Variant report

Variant	esv2756815
Chromosome Location	chr16:76009781-76021509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 627 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17676550	chr16:76009781-76009782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537985913	chr16:76009810-76009811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555116171	chr16:76009816-76009817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193228427	chr16:76009827-76009828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542845521	chr16:76009855-76009856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144822426	chr16:76009867-76009868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553260878	chr16:76009917-76009918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573096304	chr16:76009948-76009949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372637274	chr16:76009976-76009977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545285201	chr16:76009983-76009984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564756252	chr16:76009985-76009986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575161224	chr16:76010036-76010037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138596155	chr16:76010041-76010042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184937896	chr16:76010044-76010045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149365238	chr16:76010051-76010052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144745529	chr16:76010052-76010053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545675007	chr16:76010062-76010063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560309685	chr16:76010072-76010073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535136601	chr16:76010087-76010088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374329085	chr16:76010110-76010111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569413774	chr16:76010111-76010112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538260060	chr16:76010112-76010113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548556775	chr16:76010158-76010159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568575518	chr16:76010166-76010167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534277492	chr16:76010170-76010171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148077359	chr16:76010204-76010205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572972209	chr16:76010238-76010239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575312564	chr16:76010239-76010240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28619186	chr16:76010251-76010252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28393682	chr16:76010252-76010253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538590793	chr16:76010255-76010256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs36109794	chr16:76010259-76010260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575423629	chr16:76010281-76010282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143866288	chr16:76010321-76010322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560509189	chr16:76010359-76010360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368686260	chr16:76010363-76010364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539916907	chr16:76010394-76010395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370666972	chr16:76010401-76010402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557795529	chr16:76010405-76010406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560554784	chr16:76010418-76010419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78358775	chr16:76010430-76010431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188115215	chr16:76010456-76010457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563200033	chr16:76010481-76010482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147604717	chr16:76010483-76010484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368993975	chr16:76010484-76010485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575435971	chr16:76010506-76010507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532954099	chr16:76010553-76010554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548642294	chr16:76010573-76010574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568462627	chr16:76010579-76010580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534317139	chr16:76010582-76010583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76008000-76011200	Weak transcription	Brain Angular Gyrus	brain
2	chr16:76009200-76009800	Enhancers	Brain Anterior Caudate	brain
3	chr16:76009200-76011800	Enhancers	Brain Hippocampus Middle	brain
4	chr16:76009400-76011000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr16:76009600-76009800	Enhancers	Brain Cingulate Gyrus	brain
6	chr16:76009600-76010000	Enhancers	Brain Substantia Nigra	brain
7	chr16:76009800-76010800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:76009800-76017200	Weak transcription	Brain Anterior Caudate	brain
9	chr16:76010000-76011000	Weak transcription	Brain Substantia Nigra	brain
10	chr16:76010400-76011800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:76010800-76012000	Enhancers	Brain Cingulate Gyrus	brain
12	chr16:76011000-76011800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr16:76011000-76012000	Enhancers	Brain Substantia Nigra	brain
14	chr16:76011200-76011800	Enhancers	Brain Angular Gyrus	brain
15	chr16:76011800-76014000	Weak transcription	Brain Angular Gyrus	brain
16	chr16:76012000-76017000	Weak transcription	Brain Substantia Nigra	brain
17	chr16:76014600-76014800	Enhancers	Brain Germinal Matrix	brain
18	chr16:76014800-76015600	Weak transcription	Brain Germinal Matrix	brain
19	chr16:76015200-76019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:76015400-76017400	Weak transcription	Brain Angular Gyrus	brain
21	chr16:76015600-76018800	Enhancers	Brain Germinal Matrix	brain
22	chr16:76016200-76018400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr16:76016600-76016800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr16:76016600-76017600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:76016800-76017400	Enhancers	Fetal Brain Female	brain
26	chr16:76016800-76018200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:76016800-76018200	Enhancers	Brain Hippocampus Middle	brain
28	chr16:76017000-76017400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr16:76017000-76018000	Enhancers	Brain Substantia Nigra	brain
30	chr16:76017200-76017400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr16:76017200-76018000	Enhancers	Brain Anterior Caudate	brain
32	chr16:76017200-76018200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:76017200-76018400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr16:76017200-76018400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr16:76017400-76018000	Enhancers	Brain Angular Gyrus	brain
36	chr16:76017400-76018400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr16:76017400-76018400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr16:76017600-76017800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr16:76017600-76018000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:76017600-76018200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr16:76017800-76018000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr16:76017800-76018200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr16:76017800-76018200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr16:76018000-76018200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr16:76018200-76018400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr16:76019600-76020000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:76020000-76029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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