Variant report

Variant	nsv8912
Chromosome Location	chr12:9923685-9926320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9925530..9928012-chr12:9928111..9929858,2	K562	blood:
2	chr12:9923247..9924749-chr12:9924893..9927763,2	MCF-7	breast:
3	chr12:9924505..9927030-chr12:9928111..9932157,3	K562	blood:
4	chr12:9922886..9925340-chr12:9946588..9948897,3	K562	blood:
5	chr12:9923247..9924749-chr12:9924893..9927763,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75122584	chr12:9923689-9923690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7316342	chr12:9923744-9923745	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs139589326	chr12:9923785-9923786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116155791	chr12:9923820-9923821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377107860	chr12:9923821-9923822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148359625	chr12:9923850-9923851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7965258	chr12:9923917-9923918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116329628	chr12:9923920-9923921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7316608	chr12:9923974-9923975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374808694	chr12:9923978-9923979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139171029	chr12:9923979-9923980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7300872	chr12:9923982-9923983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376799160	chr12:9923983-9923984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111517741	chr12:9923986-9923987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10522519	chr12:9924004-9924005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530063027	chr12:9924035-9924036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117117325	chr12:9924083-9924084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567144151	chr12:9924116-9924117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370129221	chr12:9924132-9924133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141766454	chr12:9924151-9924152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372455016	chr12:9924241-9924242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199553485	chr12:9924286-9924287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147080657	chr12:9924296-9924297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77589365	chr12:9924329-9924330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374017675	chr12:9924429-9924430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370475698	chr12:9924452-9924453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199546043	chr12:9924453-9924454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200676805	chr12:9924454-9924455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202031544	chr12:9924455-9924456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200683563	chr12:9924458-9924459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151177564	chr12:9924459-9924460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs59962414	chr12:9924460-9924461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192556069	chr12:9924522-9924523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374041076	chr12:9924579-9924580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367925299	chr12:9924680-9924681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138724927	chr12:9924690-9924691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532783462	chr12:9924784-9924785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548584072	chr12:9924828-9924829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372152087	chr12:9924866-9924867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371245433	chr12:9924882-9924883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10772132	chr12:9924912-9924913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs75410825	chr12:9924976-9924977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201758905	chr12:9924977-9924978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374604080	chr12:9924988-9924989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs36105664	chr12:9925033-9925034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149368470	chr12:9925035-9925036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34850016	chr12:9925036-9925037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140590123	chr12:9925087-9925088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11834929	chr12:9925105-9925106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150728809	chr12:9925106-9925107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9917600-9927200	Weak transcription	Esophagus	oesophagus
2	chr12:9918400-9924800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:9918400-9925800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:9918400-9925800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:9918400-9925800	Weak transcription	Thymus	Thymus
6	chr12:9918400-9927200	Weak transcription	K562	blood
7	chr12:9918600-9925400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:9918600-9932000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:9919800-9923800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:9920000-9925200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:9920200-9925800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:9921800-9924600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:9921800-9925200	Weak transcription	Dnd41	blood
14	chr12:9922200-9924400	Weak transcription	Primary T cells from cord blood	blood
15	chr12:9922400-9925800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:9922800-9923800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:9922800-9924400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:9922800-9924600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:9923000-9924400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:9923000-9925600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:9923400-9924600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:9923600-9925200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:9923600-9926400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:9923800-9924200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:9923800-9924800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:9924200-9925800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:9924400-9925200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:9924400-9926400	Enhancers	Primary T cells from cord blood	blood
29	chr12:9924400-9930200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:9924600-9924800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:9924600-9925800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:9924600-9930600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:9924800-9925200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:9924800-9929200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:9924800-9930200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:9925200-9925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:9925200-9925800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:9925200-9925800	Enhancers	Dnd41	blood
39	chr12:9925200-9930000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:9925200-9930000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr12:9925400-9927600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr12:9925600-9928000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:9925600-9928400	Enhancers	Primary hematopoietic stem cells	blood
44	chr12:9925800-9926000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr12:9925800-9926000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr12:9925800-9926200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:9925800-9926200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr12:9925800-9926400	Enhancers	Thymus	Thymus
49	chr12:9925800-9926800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr12:9925800-9926800	Flanking Active TSS	Dnd41	blood

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