Variant report

Variant	nsv1058312
Chromosome Location	chr16:77003426-77021734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 662 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570890465	chr16:77003440-77003441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138334158	chr16:77003445-77003446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558826181	chr16:77003469-77003470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572103130	chr16:77003485-77003486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190663236	chr16:77003506-77003507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113244182	chr16:77003543-77003544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572051357	chr16:77003558-77003559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181550281	chr16:77003582-77003583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557827416	chr16:77003624-77003625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186386497	chr16:77003629-77003630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77639367	chr16:77003638-77003639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573787729	chr16:77003645-77003646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191920766	chr16:77003672-77003673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17617959	chr16:77003673-77003674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs542485575	chr16:77003697-77003698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559250919	chr16:77003699-77003700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372750371	chr16:77003711-77003712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527662469	chr16:77003764-77003765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377180944	chr16:77003825-77003826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182924395	chr16:77003833-77003834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187519579	chr16:77003882-77003883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117942326	chr16:77003917-77003918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373870475	chr16:77003977-77003978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557645835	chr16:77003987-77003988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570235103	chr16:77004010-77004011	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs562521986	chr16:77004041-77004042	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143015642	chr16:77004043-77004044	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545346141	chr16:77004067-77004068	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79290115	chr16:77004092-77004093	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566418081	chr16:77004096-77004097	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534610368	chr16:77004097-77004098	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565583992	chr16:77004179-77004180	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557419353	chr16:77004184-77004185	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs115848853	chr16:77004187-77004188	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs576681756	chr16:77004192-77004193	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs1502446	chr16:77004217-77004218	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191423100	chr16:77004223-77004224	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs142978128	chr16:77004226-77004227	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs146130588	chr16:77004262-77004263	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368240778	chr16:77004295-77004296	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs559211742	chr16:77004302-77004303	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140112843	chr16:77004305-77004306	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs74349554	chr16:77004328-77004329	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564290255	chr16:77004340-77004341	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375015410	chr16:77004394-77004395	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs533384920	chr16:77004397-77004398	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs550277445	chr16:77004401-77004402	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563809739	chr16:77004405-77004406	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182799431	chr16:77004451-77004452	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs549647763	chr16:77004463-77004464	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77003400-77004000	Enhancers	A549	lung
2	chr16:77003800-77004800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:77003800-77006800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:77004000-77004600	Flanking Active TSS	A549	lung
5	chr16:77004600-77004800	Enhancers	A549	lung
6	chr16:77006200-77006600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:77006800-77011600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr16:77009400-77011200	Enhancers	Primary T cells from cord blood	blood
9	chr16:77009600-77010600	Enhancers	Dnd41	blood
10	chr16:77009600-77010800	Enhancers	Fetal Thymus	thymus
11	chr16:77009800-77010400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr16:77010800-77011800	Weak transcription	Fetal Thymus	thymus
13	chr16:77011600-77012400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr16:77011800-77012000	Enhancers	Fetal Thymus	thymus
15	chr16:77013200-77014200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr16:77018200-77018400	Enhancers	Fetal Brain Male	brain
17	chr16:77018400-77018800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr16:77018400-77019400	Weak transcription	Fetal Brain Male	brain
19	chr16:77019200-77019800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:77019400-77020400	Enhancers	Fetal Brain Male	brain
21	chr16:77019600-77020000	Enhancers	Fetal Brain Female	brain
22	chr16:77019600-77020400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:77020000-77022600	Weak transcription	Fetal Brain Female	brain

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