Variant report

Variant	esv3390284
Chromosome Location	chr12:9180798-9182109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376733252	chr12:9180817-9180818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189493259	chr12:9180850-9180851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193002395	chr12:9180865-9180866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112825737	chr12:9180893-9180894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534220154	chr12:9180896-9180897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185763977	chr12:9180910-9180911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553112242	chr12:9180938-9180939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188928483	chr12:9180961-9180962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147865866	chr12:9181031-9181032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113573750	chr12:9181046-9181047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71045236	chr12:9181057-9181058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141861414	chr12:9181141-9181142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375288626	chr12:9181149-9181150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554205440	chr12:9181169-9181170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181703055	chr12:9181259-9181260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567963001	chr12:9181328-9181329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1805709	chr12:9181395-9181396	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145360713	chr12:9181414-9181415	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573292629	chr12:9181471-9181472	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1805708	chr12:9181477-9181478	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556731730	chr12:9181478-9181479	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545477707	chr12:9181570-9181571	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559040769	chr12:9181651-9181652	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1805707	chr12:9181706-9181707	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188869501	chr12:9181788-9181789	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180866583	chr12:9181811-9181812	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114637738	chr12:9181812-9181813	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527332582	chr12:9181844-9181845	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113422655	chr12:9181900-9181901	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112023810	chr12:9181914-9181915	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111850243	chr12:9181921-9181922	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185803329	chr12:9182034-9182035	Weak transcription Genic enhancers Enhancers	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
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9165800-9182400	Weak transcription	Adipose Nuclei	Adipose
2	chr12:9174400-9181800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:9174800-9185800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:9175200-9185800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:9176600-9182800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:9177600-9181600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:9178400-9181800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:9178400-9185000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:9178800-9181400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:9178800-9184400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:9180200-9180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:9180400-9181400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:9180400-9181800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:9180400-9181800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:9180400-9183000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:9180400-9183400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:9180600-9181800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:9180600-9182600	Weak transcription	Esophagus	oesophagus
20	chr12:9180600-9183200	Weak transcription	Primary T cells from cord blood	blood
21	chr12:9180600-9184200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:9180600-9185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:9181400-9184400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:9181400-9184800	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr12:9181600-9182600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:9181800-9182200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:9181800-9182800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:9181800-9183000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:9181800-9183000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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