Variant report

Variant	esv1821336
Chromosome Location	chr16:76540062-76554487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:76542177..76544098-chr6:26155995..26158781,2	MCF-7	breast:
2	chr16:76534271..76535887-chr16:76537682..76540215,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158373	chromatin interactions
ENSG00000168298	chromatin interactions

Extended variants
information (count: 692 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:692 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4275875	chr16:76540062-76540063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554706830	chr16:76540119-76540120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541882171	chr16:76540128-76540129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79279704	chr16:76540162-76540163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4417572	chr16:76540194-76540195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201924916	chr16:76540284-76540285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200357958	chr16:76540292-76540293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553459330	chr16:76540295-76540296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576754300	chr16:76540297-76540298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142765004	chr16:76540312-76540313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202185159	chr16:76540316-76540317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374475664	chr16:76540318-76540319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528903436	chr16:76540319-76540320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551519097	chr16:76540322-76540323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184034541	chr16:76540336-76540337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546215677	chr16:76540357-76540358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112411556	chr16:76540367-76540368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7500543	chr16:76540387-76540388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs8058869	chr16:76540391-76540392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373997672	chr16:76540395-76540396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116481286	chr16:76540405-76540406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541973773	chr16:76540408-76540409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112479407	chr16:76540414-76540415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187819200	chr16:76540421-76540422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111787079	chr16:76540422-76540423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73618181	chr16:76540433-76540434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564357571	chr16:76540454-76540455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551839129	chr16:76540462-76540463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374279092	chr16:76540463-76540464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533351495	chr16:76540486-76540487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8053908	chr16:76540501-76540502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569084909	chr16:76540515-76540516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192498677	chr16:76540619-76540620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548368694	chr16:76540642-76540643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184500025	chr16:76540708-76540709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557356815	chr16:76540735-76540736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549960123	chr16:76540754-76540755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369931691	chr16:76540803-76540804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533899456	chr16:76540874-76540875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553819016	chr16:76540898-76540899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576807091	chr16:76540920-76540921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11149910	chr16:76540931-76540932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556584233	chr16:76540953-76540954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9937287	chr16:76540989-76540990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9927954	chr16:76541012-76541013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558953204	chr16:76541067-76541068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555513940	chr16:76541073-76541074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572284107	chr16:76541082-76541083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565284082	chr16:76541090-76541091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541208024	chr16:76541117-76541118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76525200-76554000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:76547000-76548200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:76548000-76548600	Enhancers	Brain Germinal Matrix	brain
4	chr16:76548200-76553000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:76551400-76551600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr16:76551400-76551600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr16:76551600-76552200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:76551800-76553000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:76552200-76554400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:76552400-76552800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr16:76552400-76553000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:76552400-76554200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr16:76552600-76553000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr16:76552600-76553000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:76552600-76554000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr16:76552600-76554400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr16:76552800-76553200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:76552800-76553800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr16:76552800-76554600	Enhancers	Brain Cingulate Gyrus	brain
20	chr16:76553000-76553800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:76553000-76554400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr16:76553200-76554000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr16:76553400-76553600	Enhancers	Liver	Liver
24	chr16:76553600-76562200	Weak transcription	Liver	Liver
25	chr16:76553800-76554200	Enhancers	Brain Angular Gyrus	brain
26	chr16:76554000-76554600	Enhancers	Brain Hippocampus Middle	brain
27	chr16:76554000-76554600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr16:76554000-76554600	Enhancers	Fetal Lung	lung
29	chr16:76554200-76569400	Weak transcription	Brain Angular Gyrus	brain
30	chr16:76554400-76556000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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