577356309	chr7:16009503-16009504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538230540	chr7:16009507-16009508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182465782	chr7:16009543-16009544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138536749	chr7:16009557-16009558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542922261	chr7:16009578-16009579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13228856	chr7:16009588-16009589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374896925	chr7:16009593-16009594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554970032	chr7:16009643-16009644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140119555	chr7:16009694-16009695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543688763	chr7:16009705-16009706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113957201	chr7:16009739-16009740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78797592	chr7:16009818-16009819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75988312	chr7:16009857-16009858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117352680	chr7:16009886-16009887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530297483	chr7:16009903-16009904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548875408	chr7:16009953-16009954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150295178	chr7:16009964-16009965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577483168	chr7:16009971-16009972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367601605	chr7:16009982-16009983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537236530	chr7:16010018-16010019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115192179	chr7:16010036-16010037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533645571	chr7:16010054-16010055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543743340	chr7:16010113-16010114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553453567	chr7:16010116-16010117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77702884	chr7:16010157-16010158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201791485	chr7:16010171-16010172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs118191177	chr7:16010174-16010175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12155069	chr7:16010208-16010209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138007522	chr7:16010239-16010240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576444975	chr7:16010248-16010249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548970832	chr7:16010267-16010268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566125585	chr7:16010271-16010272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10262767	chr7:16010280-16010281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565105633	chr7:16010286-16010287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547540272	chr7:16010287-16010288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541018986	chr7:16010289-16010290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570582988	chr7:16010293-16010294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539728034	chr7:16010373-16010374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556538570	chr7:16010431-16010432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187935688	chr7:16010446-16010447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191122881	chr7:16010459-16010460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559450067	chr7:16010480-16010481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149472373	chr7:16010504-16010505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182781763	chr7:16010521-16010522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563621980	chr7:16010533-16010534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531135765	chr7:16010537-16010538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372583143	chr7:16010557-16010558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Colorectal cancer	16272173	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	19492091	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15992400-16010800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:16003400-16012400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:16007400-16012600	Weak transcription	Fetal Lung	lung
4	chr7:16007600-16011000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:16007800-16012400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:16011600-16012200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:16011800-16013600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:16012000-16014400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr7:16012200-16012600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:16012200-16013000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:16012200-16013200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:16012200-16013400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:16012200-16013800	Enhancers	HUVEC	blood vessel
14	chr7:16012400-16012800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:16012400-16012800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:16012400-16013000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:16012400-16013000	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:16012400-16013000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:16012400-16013200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr7:16012400-16013400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:16012600-16012800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:16012600-16013000	Enhancers	Fetal Muscle Leg	muscle
23	chr7:16012600-16013000	Enhancers	Ovary	ovary
24	chr7:16012600-16013200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:16012600-16013200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:16012600-16013200	Enhancers	Fetal Lung	lung
27	chr7:16012800-16013000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:16012800-16013000	Enhancers	Left Ventricle	heart
29	chr7:16012800-16013000	Enhancers	Right Atrium	heart
30	chr7:16012800-16013200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr7:16012800-16013200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:16012800-16013200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:16012800-16013200	Enhancers	Spleen	Spleen
34	chr7:16012800-16013200	Enhancers	NHDF-Ad	bronchial
35	chr7:16012800-16013200	Enhancers	Osteobl	bone
36	chr7:16012800-16013600	Enhancers	Adipose Nuclei	Adipose
37	chr7:16013200-16013400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:16013200-16013600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr7:16013200-16014400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:16013200-16017000	Weak transcription	Osteobl	bone
41	chr7:16013200-16017400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:16013200-16017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:16013200-16017400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:16013200-16017400	Weak transcription	NHDF-Ad	bronchial
45	chr7:16013400-16016800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:16013400-16017200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:16013600-16015000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:16013800-16017000	Weak transcription	HUVEC	blood vessel
49	chr7:16014400-16015600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:16015000-16015200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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