Variant report

Variant	nsv907018
Chromosome Location	chr16:82306551-82345583
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:82325315..82327311-chr16:82329809..82331549,2	K562	blood:
2	chr16:82342573..82345161-chr16:82362361..82364384,2	MCF-7	breast:
3	chr16:82305562..82308291-chr16:82312214..82314112,2	K562	blood:
4	chr16:82305728..82307988-chr16:82311473..82314764,3	MCF-7	breast:
5	chr16:82325315..82328558-chr16:82329366..82332444,4	K562	blood:
6	chr16:82305728..82307988-chr16:82311473..82314764,3	MCF-7	breast:
7	chr16:82326593..82328335-chr16:82378297..82380462,2	MCF-7	breast:
8	chr16:82305562..82308291-chr16:82312214..82314112,2	K562	blood:
9	chr16:82314631..82316519-chr16:82318553..82321502,2	K562	blood:
10	chr16:82325315..82328558-chr16:82329366..82332444,4	K562	blood:
11	chr16:82325315..82327311-chr16:82329809..82331549,2	K562	blood:
12	chr16:82314631..82316519-chr16:82318553..82321502,2	K562	blood:
13	chr16:82304234..82306483-chr16:82306506..82308136,2	MCF-7	breast:
14	chr16:82315069..82317985-chr6:42750916..42752548,2	MCF-7	breast:

No data

Extended variants
information (count: 1392 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1392 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549783838	chr16:82307404-82307405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35300300	chr16:82307406-82307407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147764356	chr16:82307440-82307441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565008691	chr16:82307448-82307449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532101192	chr16:82307485-82307486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13332629	chr16:82307536-82307537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34464482	chr16:82307542-82307543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191681624	chr16:82307565-82307566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184188443	chr16:82307592-82307593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187386667	chr16:82307616-82307617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528617272	chr16:82307621-82307622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374690296	chr16:82307629-82307630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537876953	chr16:82307639-82307640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114989002	chr16:82307653-82307654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192886751	chr16:82307655-82307656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535342958	chr16:82307691-82307692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141156312	chr16:82307692-82307693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548353181	chr16:82307693-82307694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78722698	chr16:82307694-82307695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185479746	chr16:82307724-82307725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542816852	chr16:82307744-82307745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561197468	chr16:82307751-82307752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145645434	chr16:82307762-82307763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543486798	chr16:82307764-82307765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536837209	chr16:82307768-82307769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564726377	chr16:82307784-82307785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190305636	chr16:82307790-82307791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182542745	chr16:82307819-82307820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145429262	chr16:82307832-82307833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527899328	chr16:82307843-82307844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549142652	chr16:82307865-82307866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149190629	chr16:82307899-82307900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531874658	chr16:82307900-82307901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553573397	chr16:82307918-82307919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1826242	chr16:82307919-82307920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183514585	chr16:82307925-82307926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575098896	chr16:82307944-82307945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188251317	chr16:82307991-82307992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116000188	chr16:82307998-82307999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536486742	chr16:82308021-82308022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181046589	chr16:82308023-82308024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112050562	chr16:82308044-82308045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558773654	chr16:82308085-82308086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143317061	chr16:82308125-82308126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151302378	chr16:82308144-82308145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559210290	chr16:82308150-82308151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537048042	chr16:82308156-82308157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565418266	chr16:82308164-82308165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575591397	chr16:82308206-82308207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542854125	chr16:82308207-82308208	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82307400-82307600	Enhancers	Left Ventricle	heart
2	chr16:82307600-82308600	Weak transcription	Left Ventricle	heart
3	chr16:82308400-82308800	Enhancers	Right Ventricle	heart
4	chr16:82308600-82309200	Enhancers	Left Ventricle	heart
5	chr16:82309200-82309400	Weak transcription	Left Ventricle	heart
6	chr16:82313800-82314200	Weak transcription	Left Ventricle	heart
7	chr16:82313800-82315200	Enhancers	HSMMtube	muscle
8	chr16:82314000-82314400	Active TSS	Fetal Heart	heart
9	chr16:82314200-82314400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr16:82314200-82314800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr16:82314200-82315600	Enhancers	Colon Smooth Muscle	Colon
12	chr16:82314400-82314800	Enhancers	Aorta	Aorta
13	chr16:82314400-82314800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr16:82314400-82315200	Enhancers	Right Atrium	heart
15	chr16:82314400-82315400	Flanking Active TSS	Fetal Heart	heart
16	chr16:82314400-82315600	Enhancers	Left Ventricle	heart
17	chr16:82314600-82315200	Enhancers	Psoas Muscle	Psoas
18	chr16:82314800-82315200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr16:82314800-82315200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr16:82314800-82316800	Weak transcription	Aorta	Aorta
21	chr16:82315200-82315600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr16:82315200-82315800	Active TSS	HSMMtube	muscle
23	chr16:82315200-82317000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr16:82315400-82317400	Enhancers	Fetal Heart	heart
25	chr16:82315600-82316800	Weak transcription	Left Ventricle	heart
26	chr16:82315600-82317000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr16:82316600-82316800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr16:82316800-82317600	Enhancers	Left Ventricle	heart
29	chr16:82316800-82317800	Enhancers	Aorta	Aorta
30	chr16:82317400-82317600	Enhancers	Right Atrium	heart
31	chr16:82317400-82318000	Enhancers	Pancreas	Pancrea
32	chr16:82317600-82318800	Weak transcription	Left Ventricle	heart
33	chr16:82317800-82318200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr16:82318000-82318600	Weak transcription	Pancreas	Pancrea
35	chr16:82318600-82318800	Enhancers	Pancreas	Pancrea
36	chr16:82318800-82319000	Enhancers	Left Ventricle	heart
37	chr16:82319000-82319400	Enhancers	Brain Hippocampus Middle	brain
38	chr16:82319200-82320200	Enhancers	Brain Cingulate Gyrus	brain
39	chr16:82319400-82319800	Weak transcription	Brain Hippocampus Middle	brain
40	chr16:82319600-82320200	Enhancers	Brain Substantia Nigra	brain
41	chr16:82319800-82320000	Enhancers	Brain Hippocampus Middle	brain
42	chr16:82320000-82321200	Weak transcription	Brain Hippocampus Middle	brain
43	chr16:82321200-82322400	Enhancers	Brain Hippocampus Middle	brain
44	chr16:82323400-82324000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:82328400-82329000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr16:82328600-82328800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:82328600-82329000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr16:82328600-82329200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr16:82328600-82329400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:82328600-82329400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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