Variant report

Variant	nsv1061099
Chromosome Location	chr16:80488917-80503223
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:
2	chr16:78537073..78538321-chr16:80500168..80500870,3	MCF-7	breast:
3	chr16:80476917..80477759-chr16:80499915..80500481,2	MCF-7	breast:
4	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:
5	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
6	chr16:79801259..79803185-chr16:80498981..80501432,2	MCF-7	breast:
7	chr16:78958645..78959367-chr16:80500008..80500879,3	MCF-7	breast:
8	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
9	chr16:80118484..80119338-chr16:80499839..80500773,2	MCF-7	breast:
10	chr16:80477484..80480232-chr16:80487404..80489866,2	K562	blood:
11	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:
12	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
13	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
14	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:
15	chr16:79635755..79636630-chr16:80499976..80500798,3	MCF-7	breast:
16	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:
17	chr16:80496333..80498714-chr16:80516089..80518670,2	K562	blood:
18	chr16:80030961..80031815-chr16:80499963..80500752,4	MCF-7	breast:
19	chr16:80214585..80217507-chr16:80501983..80504669,2	K562	blood:

No data

Extended variants
information (count: 739 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:739 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143554887	chr16:80489005-80489006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374269411	chr16:80489044-80489045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149065871	chr16:80489049-80489050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187068512	chr16:80489068-80489069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139283787	chr16:80489155-80489156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535621715	chr16:80490608-80490609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375770431	chr16:80490635-80490636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557099610	chr16:80490646-80490647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539069487	chr16:80490664-80490665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183178858	chr16:80490722-80490723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573476018	chr16:80490835-80490836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534258518	chr16:80490845-80490846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555620818	chr16:80490852-80490853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4888087	chr16:80490858-80490859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544392364	chr16:80490880-80490881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545633987	chr16:80490919-80490920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200707597	chr16:80490933-80490934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113028442	chr16:80490935-80490936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77016829	chr16:80490946-80490947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141980509	chr16:80490948-80490949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562853042	chr16:80490951-80490952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551402720	chr16:80491000-80491001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578011014	chr16:80491005-80491006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545095029	chr16:80491006-80491007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571551561	chr16:80491087-80491088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560503545	chr16:80491113-80491114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565451665	chr16:80491138-80491139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151205446	chr16:80491141-80491142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572679684	chr16:80491164-80491165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370886804	chr16:80491167-80491168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529140501	chr16:80491181-80491182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550706902	chr16:80491208-80491209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113622840	chr16:80491219-80491220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539488215	chr16:80491229-80491230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375969928	chr16:80491234-80491235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551176198	chr16:80491247-80491248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139156676	chr16:80491248-80491249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71398195	chr16:80491258-80491259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555682591	chr16:80491300-80491301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530103029	chr16:80491304-80491305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9934131	chr16:80491318-80491319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11646386	chr16:80491348-80491349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113580982	chr16:80491384-80491385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1825390	chr16:80491389-80491390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs28435115	chr16:80491417-80491418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192058215	chr16:80491422-80491423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145206022	chr16:80491439-80491440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552606213	chr16:80491449-80491450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184024288	chr16:80491452-80491453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551973835	chr16:80491468-80491469	Enhancers 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
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80489000-80489200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:80490600-80492600	Enhancers	Fetal Intestine Small	intestine
3	chr16:80491000-80492800	Enhancers	Fetal Intestine Large	intestine
4	chr16:80491200-80491400	Enhancers	Right Atrium	heart
5	chr16:80491400-80494000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:80491400-80494000	Weak transcription	Right Atrium	heart
7	chr16:80492400-80502600	Enhancers	Liver	Liver
8	chr16:80492600-80494200	Enhancers	Fetal Muscle Leg	muscle
9	chr16:80492600-80494600	Enhancers	Osteobl	bone
10	chr16:80492600-80495800	Weak transcription	Fetal Intestine Small	intestine
11	chr16:80492800-80493000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr16:80492800-80493200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr16:80492800-80493400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:80492800-80494600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:80492800-80495000	Weak transcription	Fetal Intestine Large	intestine
16	chr16:80493000-80493200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:80493000-80493600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr16:80493000-80493600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr16:80493000-80493600	Enhancers	Fetal Stomach	stomach
20	chr16:80493000-80493800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr16:80493000-80494600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:80493000-80495400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr16:80493200-80494200	Enhancers	Ovary	ovary
24	chr16:80493200-80497600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr16:80494000-80494200	Enhancers	Right Atrium	heart
26	chr16:80494000-80494600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:80494600-80495200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:80494600-80500000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:80494600-80500200	Weak transcription	Osteobl	bone
30	chr16:80494800-80498400	Enhancers	Stomach Mucosa	stomach
31	chr16:80495000-80501200	Enhancers	Fetal Intestine Large	intestine
32	chr16:80495200-80498400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:80495400-80500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr16:80495800-80500800	Enhancers	Fetal Intestine Small	intestine
35	chr16:80496400-80496600	Bivalent Enhancer	HepG2	liver
36	chr16:80496400-80498400	Enhancers	Duodenum Mucosa	Duodenum
37	chr16:80496600-80498400	Enhancers	HepG2	liver
38	chr16:80497200-80498200	Enhancers	Fetal Kidney	kidney
39	chr16:80497600-80497800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:80497600-80497800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr16:80497600-80498000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr16:80497600-80498200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr16:80498000-80499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:80498000-80500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:80498200-80500600	Weak transcription	Fetal Kidney	kidney
46	chr16:80498400-80499000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:80498400-80499800	Weak transcription	HepG2	liver
48	chr16:80498400-80500000	Weak transcription	Stomach Mucosa	stomach
49	chr16:80498400-80500200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr16:80498600-80499200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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