Variant report

Variant	nsv527041
Chromosome Location	chr16:82401055-82402782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82400970..82402265-chr16:82489997..82490801,4	MCF-7	breast:
2	chr16:82401273..82402735-chr16:82489954..82490649,3	MCF-7	breast:
3	chr16:82401433..82402195-chr16:82472965..82473907,2	MCF-7	breast:
4	chr16:82362985..82363554-chr16:82401341..82402193,2	MCF-7	breast:
5	chr16:82401188..82401863-chr16:82612795..82614499,6	MCF-7	breast:
6	chr16:82401325..82403484-chr16:82424417..82426290,2	K562	blood:
7	chr16:82401256..82401986-chr16:83102060..83102714,2	MCF-7	breast:

Extended variants
information (count: 132 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9937851	chr16:82401055-82401056	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374129344	chr16:82401116-82401117	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116845154	chr16:82401123-82401124	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576911063	chr16:82401124-82401125	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188113423	chr16:82401134-82401135	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552941373	chr16:82401143-82401144	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144928645	chr16:82401170-82401171	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541713364	chr16:82401192-82401193	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190245432	chr16:82401198-82401199	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182925424	chr16:82401201-82401202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149064802	chr16:82401217-82401218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112742206	chr16:82401218-82401219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143014181	chr16:82401226-82401227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528188942	chr16:82401231-82401232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546755923	chr16:82401255-82401256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75841722	chr16:82401259-82401260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368045888	chr16:82401266-82401267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548571291	chr16:82401276-82401277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187554740	chr16:82401280-82401281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75806812	chr16:82401293-82401294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192288505	chr16:82401296-82401297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116709872	chr16:82401299-82401300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146675423	chr16:82401302-82401303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553053978	chr16:82401339-82401340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140710465	chr16:82401347-82401348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145918957	chr16:82401376-82401377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112701162	chr16:82401379-82401380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575475632	chr16:82401404-82401405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545951370	chr16:82401475-82401476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545823149	chr16:82401478-82401479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561705288	chr16:82401479-82401480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557971673	chr16:82401507-82401508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185593476	chr16:82401510-82401511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34667460	chr16:82401513-82401514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4082513	chr16:82401514-82401515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9940174	chr16:82401515-82401516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561786874	chr16:82401521-82401522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55876500	chr16:82401522-82401523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544179331	chr16:82401525-82401526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138778407	chr16:82401536-82401537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149385072	chr16:82401569-82401570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552605000	chr16:82401593-82401594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566259668	chr16:82401602-82401603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144670254	chr16:82401608-82401609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576953271	chr16:82401651-82401652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12934031	chr16:82401677-82401678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376355036	chr16:82401678-82401679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528684410	chr16:82401682-82401683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372354548	chr16:82401683-82401684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546656207	chr16:82401684-82401685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82393200-82401800	Weak transcription	Gastric	stomach
2	chr16:82401000-82401200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:82401000-82402800	Weak transcription	Aorta	Aorta
4	chr16:82401800-82402000	Enhancers	Gastric	stomach
5	chr16:82401800-82402200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr16:82401800-82402400	Enhancers	Brain Hippocampus Middle	brain
7	chr16:82401800-82402400	Enhancers	Fetal Muscle Trunk	muscle
8	chr16:82401800-82402400	Enhancers	Fetal Stomach	stomach
9	chr16:82402000-82402400	Enhancers	Brain Cingulate Gyrus	brain
10	chr16:82402000-82402600	Weak transcription	Gastric	stomach
11	chr16:82402400-82402800	Weak transcription	Fetal Stomach	stomach

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