Variant report

Variant	esv3426602
Chromosome Location	chr16:12400044-12401097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371322535	chr16:12400069-12400070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543545356	chr16:12400077-12400078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563916692	chr16:12400093-12400094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138847379	chr16:12400108-12400109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112525688	chr16:12400133-12400134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77871611	chr16:12400161-12400162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528737805	chr16:12400167-12400168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191737813	chr16:12400231-12400232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183635925	chr16:12400232-12400233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570900215	chr16:12400243-12400244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530638691	chr16:12400254-12400255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550355298	chr16:12400266-12400267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567474436	chr16:12400276-12400277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185440958	chr16:12400300-12400301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559963035	chr16:12400301-12400302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189958423	chr16:12400334-12400335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145401095	chr16:12400351-12400352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138032636	chr16:12400378-12400379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578043234	chr16:12400379-12400380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149520775	chr16:12400404-12400405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144126306	chr16:12400416-12400417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557147397	chr16:12400424-12400425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574194235	chr16:12400427-12400428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542887811	chr16:12400428-12400429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182545645	chr16:12400443-12400444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs36052848	chr16:12400540-12400541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528798992	chr16:12400560-12400561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79799183	chr16:12400573-12400574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568767007	chr16:12400593-12400594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564541170	chr16:12400611-12400612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530394919	chr16:12400613-12400614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148278722	chr16:12400629-12400630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567282801	chr16:12400636-12400637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529772015	chr16:12400645-12400646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568779379	chr16:12400655-12400656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs8051758	chr16:12400666-12400667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566664848	chr16:12400682-12400683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142679371	chr16:12400721-12400722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77423794	chr16:12400725-12400726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571638086	chr16:12400749-12400750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186563650	chr16:12400770-12400771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566104929	chr16:12400811-12400812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34051355	chr16:12400812-12400813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114531964	chr16:12400825-12400826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574096674	chr16:12400864-12400865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542701051	chr16:12400877-12400878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75925854	chr16:12400878-12400879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573054122	chr16:12400905-12400906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35478269	chr16:12400907-12400908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147355076	chr16:12401000-12401001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	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	22522925	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12359800-12418000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
3	chr16:12373400-12414200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr16:12374200-12417200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:12383200-12407800	Weak transcription	Gastric	stomach
6	chr16:12384400-12409000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:12385800-12410800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:12386400-12401600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:12388600-12408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:12395000-12403200	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:12395000-12409200	Weak transcription	Liver	Liver
12	chr16:12395200-12400200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:12395400-12401800	Weak transcription	Lung	lung
14	chr16:12395400-12401800	Weak transcription	Spleen	Spleen
15	chr16:12395400-12408000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:12395400-12413800	Weak transcription	Left Ventricle	heart
17	chr16:12395600-12401000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:12395600-12405200	Weak transcription	Esophagus	oesophagus
19	chr16:12395600-12405200	Weak transcription	Right Ventricle	heart
20	chr16:12395600-12408200	Weak transcription	Pancreas	Pancrea
21	chr16:12395600-12409400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:12395600-12417200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr16:12396000-12405200	Weak transcription	Adipose Nuclei	Adipose
24	chr16:12396000-12414800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr16:12396200-12414000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:12396800-12401200	Weak transcription	Primary B cells from cord blood	blood
27	chr16:12396800-12416400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr16:12397200-12407400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr16:12397600-12401200	Enhancers	Brain Germinal Matrix	brain
30	chr16:12397800-12408200	Weak transcription	GM12878-XiMat	blood
31	chr16:12398000-12405200	Weak transcription	Ovary	ovary
32	chr16:12398200-12403600	Weak transcription	Primary T cells from cord blood	blood
33	chr16:12398400-12400800	Enhancers	Fetal Brain Male	brain
34	chr16:12399000-12400800	Enhancers	Fetal Brain Female	brain
35	chr16:12399400-12407200	Weak transcription	HepG2	liver
36	chr16:12399600-12407800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:12399800-12400400	Enhancers	Brain Substantia Nigra	brain
38	chr16:12399800-12400800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr16:12399800-12408000	Weak transcription	NHEK	skin
40	chr16:12399800-12408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:12400000-12400200	Enhancers	Brain Hippocampus Middle	brain
42	chr16:12400000-12400200	Enhancers	Fetal Stomach	stomach
43	chr16:12400000-12400600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr16:12400000-12400800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:12400200-12401600	Weak transcription	Fetal Stomach	stomach
46	chr16:12400600-12402200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr16:12400800-12403200	Weak transcription	Fetal Brain Male	brain
48	chr16:12400800-12403200	Weak transcription	Fetal Brain Female	brain
49	chr16:12401000-12402800	Enhancers	Stomach Smooth Muscle	stomach

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