Variant report

Variant	esv1847865
Chromosome Location	chr16:82309273-82317199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82305728..82307988-chr16:82311473..82314764,3	MCF-7	breast:
2	chr16:82314631..82316519-chr16:82318553..82321502,2	K562	blood:
3	chr16:82315069..82317985-chr6:42750916..42752548,2	MCF-7	breast:
4	chr16:82305562..82308291-chr16:82312214..82314112,2	K562	blood:

Extended variants
information (count: 210 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2967315	chr16:82309273-82309274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34532834	chr16:82309302-82309303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113032984	chr16:82309315-82309316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559991416	chr16:82309316-82309317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55912927	chr16:82309326-82309327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2967314	chr16:82309330-82309331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2967313	chr16:82309352-82309353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11647848	chr16:82309375-82309376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56202819	chr16:82309394-82309395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11281150	chr16:82313800-82313801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200611478	chr16:82313801-82313802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12596096	chr16:82313813-82313814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551457554	chr16:82313832-82313833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571074690	chr16:82313847-82313848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2932823	chr16:82313854-82313855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563748410	chr16:82313862-82313863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79511184	chr16:82313915-82313916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115320025	chr16:82313933-82313934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535884364	chr16:82313975-82313976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187753479	chr16:82313986-82313987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575548425	chr16:82313987-82313988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545996736	chr16:82313999-82314000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564213183	chr16:82314008-82314009	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572727741	chr16:82314009-82314010	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540021392	chr16:82314019-82314020	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572773260	chr16:82314035-82314036	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200579285	chr16:82314074-82314075	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76156477	chr16:82314075-82314076	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141401376	chr16:82314077-82314078	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556019356	chr16:82314090-82314091	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562350968	chr16:82314121-82314122	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192670703	chr16:82314147-82314148	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551526238	chr16:82314176-82314177	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566552795	chr16:82314182-82314183	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535269467	chr16:82314185-82314186	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117716440	chr16:82314187-82314188	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183490811	chr16:82314198-82314199	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201663651	chr16:82314212-82314213	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535778174	chr16:82314231-82314232	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs147015533	chr16:82314245-82314246	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2967307	chr16:82314277-82314278	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs2317832	chr16:82314281-82314282	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs557863803	chr16:82314283-82314284	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs577729384	chr16:82314337-82314338	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs9931705	chr16:82314357-82314358	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138090128	chr16:82314384-82314385	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561546350	chr16:82314394-82314395	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs75073617	chr16:82314395-82314396	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs149062480	chr16:82314443-82314444	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs199720511	chr16:82314445-82314446	Enhancers Flanking Active TSS	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82309200-82309400	Weak transcription	Left Ventricle	heart
2	chr16:82313800-82314200	Weak transcription	Left Ventricle	heart
3	chr16:82313800-82315200	Enhancers	HSMMtube	muscle
4	chr16:82314000-82314400	Active TSS	Fetal Heart	heart
5	chr16:82314200-82314400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr16:82314200-82314800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr16:82314200-82315600	Enhancers	Colon Smooth Muscle	Colon
8	chr16:82314400-82314800	Enhancers	Aorta	Aorta
9	chr16:82314400-82314800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr16:82314400-82315200	Enhancers	Right Atrium	heart
11	chr16:82314400-82315400	Flanking Active TSS	Fetal Heart	heart
12	chr16:82314400-82315600	Enhancers	Left Ventricle	heart
13	chr16:82314600-82315200	Enhancers	Psoas Muscle	Psoas
14	chr16:82314800-82315200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr16:82314800-82315200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr16:82314800-82316800	Weak transcription	Aorta	Aorta
17	chr16:82315200-82315600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr16:82315200-82315800	Active TSS	HSMMtube	muscle
19	chr16:82315200-82317000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr16:82315400-82317400	Enhancers	Fetal Heart	heart
21	chr16:82315600-82316800	Weak transcription	Left Ventricle	heart
22	chr16:82315600-82317000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr16:82316600-82316800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr16:82316800-82317600	Enhancers	Left Ventricle	heart
25	chr16:82316800-82317800	Enhancers	Aorta	Aorta

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