Variant report

Variant	nsv438201
Chromosome Location	chr12:32523455-32531212
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	chr12:32522485..32524048-chr12:32531384..32533676,2	K562	blood:
2	chr12:32530472..32534353-chr12:32830607..32833580,3	K562	blood:

Variant related genes	Relation type
ENSG00000087470	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs901599	chr12:32523455-32523456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549006365	chr12:32523468-32523469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7964583	chr12:32523592-32523593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs11051962	chr12:32523600-32523601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551872231	chr12:32523634-32523635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571613221	chr12:32523670-32523671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533939604	chr12:32523671-32523672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183265837	chr12:32523693-32523694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75240108	chr12:32523716-32523717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567318450	chr12:32523772-32523773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187630631	chr12:32523792-32523793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192067345	chr12:32523799-32523800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151171737	chr12:32523800-32523801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80339850	chr12:32523823-32523824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76763883	chr12:32523824-32523825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141331690	chr12:32523880-32523881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375198110	chr12:32523936-32523937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561375629	chr12:32523957-32523958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60079307	chr12:32523962-32523963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200830418	chr12:32523963-32523964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5797476	chr12:32523967-32523968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201260279	chr12:32524005-32524006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557850088	chr12:32524025-32524026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369252301	chr12:32524073-32524074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184335725	chr12:32524137-32524138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540239656	chr12:32524158-32524159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560239965	chr12:32524167-32524168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528889331	chr12:32524171-32524172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145124206	chr12:32524173-32524174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562611229	chr12:32524215-32524216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531548112	chr12:32524216-32524217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189526960	chr12:32524247-32524248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374170011	chr12:32524261-32524262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192830849	chr12:32524291-32524292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527826362	chr12:32524431-32524432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547474783	chr12:32524433-32524434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184351626	chr12:32524493-32524494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561190805	chr12:32524512-32524513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543584656	chr12:32524517-32524518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556840015	chr12:32524536-32524537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71457638	chr12:32524554-32524555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11051963	chr12:32524587-32524588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372492842	chr12:32524600-32524601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189337489	chr12:32524628-32524629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531205800	chr12:32524646-32524647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543223542	chr12:32524647-32524648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540371771	chr12:32524678-32524679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531635433	chr12:32524802-32524803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553890843	chr12:32524898-32524899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181910449	chr12:32524915-32524916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
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
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32475600-32532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:32480600-32524800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:32492200-32523800	Weak transcription	Primary T cells from cord blood	blood
4	chr12:32492200-32523800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:32492200-32527400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:32492200-32530400	Weak transcription	Thymus	Thymus
7	chr12:32492400-32524200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:32492400-32527200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:32492400-32532000	Weak transcription	Brain Angular Gyrus	brain
10	chr12:32494200-32533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:32497400-32523800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:32502200-32523800	Weak transcription	Dnd41	blood
13	chr12:32502400-32524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:32508600-32527000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:32515000-32524000	Weak transcription	Spleen	Spleen
16	chr12:32515000-32526400	Weak transcription	Aorta	Aorta
17	chr12:32518800-32531800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:32519000-32524000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:32519000-32524000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:32519000-32530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:32519000-32530000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:32519000-32530000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:32519000-32530000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:32519000-32530200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:32519000-32530400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:32519200-32530200	Weak transcription	HSMM	muscle
27	chr12:32519200-32532000	Weak transcription	NHDF-Ad	bronchial
28	chr12:32520600-32529800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:32520800-32530600	Weak transcription	HSMMtube	muscle
30	chr12:32520800-32532400	Weak transcription	Fetal Intestine Small	intestine
31	chr12:32521000-32523800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:32521000-32524200	Weak transcription	Brain Germinal Matrix	brain
33	chr12:32522400-32530000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:32522400-32532200	Weak transcription	Osteobl	bone
35	chr12:32522600-32524200	Weak transcription	Fetal Stomach	stomach
36	chr12:32522600-32525600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:32522600-32526400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:32522600-32527200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:32522600-32529000	Weak transcription	Ovary	ovary
40	chr12:32522600-32530400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:32522600-32530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:32522600-32535800	Weak transcription	Fetal Brain Female	brain
43	chr12:32522800-32532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:32524800-32525000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr12:32525000-32525200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:32525600-32525800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:32525800-32529400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:32526400-32527800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:32526600-32526800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:32526800-32527200	Enhancers	Placenta	Placenta

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