Variant report

Variant	esv3342466
Chromosome Location	chr16:12723124-12727490
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	chr16:12714846..12717275-chr16:12723498..12725575,2	K562	blood:

Extended variants
information (count: 433 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539961119	chr16:12723128-12723129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9930512	chr16:12723131-12723132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145482788	chr16:12723136-12723137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111866345	chr16:12723148-12723149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531682219	chr16:12723155-12723156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369477651	chr16:12723158-12723159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550100738	chr16:12723159-12723160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs398028760	chr16:12723177-12723178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548480568	chr16:12723178-12723179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568292508	chr16:12723196-12723197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574685704	chr16:12723249-12723250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558298778	chr16:12723251-12723252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182395240	chr16:12723254-12723255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547076678	chr16:12723266-12723267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7198104	chr16:12723272-12723273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186675348	chr16:12723289-12723290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566446220	chr16:12723290-12723291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143507922	chr16:12723292-12723293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7197582	chr16:12723305-12723306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532345874	chr16:12723311-12723312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12448407	chr16:12723318-12723319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574713626	chr16:12723319-12723320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540424815	chr16:12723320-12723321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560202429	chr16:12723336-12723337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143191979	chr16:12723348-12723349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11075133	chr16:12723359-12723360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550600044	chr16:12723362-12723363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77419081	chr16:12723366-12723367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562371043	chr16:12723367-12723368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531314782	chr16:12723387-12723388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542158529	chr16:12723401-12723402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561920522	chr16:12723407-12723408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74774999	chr16:12723408-12723409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117873627	chr16:12723409-12723410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7359474	chr16:12723416-12723417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532528737	chr16:12723419-12723420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552626028	chr16:12723420-12723421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568927001	chr16:12723421-12723422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537820655	chr16:12723429-12723430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77948806	chr16:12723432-12723433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568373090	chr16:12723441-12723442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193268579	chr16:12723453-12723454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554116088	chr16:12723457-12723458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536497160	chr16:12723459-12723460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577344203	chr16:12723473-12723474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545612448	chr16:12723485-12723486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147095044	chr16:12723496-12723497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7359430	chr16:12723507-12723508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113520874	chr16:12723508-12723509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540968983	chr16:12723513-12723514	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
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	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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12721200-12723600	Enhancers	A549	lung
2	chr16:12721800-12723200	Enhancers	HUVEC	blood vessel
3	chr16:12723600-12724400	Enhancers	HepG2	liver
4	chr16:12724400-12734800	Weak transcription	HepG2	liver
5	chr16:12724800-12725000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links