Variant report

Variant	nsv606325
Chromosome Location	chr7:16381366-16401190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
2	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
3	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:
4	chr7:16397851..16402172-chr7:16402336..16405323,3	K562	blood:
5	chr7:16371339..16372978-chr7:16382400..16384507,2	K562	blood:
6	chr7:16394955..16400745-chr7:16401367..16408404,9	K562	blood:
7	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:

Extended variants
information (count: 808 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:808 , 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	rs2526604	chr7:16381366-16381367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183495076	chr7:16381439-16381440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560679348	chr7:16381475-16381476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2526603	chr7:16381476-16381477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139593201	chr7:16381488-16381489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564501775	chr7:16381512-16381513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532310767	chr7:16381543-16381544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188440149	chr7:16381564-16381565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559368501	chr7:16381576-16381577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529924573	chr7:16381621-16381622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548374982	chr7:16381649-16381650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2704678	chr7:16381699-16381700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192386487	chr7:16381715-16381716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370738254	chr7:16381727-16381728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114588234	chr7:16381734-16381735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552607484	chr7:16381748-16381749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570904189	chr7:16381765-16381766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548513647	chr7:16381783-16381784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534699930	chr7:16381797-16381798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568244708	chr7:16381803-16381804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553663796	chr7:16381916-16381917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183391747	chr7:16381940-16381941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536070431	chr7:16381980-16381981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557099536	chr7:16382051-16382052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186610209	chr7:16382061-16382062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543068989	chr7:16382131-16382132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144420389	chr7:16382192-16382193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547383979	chr7:16382229-16382230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576803481	chr7:16382242-16382243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570585506	chr7:16382259-16382260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559618662	chr7:16382262-16382263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374071900	chr7:16382280-16382281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529910977	chr7:16382282-16382283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374334362	chr7:16382375-16382376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376355967	chr7:16382376-16382377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371520545	chr7:16382379-16382380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374755293	chr7:16382380-16382381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367673796	chr7:16382381-16382382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368521163	chr7:16382389-16382390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372907234	chr7:16382397-16382398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371513592	chr7:16382399-16382400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374637406	chr7:16382401-16382402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368056200	chr7:16382403-16382404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372271719	chr7:16382405-16382406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199912327	chr7:16382407-16382408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369750965	chr7:16382415-16382416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111474215	chr7:16382418-16382419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77706224	chr7:16382423-16382424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76714018	chr7:16382424-16382425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372774271	chr7:16382437-16382438	Weak transcription	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
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
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16373200-16384400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:16382600-16383000	Enhancers	Primary T cells from cord blood	blood
3	chr7:16383400-16383600	ZNF genes & repeats	K562	blood
4	chr7:16384000-16385000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:16384400-16385000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:16384600-16385000	Enhancers	Stomach Mucosa	stomach
7	chr7:16384800-16385400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr7:16384800-16388000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:16385000-16385200	Weak transcription	HMEC	breast
10	chr7:16385000-16385400	Weak transcription	Stomach Mucosa	stomach
11	chr7:16385000-16385600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:16385000-16387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:16385000-16388400	Enhancers	HSMM	muscle
14	chr7:16385200-16385400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:16385200-16386400	Enhancers	Osteobl	bone
16	chr7:16385200-16387600	Enhancers	HMEC	breast
17	chr7:16385200-16388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:16385400-16385600	Enhancers	Stomach Mucosa	stomach
19	chr7:16385400-16385800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:16385400-16386200	Enhancers	NH-A	brain
21	chr7:16385400-16388200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:16385600-16386400	Weak transcription	Stomach Mucosa	stomach
23	chr7:16385600-16386800	Enhancers	NHLF	lung
24	chr7:16385600-16387400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:16385600-16387600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr7:16385600-16387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:16385600-16387800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:16385600-16387800	Enhancers	HSMMtube	muscle
29	chr7:16385600-16388000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:16385600-16388000	Enhancers	NHDF-Ad	bronchial
31	chr7:16385600-16388200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:16385800-16386200	Enhancers	Fetal Heart	heart
33	chr7:16385800-16386800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr7:16385800-16386800	Enhancers	NHEK	skin
35	chr7:16385800-16387600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr7:16385800-16387800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:16385800-16388800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:16386000-16386400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:16386000-16386400	Enhancers	K562	blood
40	chr7:16386000-16386600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr7:16386000-16386600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:16386000-16387200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:16386000-16387600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:16386200-16386400	Enhancers	Fetal Kidney	kidney
45	chr7:16386200-16386600	Flanking Active TSS	Fetal Heart	heart
46	chr7:16386200-16386600	Enhancers	Ovary	ovary
47	chr7:16386200-16386600	Flanking Active TSS	NH-A	brain
48	chr7:16386200-16387400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr7:16386400-16386600	Enhancers	Gastric	stomach
50	chr7:16386400-16386600	Enhancers	Right Atrium	heart

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