Variant report

Variant	esv18787
Chromosome Location	chr16:12671039-12674109
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	chr16:12664367..12666728-chr16:12670658..12673027,2	K562	blood:

Extended variants
information (count: 463 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551629009	chr16:12671039-12671040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562562303	chr16:12671046-12671047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192202672	chr16:12671051-12671052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12172837	chr16:12671053-12671054	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs371218751	chr16:12671058-12671059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201500569	chr16:12671060-12671061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567227963	chr16:12671066-12671067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114929056	chr16:12671075-12671076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368981074	chr16:12671077-12671078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139771705	chr16:12671093-12671094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142728810	chr16:12671098-12671099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558852762	chr16:12671099-12671100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530895014	chr16:12671109-12671110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575653195	chr16:12671124-12671125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544414666	chr16:12671131-12671132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146055497	chr16:12671151-12671152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185739995	chr16:12671162-12671163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148725516	chr16:12671165-12671166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559613178	chr16:12671172-12671173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528420688	chr16:12671173-12671174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376865341	chr16:12671174-12671175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189162033	chr16:12671175-12671176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570333033	chr16:12671179-12671180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142344822	chr16:12671195-12671196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550879412	chr16:12671212-12671213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567814113	chr16:12671218-12671219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11075097	chr16:12671219-12671220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs546629154	chr16:12671235-12671236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566456390	chr16:12671237-12671238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538630977	chr16:12671239-12671240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558630242	chr16:12671245-12671246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72185754	chr16:12671251-12671252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398100093	chr16:12671253-12671254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376797215	chr16:12671260-12671261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs67073953	chr16:12671268-12671269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560692965	chr16:12671279-12671280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546249332	chr16:12671281-12671282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551950502	chr16:12671285-12671286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567116064	chr16:12671287-12671288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555346793	chr16:12671289-12671290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57226471	chr16:12671295-12671296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527935136	chr16:12671303-12671304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151285493	chr16:12671310-12671311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574546706	chr16:12671319-12671320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75422202	chr16:12671331-12671332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553390699	chr16:12671338-12671339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374048425	chr16:12671368-12671369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57227046	chr16:12671369-12671370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544980152	chr16:12671383-12671384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564972822	chr16:12671386-12671387	Weak transcription 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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
2	chr16:12662800-12672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:12668400-12672400	Weak transcription	Fetal Intestine Small	intestine
4	chr16:12668600-12672200	Enhancers	Primary B cells from peripheral blood	blood
5	chr16:12669400-12673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:12670200-12672000	Enhancers	Primary B cells from cord blood	blood
7	chr16:12670800-12674400	Weak transcription	GM12878-XiMat	blood
8	chr16:12671000-12671200	Enhancers	HepG2	liver
9	chr16:12671000-12671400	Weak transcription	Spleen	Spleen
10	chr16:12671000-12678400	Weak transcription	Gastric	stomach
11	chr16:12671200-12672000	Enhancers	Fetal Brain Male	brain
12	chr16:12671200-12677600	Weak transcription	HepG2	liver
13	chr16:12672000-12672400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:12672200-12674400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr16:12672400-12674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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