Variant report

Variant	nsv8909
Chromosome Location	chr12:9754887-9758694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184704822	chr12:9754957-9754958	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187478014	chr12:9754964-9754965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199752546	chr12:9755009-9755010	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34658809	chr12:9755025-9755026	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544362585	chr12:9755193-9755194	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573219255	chr12:9755517-9755518	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370232191	chr12:9755527-9755528	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4763655	chr12:9755578-9755579	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs386760194	chr12:9755603-9755604	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191900551	chr12:9755697-9755698	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558207138	chr12:9755716-9755717	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578047823	chr12:9755781-9755782	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371524227	chr12:9755807-9755808	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17805438	chr12:9755812-9755813	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116500421	chr12:9755839-9755840	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76647678	chr12:9755842-9755843	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184812612	chr12:9755895-9755896	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12818361	chr12:9755904-9755905	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4763657	chr12:9755905-9755906	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139919258	chr12:9755939-9755940	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148830030	chr12:9756021-9756022	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35757158	chr12:9756029-9756030	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56793467	chr12:9756042-9756043	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377566056	chr12:9756076-9756077	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202081215	chr12:9756097-9756098	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374996153	chr12:9756169-9756170	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10743785	chr12:9756177-9756178	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs527385564	chr12:9756182-9756183	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552068644	chr12:9756194-9756195	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35214620	chr12:9756195-9756196	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189269716	chr12:9756224-9756225	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547060557	chr12:9756232-9756233	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374356742	chr12:9756312-9756313	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563754425	chr12:9756317-9756318	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532750611	chr12:9756321-9756322	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73252327	chr12:9756322-9756323	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs112399400	chr12:9756330-9756331	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180746060	chr12:9756403-9756404	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370704964	chr12:9756423-9756424	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145425065	chr12:9756447-9756448	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546830739	chr12:9756479-9756480	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28376918	chr12:9756489-9756490	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375349947	chr12:9756590-9756591	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569927744	chr12:9756598-9756599	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571880068	chr12:9756614-9756615	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs57960439	chr12:9756615-9756616	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs149221999	chr12:9756757-9756758	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143378047	chr12:9756781-9756782	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113260355	chr12:9756803-9756804	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs115336823	chr12:9756805-9756806	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9734400-9763000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:9736000-9760200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:9738200-9759600	Weak transcription	Primary T cells from cord blood	blood
4	chr12:9744600-9755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:9745600-9755600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:9746000-9760000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:9746600-9756400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:9750000-9759600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:9750400-9756800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:9751400-9758000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:9753000-9755400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:9754200-9755800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:9755400-9755600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:9755600-9756600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:9755600-9756800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:9755800-9756600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:9755800-9757400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:9755800-9771200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:9756400-9757000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:9756600-9757000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:9756600-9757200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:9756800-9757000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:9756800-9757200	Active TSS	Primary T cells fromperipheralblood	blood
24	chr12:9757000-9757200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:9757000-9758200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:9757000-9758400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:9757200-9758000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:9757200-9758000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:9757200-9760600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:9757200-9763000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:9757400-9757800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:9757800-9759200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:9758000-9758400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr12:9758000-9760400	Active TSS	Primary T cells fromperipheralblood	blood
35	chr12:9758000-9760600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:9758200-9758400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:9758200-9760600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr12:9758400-9758800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:9758400-9759200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr12:9758400-9759600	Active TSS	Primary T helper cells fromperipheralblood	blood

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