Variant report

Variant	nsv457413
Chromosome Location	chr16:12669335-12672862
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: 482 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:482 , 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	rs10163391	chr16:12669335-12669336	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574794557	chr16:12669341-12669342	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs540044245	chr16:12669352-12669353	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12923822	chr16:12669355-12669356	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573233634	chr16:12669364-12669365	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs11646298	chr16:12669366-12669367	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12929329	chr16:12669374-12669375	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558691207	chr16:12669387-12669388	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12923936	chr16:12669395-12669396	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561239929	chr16:12669400-12669401	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs369897410	chr16:12669405-12669406	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs77417738	chr16:12669407-12669408	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs146782056	chr16:12669411-12669412	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567090321	chr16:12669425-12669426	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532611078	chr16:12669430-12669431	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs114925044	chr16:12669441-12669442	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568973600	chr16:12669442-12669443	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs537797479	chr16:12669446-12669447	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs140539118	chr16:12669449-12669450	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs12923971	chr16:12669455-12669456	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568358298	chr16:12669473-12669474	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372555371	chr16:12669500-12669501	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs77590830	chr16:12669501-12669502	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553668900	chr16:12669513-12669514	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs144288647	chr16:12669518-12669519	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs146580567	chr16:12669524-12669525	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs66894342	chr16:12669529-12669530	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572866063	chr16:12669533-12669534	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs67389960	chr16:12669534-12669535	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560976441	chr16:12669544-12669545	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs189130881	chr16:12669547-12669548	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs149073615	chr16:12669550-12669551	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560641507	chr16:12669553-12669554	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs532690254	chr16:12669559-12669560	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs552809711	chr16:12669562-12669563	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs66627469	chr16:12669585-12669586	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531479884	chr16:12669603-12669604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143143522	chr16:12669605-12669606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs66870420	chr16:12669621-12669622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533575594	chr16:12669628-12669629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116415302	chr16:12669640-12669641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72775274	chr16:12669673-12669674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562658976	chr16:12669675-12669676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539610922	chr16:12669689-12669690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141756765	chr16:12669702-12669703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73512082	chr16:12669705-12669706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373449543	chr16:12669707-12669708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200465678	chr16:12669713-12669714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139450568	chr16:12669714-12669715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377648065	chr16:12669720-12669721	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
3	chr16:12661800-12670400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:12662800-12672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:12664000-12670600	Weak transcription	Gastric	stomach
6	chr16:12664200-12669400	Weak transcription	Brain Substantia Nigra	brain
7	chr16:12664600-12670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:12665000-12670600	Weak transcription	Spleen	Spleen
9	chr16:12667800-12670400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:12668000-12670600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:12668400-12670200	Weak transcription	Primary B cells from cord blood	blood
12	chr16:12668400-12672400	Weak transcription	Fetal Intestine Small	intestine
13	chr16:12668600-12671000	Weak transcription	HepG2	liver
14	chr16:12668600-12672200	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:12668800-12669600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr16:12668800-12670400	Weak transcription	GM12878-XiMat	blood
17	chr16:12669000-12669400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:12669200-12669400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:12669200-12669400	Enhancers	Brain Cingulate Gyrus	brain
20	chr16:12669200-12669600	ZNF genes & repeats	Aorta	Aorta
21	chr16:12669200-12669600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr16:12669400-12669600	Enhancers	Brain Substantia Nigra	brain
23	chr16:12669400-12673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:12670200-12672000	Enhancers	Primary B cells from cord blood	blood
25	chr16:12670400-12670800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr16:12670400-12670800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr16:12670400-12670800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:12670400-12670800	Enhancers	GM12878-XiMat	blood
29	chr16:12670600-12671000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:12670600-12671000	Enhancers	Gastric	stomach
31	chr16:12670600-12671000	Enhancers	Spleen	Spleen
32	chr16:12670800-12671000	ZNF genes & repeats	Pancreas	Pancrea
33	chr16:12670800-12674400	Weak transcription	GM12878-XiMat	blood
34	chr16:12671000-12671200	Enhancers	HepG2	liver
35	chr16:12671000-12671400	Weak transcription	Spleen	Spleen
36	chr16:12671000-12678400	Weak transcription	Gastric	stomach
37	chr16:12671200-12672000	Enhancers	Fetal Brain Male	brain
38	chr16:12671200-12677600	Weak transcription	HepG2	liver
39	chr16:12672000-12672400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:12672200-12674400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr16:12672400-12674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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