Variant report

Variant	esv2643023
Chromosome Location	chr16:72752833-72754522
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	chr16:72750286..72753013-chr16:72758425..72760232,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9933493	chr16:72752859-72752860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116427558	chr16:72752873-72752874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377320653	chr16:72752874-72752875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576093447	chr16:72752882-72752883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183812769	chr16:72752905-72752906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536753349	chr16:72752913-72752914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554770163	chr16:72752924-72752925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139645407	chr16:72752932-72752933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113153646	chr16:72752983-72752984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12921751	chr16:72753028-72753029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572973242	chr16:72753041-72753042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370283710	chr16:72753073-72753074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76768639	chr16:72753075-72753076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186705181	chr16:72753085-72753086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543803352	chr16:72753243-72753244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552006295	chr16:72753298-72753299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7195014	chr16:72753299-72753300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368874863	chr16:72753303-72753304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375414683	chr16:72753395-72753396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113894268	chr16:72753593-72753594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111566580	chr16:72753594-72753595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112265932	chr16:72753595-72753596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562147931	chr16:72753666-72753667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545015001	chr16:72753689-72753690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529703904	chr16:72753722-72753723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541543713	chr16:72753740-72753741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192453261	chr16:72753774-72753775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377535535	chr16:72753789-72753790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547210889	chr16:72753820-72753821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571842168	chr16:72753828-72753829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543990688	chr16:72753832-72753833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550953888	chr16:72753851-72753852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572071465	chr16:72753911-72753912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536714687	chr16:72753920-72753921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548370041	chr16:72753938-72753939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184362982	chr16:72753967-72753968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370897679	chr16:72753969-72753970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375080991	chr16:72753994-72753995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13332581	chr16:72754019-72754020	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558763769	chr16:72754029-72754030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145304074	chr16:72754107-72754108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190566766	chr16:72754127-72754128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193242131	chr16:72754147-72754148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368718300	chr16:72754157-72754158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555709160	chr16:72754176-72754177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184560839	chr16:72754189-72754190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147633700	chr16:72754190-72754191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559980910	chr16:72754228-72754229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188875236	chr16:72754317-72754318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541702718	chr16:72754337-72754338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72746400-72760800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr16:72746600-72755400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr16:72747800-72757600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:72749400-72756200	Weak transcription	Ovary	ovary
5	chr16:72750000-72755400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr16:72750000-72755800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:72750400-72755600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:72750600-72757200	Weak transcription	Dnd41	blood
9	chr16:72750600-72763200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:72750800-72753400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:72751800-72755600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:72754000-72754200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr16:72754000-72754200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr16:72754000-72754200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr16:72754000-72754200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr16:72754000-72754200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:72754200-72755400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr16:72754200-72755400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:72754200-72759000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:72754400-72755400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:72754400-72755400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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