Variant report

Variant	nsv974740
Chromosome Location	chr16:72298449-72301227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72291515..72293127-chr16:72296218..72298522,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571216258	chr16:72298449-72298450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532314934	chr16:72298487-72298488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9938820	chr16:72298502-72298503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146589576	chr16:72298504-72298505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35623516	chr16:72298577-72298578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376453650	chr16:72298596-72298597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536475629	chr16:72298629-72298630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529500598	chr16:72298630-72298631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141043140	chr16:72298637-72298638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149813040	chr16:72298643-72298644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534788146	chr16:72298647-72298648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17669164	chr16:72298759-72298760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577573016	chr16:72298815-72298816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190871879	chr16:72298818-72298819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145819225	chr16:72298842-72298843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575834794	chr16:72298864-72298865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367569104	chr16:72298883-72298884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182974850	chr16:72298946-72298947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149015318	chr16:72299044-72299045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373132610	chr16:72299057-72299058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531847485	chr16:72299073-72299074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572979934	chr16:72299090-72299091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79349063	chr16:72299115-72299116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564891329	chr16:72299123-72299124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532104971	chr16:72299158-72299159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201513645	chr16:72299161-72299162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370850683	chr16:72299166-72299167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560796439	chr16:72299188-72299189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11648831	chr16:72299265-72299266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539716662	chr16:72299271-72299272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372151758	chr16:72299278-72299279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529935798	chr16:72299322-72299323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553019534	chr16:72299329-72299330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566641570	chr16:72299415-72299416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566282514	chr16:72299432-72299433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187306612	chr16:72299494-72299495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191234912	chr16:72299525-72299526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376499356	chr16:72299575-72299576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147107861	chr16:72299623-72299624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539048804	chr16:72299631-72299632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557071746	chr16:72299632-72299633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575942548	chr16:72299639-72299640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183087002	chr16:72299643-72299644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555212318	chr16:72299644-72299645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563708577	chr16:72299662-72299663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78761555	chr16:72299677-72299678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13329955	chr16:72299678-72299679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573441994	chr16:72299702-72299703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540351417	chr16:72299717-72299718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187636053	chr16:72299736-72299737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72290400-72316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:72291400-72303200	Weak transcription	HepG2	liver
3	chr16:72296400-72298600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:72296600-72317400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:72297000-72305600	Weak transcription	Brain Anterior Caudate	brain
6	chr16:72297800-72318000	Weak transcription	Thymus	Thymus
7	chr16:72298000-72298600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:72298200-72303600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:72298400-72301000	Weak transcription	Fetal Intestine Small	intestine
10	chr16:72298400-72303200	Weak transcription	Fetal Intestine Large	intestine
11	chr16:72300200-72304200	Weak transcription	HSMMtube	muscle
12	chr16:72300800-72301000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr16:72301000-72301400	Enhancers	Fetal Intestine Small	intestine
14	chr16:72301200-72305000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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