Variant report

Variant	esv3482341
Chromosome Location	chr12:7799556-7800663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7307260	chr12:7799586-7799587	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11055012	chr12:7799791-7799792	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs201078166	chr12:7799954-7799955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140080113	chr12:7799955-7799956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370732090	chr12:7800075-7800076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150304943	chr12:7800083-7800084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs60557242	chr12:7800095-7800096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369666898	chr12:7800096-7800097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200080173	chr12:7800097-7800098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201262211	chr12:7800098-7800099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56057691	chr12:7800099-7800100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58948580	chr12:7800107-7800108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147788486	chr12:7800131-7800132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190444166	chr12:7800147-7800148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7310952	chr12:7800160-7800161	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536827369	chr12:7800183-7800184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181694908	chr12:7800232-7800233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144978612	chr12:7800247-7800248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371381865	chr12:7800275-7800276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs60370337	chr12:7800281-7800282	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534409092	chr12:7800282-7800283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149107965	chr12:7800381-7800382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143200730	chr12:7800382-7800383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7975771	chr12:7800383-7800384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114550018	chr12:7800448-7800449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369602275	chr12:7800460-7800461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151228162	chr12:7800543-7800544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140264052	chr12:7800576-7800577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7976005	chr12:7800602-7800603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186772084	chr12:7800604-7800605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145465870	chr12:7800625-7800626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	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
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Nasopharyngeal cancer	20548289	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7791400-7803600	Weak transcription	Fetal Intestine Large	intestine
2	chr12:7798000-7799600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:7798200-7800000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:7798200-7800000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:7798200-7800400	Enhancers	Fetal Intestine Small	intestine
6	chr12:7798800-7802400	Weak transcription	Small Intestine	intestine
7	chr12:7798800-7815200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:7799200-7799600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:7799200-7800000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:7799600-7800000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:7800400-7801600	Weak transcription	Fetal Intestine Small	intestine

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