Variant report

Variant	nsv522379
Chromosome Location	chr12:31816623-31817163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs900610	chr12:31816623-31816624	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145153340	chr12:31816673-31816674	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11051520	chr12:31816681-31816682	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576522367	chr12:31816709-31816710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539070372	chr12:31816750-31816751	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs900609	chr12:31816767-31816768	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs77970904	chr12:31816770-31816771	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554567149	chr12:31816810-31816811	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73303825	chr12:31816852-31816853	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149139606	chr12:31816910-31816911	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146546807	chr12:31816966-31816967	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574890469	chr12:31816967-31816968	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544108389	chr12:31817028-31817029	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563858899	chr12:31817043-31817044	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188468738	chr12:31817052-31817053	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551006507	chr12:31817085-31817086	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541576491	chr12:31817141-31817142	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552962355	chr12:31817148-31817149	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527393391	chr12:31817158-31817159	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4931536	chr12:31817163-31817164	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31812800-31818000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:31812800-31818000	Weak transcription	Spleen	Spleen
3	chr12:31812800-31818200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:31812800-31819600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:31812800-31823800	Weak transcription	Small Intestine	intestine
6	chr12:31813000-31816800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:31813000-31817200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:31813000-31822000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:31813000-31822000	Weak transcription	NH-A	brain
10	chr12:31813000-31826000	Weak transcription	Gastric	stomach
11	chr12:31813200-31816800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:31813200-31817000	Weak transcription	Fetal Kidney	kidney
13	chr12:31813200-31818000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:31813200-31818000	Weak transcription	Placenta	Placenta
15	chr12:31813200-31818400	Weak transcription	Esophagus	oesophagus
16	chr12:31813200-31822000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:31813200-31837000	Weak transcription	Fetal Brain Male	brain
18	chr12:31813400-31816800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:31813400-31818800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:31813400-31820600	Weak transcription	HSMMtube	muscle
21	chr12:31813400-31820800	Weak transcription	Ovary	ovary
22	chr12:31813400-31821600	Weak transcription	Thymus	Thymus
23	chr12:31813400-31821800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:31813400-31821800	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:31813400-31821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:31813400-31821800	Weak transcription	Fetal Lung	lung
27	chr12:31813400-31822000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:31813400-31822000	Weak transcription	Brain Anterior Caudate	brain
29	chr12:31813400-31822000	Weak transcription	Fetal Intestine Large	intestine
30	chr12:31813400-31822000	Weak transcription	Psoas Muscle	Psoas
31	chr12:31813400-31822000	Weak transcription	Right Ventricle	heart
32	chr12:31813400-31822200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:31813400-31822200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:31813400-31825200	Weak transcription	Aorta	Aorta
35	chr12:31813400-31825400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:31813400-31825600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:31813400-31826600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:31813400-31835200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:31813400-31835600	Weak transcription	Brain Angular Gyrus	brain
40	chr12:31813400-31836200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:31813600-31817000	Weak transcription	K562	blood
42	chr12:31813600-31818200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:31813600-31821800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:31813800-31821800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:31814200-31821800	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:31814200-31821800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:31814800-31817200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:31814800-31817200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:31815000-31817400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:31815200-31822000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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