Variant report

Variant	nsv907017
Chromosome Location	chr16:82296012-82319653
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:82314631..82316519-chr16:82318553..82321502,2	K562	blood:
2	chr16:82305562..82308291-chr16:82312214..82314112,2	K562	blood:
3	chr16:82296968..82297743-chr16:82489893..82490632,4	MCF-7	breast:
4	chr16:82296221..82297158-chr16:82378715..82379288,2	MCF-7	breast:
5	chr16:82296873..82297746-chr16:83480098..83480904,3	K562	blood:
6	chr16:82296965..82297742-chr16:82490169..82490880,2	MCF-7	breast:
7	chr16:82299027..82301102-chr16:82373517..82376101,2	MCF-7	breast:
8	chr16:82297232..82297766-chr16:82673115..82673762,2	K562	blood:
9	chr16:82315069..82317985-chr6:42750916..42752548,2	MCF-7	breast:
10	chr16:82296863..82298244-chr16:82377476..82378533,11	MCF-7	breast:
11	chr16:82304234..82306483-chr16:82306506..82308136,2	MCF-7	breast:
12	chr16:82314631..82316519-chr16:82318553..82321502,2	K562	blood:
13	chr16:82297332..82297930-chr16:82362205..82363171,2	MCF-7	breast:
14	chr16:82295686..82298241-chr16:82377026..82378513,53	MCF-7	breast:
15	chr16:82296862..82297823-chr16:82613624..82614666,8	MCF-7	breast:
16	chr16:82305728..82307988-chr16:82311473..82314764,3	MCF-7	breast:
17	chr16:82305562..82308291-chr16:82312214..82314112,2	K562	blood:
18	chr16:82302093..82302908-chr16:82377522..82378109,2	MCF-7	breast:
19	chr16:82276132..82278631-chr16:82297407..82299640,2	MCF-7	breast:
20	chr16:82297678..82300099-chr16:82362624..82364703,2	MCF-7	breast:
21	chr16:82296959..82297780-chr16:82375911..82376777,3	MCF-7	breast:
22	chr16:82305728..82307988-chr16:82311473..82314764,3	MCF-7	breast:
23	chr16:82304234..82306483-chr16:82306506..82308136,2	MCF-7	breast:

No data

Extended variants
information (count: 586 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6565010	chr16:82296012-82296013	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548233839	chr16:82296034-82296035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150048323	chr16:82296052-82296053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116518851	chr16:82296053-82296054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144282243	chr16:82296075-82296076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191673996	chr16:82296078-82296079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539238400	chr16:82296084-82296085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116065582	chr16:82296085-82296086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184181994	chr16:82296125-82296126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62038299	chr16:82296158-82296159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187378494	chr16:82296225-82296226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576381775	chr16:82296229-82296230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543404924	chr16:82296246-82296247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35288361	chr16:82296260-82296261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148733548	chr16:82296270-82296271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193088750	chr16:82296273-82296274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541247577	chr16:82296320-82296321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541929029	chr16:82296349-82296350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6565011	chr16:82296371-82296372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530048048	chr16:82296375-82296376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185350369	chr16:82296439-82296440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62038300	chr16:82296452-82296453	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530540349	chr16:82296469-82296470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551854555	chr16:82296487-82296488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570549898	chr16:82296505-82296506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553977222	chr16:82296512-82296513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190549403	chr16:82296525-82296526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16956924	chr16:82296526-82296527	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35873696	chr16:82296579-82296580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565925818	chr16:82296623-82296624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74029924	chr16:82296646-82296647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147866829	chr16:82296703-82296704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562581260	chr16:82296748-82296749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182251454	chr16:82296754-82296755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183510290	chr16:82296765-82296766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188242661	chr16:82296774-82296775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577293197	chr16:82296814-82296815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181043255	chr16:82296836-82296837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541520290	chr16:82296852-82296853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185513685	chr16:82296869-82296870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574691304	chr16:82296893-82296894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373502927	chr16:82296907-82296908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75621002	chr16:82296912-82296913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563616849	chr16:82296931-82296932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530689541	chr16:82296968-82296969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545812470	chr16:82296979-82296980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563911362	chr16:82296990-82296991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528212889	chr16:82296991-82296992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141578227	chr16:82297020-82297021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561398496	chr16:82297024-82297025	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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82295400-82298400	Enhancers	Fetal Heart	heart
2	chr16:82295600-82296400	Enhancers	Right Atrium	heart
3	chr16:82295800-82296400	Enhancers	Left Ventricle	heart
4	chr16:82296400-82297600	Weak transcription	Left Ventricle	heart
5	chr16:82296400-82297600	Weak transcription	Right Atrium	heart
6	chr16:82297000-82297600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr16:82297000-82298200	Enhancers	Brain Cingulate Gyrus	brain
8	chr16:82297000-82298200	Enhancers	Brain Hippocampus Middle	brain
9	chr16:82297200-82297400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr16:82297200-82297800	Enhancers	Brain Substantia Nigra	brain
11	chr16:82297200-82298000	Enhancers	HepG2	liver
12	chr16:82297200-82298200	Enhancers	Brain Anterior Caudate	brain
13	chr16:82297400-82297600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:82297400-82297600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr16:82297400-82297600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
16	chr16:82297400-82297800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:82297400-82297800	Enhancers	Brain Angular Gyrus	brain
18	chr16:82297400-82297800	Enhancers	Duodenum Mucosa	Duodenum
19	chr16:82297400-82298000	Enhancers	Liver	Liver
20	chr16:82297400-82298000	Enhancers	Brain Germinal Matrix	brain
21	chr16:82297400-82298000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr16:82297400-82298000	Enhancers	Fetal Intestine Large	intestine
23	chr16:82297400-82298000	Enhancers	Fetal Intestine Small	intestine
24	chr16:82297400-82298000	Bivalent Enhancer	Fetal Stomach	stomach
25	chr16:82297400-82298000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr16:82297400-82298400	Enhancers	Aorta	Aorta
27	chr16:82297400-82298800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr16:82297600-82297800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr16:82297600-82298000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:82297600-82298200	Enhancers	Fetal Brain Male	brain
31	chr16:82297600-82298200	Enhancers	Right Atrium	heart
32	chr16:82297600-82298400	Enhancers	Left Ventricle	heart
33	chr16:82307400-82307600	Enhancers	Left Ventricle	heart
34	chr16:82307600-82308600	Weak transcription	Left Ventricle	heart
35	chr16:82308400-82308800	Enhancers	Right Ventricle	heart
36	chr16:82308600-82309200	Enhancers	Left Ventricle	heart
37	chr16:82309200-82309400	Weak transcription	Left Ventricle	heart
38	chr16:82313800-82314200	Weak transcription	Left Ventricle	heart
39	chr16:82313800-82315200	Enhancers	HSMMtube	muscle
40	chr16:82314000-82314400	Active TSS	Fetal Heart	heart
41	chr16:82314200-82314400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr16:82314200-82314800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr16:82314200-82315600	Enhancers	Colon Smooth Muscle	Colon
44	chr16:82314400-82314800	Enhancers	Aorta	Aorta
45	chr16:82314400-82314800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr16:82314400-82315200	Enhancers	Right Atrium	heart
47	chr16:82314400-82315400	Flanking Active TSS	Fetal Heart	heart
48	chr16:82314400-82315600	Enhancers	Left Ventricle	heart
49	chr16:82314600-82315200	Enhancers	Psoas Muscle	Psoas
50	chr16:82314800-82315200	Enhancers	Skeletal Muscle Male	skeletal muscle

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