Variant report

Variant	esv3442318
Chromosome Location	chr16:80626351-80628649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80620426..80622988-chr16:80624627..80626821,2	MCF-7	breast:
2	chr16:80625101..80626775-chr16:80839502..80841949,2	MCF-7	breast:
3	chr16:80619522..80621820-chr16:80626641..80628451,2	MCF-7	breast:
4	chr16:80622034..80624182-chr16:80626322..80628140,2	MCF-7	breast:
5	chr16:80627231..80629470-chr16:80631893..80634633,2	K562	blood:
6	chr16:80626642..80629470-chr16:80631893..80634633,3	K562	blood:
7	chr16:80623692..80626755-chr16:80631234..80633032,3	MCF-7	breast:

Extended variants
information (count: 110 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567669006	chr16:80626355-80626356	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151284812	chr16:80626384-80626385	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549911398	chr16:80626420-80626421	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571577816	chr16:80626459-80626460	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539392750	chr16:80626483-80626484	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35015176	chr16:80626488-80626489	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184365140	chr16:80626517-80626518	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76461021	chr16:80626519-80626520	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548736780	chr16:80626526-80626527	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140503028	chr16:80626555-80626556	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555569373	chr16:80626580-80626581	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147049866	chr16:80626586-80626587	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371251080	chr16:80626592-80626593	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544251449	chr16:80626598-80626599	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568714146	chr16:80626653-80626654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537762625	chr16:80626656-80626657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555924826	chr16:80626657-80626658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577561675	chr16:80626659-80626660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545320688	chr16:80626664-80626665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7202869	chr16:80626674-80626675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs527944477	chr16:80626756-80626757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367995511	chr16:80626758-80626759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138849884	chr16:80626787-80626788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142797574	chr16:80626801-80626802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531721946	chr16:80626802-80626803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189802613	chr16:80626803-80626804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571599368	chr16:80626821-80626822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147017630	chr16:80626842-80626843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551736795	chr16:80626863-80626864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16953631	chr16:80626882-80626883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138201664	chr16:80626891-80626892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9927579	chr16:80626910-80626911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567442525	chr16:80626954-80626955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537587522	chr16:80626968-80626969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117525011	chr16:80627006-80627007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553427292	chr16:80627016-80627017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571608833	chr16:80627021-80627022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577599948	chr16:80627066-80627067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149469199	chr16:80627090-80627091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549969226	chr16:80627135-80627136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553323473	chr16:80627217-80627218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2316157	chr16:80627261-80627262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542872688	chr16:80627305-80627306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561364171	chr16:80627344-80627345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576577133	chr16:80627345-80627346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374889049	chr16:80627369-80627370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543582365	chr16:80627387-80627388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181475358	chr16:80627418-80627419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111342478	chr16:80627425-80627426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143878527	chr16:80627474-80627475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80619200-80632600	Weak transcription	Hela-S3	cervix
2	chr16:80621200-80628200	Weak transcription	Placenta	Placenta
3	chr16:80624400-80626600	Enhancers	Primary hematopoietic stem cells	blood
4	chr16:80624800-80626400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:80624800-80626400	Enhancers	Fetal Thymus	thymus
6	chr16:80624800-80626400	Enhancers	Dnd41	blood
7	chr16:80624800-80626600	Weak transcription	Right Ventricle	heart
8	chr16:80624800-80626600	Enhancers	Thymus	Thymus
9	chr16:80625400-80626400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:80625400-80626600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr16:80625400-80645600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:80625600-80626400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:80625600-80626400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr16:80625600-80626600	Enhancers	Primary T cells from cord blood	blood
15	chr16:80625600-80626600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr16:80625600-80626600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr16:80625600-80626600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr16:80625600-80636000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr16:80625600-80637800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:80625800-80626400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr16:80625800-80626800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr16:80626000-80626800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:80626000-80639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:80626200-80626600	Enhancers	Liver	Liver
25	chr16:80626200-80637800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr16:80626200-80640000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr16:80626200-80640000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr16:80626400-80636800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:80626600-80626800	Enhancers	Right Ventricle	heart
30	chr16:80626600-80636600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr16:80626600-80637800	Weak transcription	Liver	Liver
32	chr16:80626800-80645800	Weak transcription	Right Ventricle	heart
33	chr16:80628200-80629200	Enhancers	Placenta	Placenta
34	chr16:80628400-80628600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:80628400-80629000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:80628400-80629200	Enhancers	NHDF-Ad	bronchial
37	chr16:80628400-80629200	Enhancers	NHEK	skin
38	chr16:80628600-80629000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:80628600-80629000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:80628600-80636400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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