Variant report

Variant	nsv9348
Chromosome Location	chr16:12642414-12649190
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	chr16:12646912..12648633-chr16:12652435..12654729,2	K562	blood:
2	chr16:12633130..12635327-chr16:12640812..12643626,2	K562	blood:

Extended variants
information (count: 1118 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1118 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547431439	chr16:12642416-12642417	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs8047212	chr16:12642421-12642422	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538862233	chr16:12642424-12642425	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs369733137	chr16:12642427-12642428	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549856443	chr16:12642437-12642438	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569824950	chr16:12642445-12642446	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535292944	chr16:12642452-12642453	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372290235	chr16:12642454-12642455	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183855001	chr16:12642455-12642456	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs4287556	chr16:12642457-12642458	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs553728654	chr16:12642461-12642462	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577214332	chr16:12642462-12642463	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs546465611	chr16:12642465-12642466	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537845897	chr16:12642478-12642479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554173863	chr16:12642502-12642503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576534347	chr16:12642512-12642513	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs118110267	chr16:12642517-12642518	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs556604054	chr16:12642518-12642519	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561733414	chr16:12642528-12642529	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369815143	chr16:12642543-12642544	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs574376344	chr16:12642555-12642556	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs527365455	chr16:12642568-12642569	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540105426	chr16:12642571-12642572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs2859789	chr16:12642581-12642582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs149974445	chr16:12642583-12642584	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs187090145	chr16:12642596-12642597	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs377172453	chr16:12642612-12642613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533671067	chr16:12642615-12642616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550011073	chr16:12642618-12642619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569872153	chr16:12642620-12642621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536255911	chr16:12642624-12642625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576586034	chr16:12642632-12642633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529018657	chr16:12642640-12642641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147250931	chr16:12642642-12642643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565564032	chr16:12642643-12642644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2561032	chr16:12642651-12642652	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565374884	chr16:12642653-12642654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140766736	chr16:12642655-12642656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75460892	chr16:12642659-12642660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539451850	chr16:12642667-12642668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2561033	chr16:12642671-12642672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs576680046	chr16:12642676-12642677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs3893852	chr16:12642682-12642683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369373316	chr16:12642684-12642685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113542200	chr16:12642686-12642687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572728057	chr16:12642697-12642698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373036713	chr16:12642699-12642700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111423087	chr16:12642707-12642708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386789116	chr16:12642708-12642709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543957135	chr16:12642709-12642710	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
Schizophrenia	23813976	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12625800-12643400	Weak transcription	Gastric	stomach
3	chr16:12632800-12646600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
5	chr16:12633000-12646600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr16:12633400-12654400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:12635000-12644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:12636000-12642600	Flanking Active TSS	GM12878-XiMat	blood
9	chr16:12637600-12642800	Enhancers	Primary B cells from cord blood	blood
10	chr16:12638600-12643000	Enhancers	Primary B cells from peripheral blood	blood
11	chr16:12638600-12644000	Weak transcription	Primary T cells from cord blood	blood
12	chr16:12638800-12645400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:12639200-12643000	Enhancers	Esophagus	oesophagus
14	chr16:12639400-12645000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:12639400-12646800	Weak transcription	Brain Angular Gyrus	brain
16	chr16:12639400-12659000	Weak transcription	Lung	lung
17	chr16:12639600-12645800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:12640000-12647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:12640200-12644200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr16:12640600-12646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:12640800-12642800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:12641000-12643000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:12641200-12646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:12641200-12646600	Weak transcription	Brain Substantia Nigra	brain
25	chr16:12641200-12667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr16:12641400-12643000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr16:12641400-12643600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr16:12641400-12644600	Weak transcription	Thymus	Thymus
29	chr16:12641600-12643400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr16:12641600-12646400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr16:12641800-12642600	Weak transcription	Fetal Muscle Leg	muscle
32	chr16:12642000-12645600	Weak transcription	HSMMtube	muscle
33	chr16:12642000-12646600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr16:12642000-12662200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr16:12642200-12642600	Weak transcription	Brain Hippocampus Middle	brain
36	chr16:12642200-12643400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:12642200-12655000	Weak transcription	Spleen	Spleen
38	chr16:12642400-12642600	Weak transcription	Right Ventricle	heart
39	chr16:12642400-12643000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:12642400-12644600	Weak transcription	Fetal Thymus	thymus
41	chr16:12642400-12653000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:12642600-12642800	Enhancers	Brain Hippocampus Middle	brain
43	chr16:12642600-12644000	Enhancers	GM12878-XiMat	blood
44	chr16:12642800-12643800	Weak transcription	Primary B cells from cord blood	blood
45	chr16:12642800-12644800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr16:12642800-12646600	Weak transcription	Brain Hippocampus Middle	brain
47	chr16:12643000-12643200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:12643000-12643200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr16:12643000-12644200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr16:12643000-12645200	Weak transcription	Esophagus	oesophagus

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