Variant report

Variant	esv3503993
Chromosome Location	chr12:9756955-9758270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200543169	chr12:9756995-9756996	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs36037376	chr12:9756999-9757000	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs72353878	chr12:9757000-9757001	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs57219925	chr12:9757002-9757003	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs202082865	chr12:9757003-9757004	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113510703	chr12:9757007-9757008	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs140660903	chr12:9757035-9757036	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7953065	chr12:9757051-9757052	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144724322	chr12:9757121-9757122	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs116447682	chr12:9757122-9757123	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530299742	chr12:9757134-9757135	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185596027	chr12:9757151-9757152	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs10844160	chr12:9757154-9757155	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs74062901	chr12:9757241-9757242	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116594109	chr12:9757255-9757256	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs189149686	chr12:9757290-9757291	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs77209447	chr12:9757352-9757353	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs181866423	chr12:9757369-9757370	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376355415	chr12:9757372-9757373	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186025998	chr12:9757468-9757469	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553679079	chr12:9757498-9757499	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190410853	chr12:9757532-9757533	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138574466	chr12:9757542-9757543	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141169807	chr12:9757553-9757554	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs35338515	chr12:9757577-9757578	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34451996	chr12:9757580-9757581	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs181350292	chr12:9757597-9757598	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs111533435	chr12:9757619-9757620	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs574286145	chr12:9757620-9757621	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs35080150	chr12:9757621-9757622	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs137876685	chr12:9757655-9757656	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs57984884	chr12:9757679-9757680	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs12580472	chr12:9757689-9757690	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs140548194	chr12:9757735-9757736	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs202056653	chr12:9757818-9757819	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186362019	chr12:9757833-9757834	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369034000	chr12:9757896-9757897	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs79536473	chr12:9757900-9757901	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs573321104	chr12:9757913-9757914	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs142803500	chr12:9757961-9757962	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11051877	chr12:9757973-9757974	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs563815593	chr12:9758023-9758024	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77179489	chr12:9758028-9758029	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs11051879	chr12:9758119-9758120	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs7136322	chr12:9758131-9758132	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs148529658	chr12:9758145-9758146	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs142851955	chr12:9758171-9758172	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs151041727	chr12:9758214-9758215	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113763461	chr12:9758230-9758231	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs75789990	chr12:9758242-9758243	Weak transcription Active TSS 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:27 , 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	chr12:9746000-9760000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:9750000-9759600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:9751400-9758000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:9755800-9757400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:9755800-9771200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:9756400-9757000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:9756600-9757000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:9756600-9757200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:9756800-9757000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:9756800-9757200	Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:9757000-9757200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:9757000-9758200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:9757000-9758400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:9757200-9758000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:9757200-9758000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:9757200-9760600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:9757200-9763000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:9757400-9757800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:9757800-9759200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:9758000-9758400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr12:9758000-9760400	Active TSS	Primary T cells fromperipheralblood	blood
25	chr12:9758000-9760600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:9758200-9758400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:9758200-9760600	Active TSS	Rectal Mucosa Donor 29	rectum

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