Variant report

Variant	esv20421
Chromosome Location	chr16:35245740-35251886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 334 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546757666	chr16:35245764-35245765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200055672	chr16:35245779-35245780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571630732	chr16:35245809-35245810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184361337	chr16:35245810-35245811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553159262	chr16:35245815-35245816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575634407	chr16:35245816-35245817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79674976	chr16:35245821-35245822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555048464	chr16:35245823-35245824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372723334	chr16:35245825-35245826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573215198	chr16:35245831-35245832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376967327	chr16:35245832-35245833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540440875	chr16:35245835-35245836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565043742	chr16:35245836-35245837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577087581	chr16:35245837-35245838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544550449	chr16:35245841-35245842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562640014	chr16:35245849-35245850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558718164	chr16:35245855-35245856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547838737	chr16:35245872-35245873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560210372	chr16:35245881-35245882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8175776	chr16:35245887-35245888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201476561	chr16:35245895-35245896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571543001	chr16:35245896-35245897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538838345	chr16:35245897-35245898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551303162	chr16:35245929-35245930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199779010	chr16:35245980-35245981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569401729	chr16:35245988-35245989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188746829	chr16:35246033-35246034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536657433	chr16:35246043-35246044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113042748	chr16:35246081-35246082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554631069	chr16:35246097-35246098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573395090	chr16:35246098-35246099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12920527	chr16:35246101-35246102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12934237	chr16:35246106-35246107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534313001	chr16:35246123-35246124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559075591	chr16:35246126-35246127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577159396	chr16:35246129-35246130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544377708	chr16:35246152-35246153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113200258	chr16:35246176-35246177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201481540	chr16:35246255-35246256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113169480	chr16:35246262-35246263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181947735	chr16:35246265-35246266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113535535	chr16:35246268-35246269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189590515	chr16:35246274-35246275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180786116	chr16:35246295-35246296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186726383	chr16:35246566-35246567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191224341	chr16:35246648-35246649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182512022	chr16:35246658-35246659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200628869	chr16:35246706-35246707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186185435	chr16:35246802-35246803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190511468	chr16:35246804-35246805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Ductal carcinoma	22052326	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35239800-35250200	Weak transcription	K562	blood
2	chr16:35248600-35250000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr16:35248800-35250400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr16:35249000-35249400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr16:35249000-35249400	ZNF genes & repeats	HUVEC	blood vessel
6	chr16:35249000-35250400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:35249000-35250600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:35249000-35250600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr16:35249000-35250600	Active TSS	Fetal Heart	heart
10	chr16:35249000-35250600	ZNF genes & repeats	Fetal Lung	lung
11	chr16:35249000-35250600	ZNF genes & repeats	HMEC	breast
12	chr16:35249400-35250400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr16:35250200-35250400	ZNF genes & repeats	HUVEC	blood vessel
14	chr16:35250200-35250400	ZNF genes & repeats	NHLF	lung
15	chr16:35250200-35250600	ZNF genes & repeats	HSMM	muscle
16	chr16:35250200-35250600	ZNF genes & repeats	HSMMtube	muscle
17	chr16:35250200-35250600	ZNF genes & repeats	K562	blood
18	chr16:35250200-35250600	ZNF genes & repeats	NH-A	brain
19	chr16:35250600-35267400	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links