Variant report

Variant	nsv1053798
Chromosome Location	chr12:2214047-2253488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:2248506..2250279-chr12:2263999..2266926,2	MCF-7	breast:
2	chr12:2220570..2222962-chr12:2225663..2228502,2	MCF-7	breast:
3	chr12:2253016..2255096-chr12:2269264..2272000,2	MCF-7	breast:
4	chr12:2220570..2222962-chr12:2225663..2228502,2	MCF-7	breast:
5	chr11:85960754..85963363-chr12:2217354..2219874,2	MCF-7	breast:
6	chr12:2166299..2167006-chr12:2226935..2227452,2	MCF-7	breast:

Extended variants
information (count: 1617 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1617 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185946986	chr12:2214067-2214068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575769540	chr12:2214071-2214072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111257924	chr12:2214086-2214087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145351444	chr12:2214096-2214097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190707429	chr12:2214114-2214115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561297069	chr12:2214124-2214125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534837783	chr12:2214126-2214127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555125783	chr12:2214173-2214174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74585914	chr12:2214185-2214186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537707485	chr12:2214190-2214191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs118040637	chr12:2214191-2214192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3794301	chr12:2214196-2214197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146901304	chr12:2214201-2214202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564768496	chr12:2214218-2214219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545007748	chr12:2214228-2214229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147969074	chr12:2214268-2214269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183274604	chr12:2214300-2214301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187942578	chr12:2214312-2214313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370037852	chr12:2214345-2214346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561103310	chr12:2214374-2214375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141938946	chr12:2214378-2214379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549618022	chr12:2214482-2214483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12580311	chr12:2214483-2214484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563237373	chr12:2214506-2214507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190698227	chr12:2214526-2214527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552526194	chr12:2214533-2214534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182992298	chr12:2214534-2214535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145804073	chr12:2214588-2214589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187851718	chr12:2214608-2214609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539315599	chr12:2214626-2214627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568631822	chr12:2214636-2214637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7978876	chr12:2214692-2214693	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557636214	chr12:2214694-2214695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577605015	chr12:2214717-2214718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192959200	chr12:2214718-2214719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112046519	chr12:2214725-2214726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368697778	chr12:2214727-2214728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373851847	chr12:2214731-2214732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541080482	chr12:2214776-2214777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7307160	chr12:2214793-2214794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568579472	chr12:2214824-2214825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369534324	chr12:2214825-2214826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7954323	chr12:2214832-2214833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201353075	chr12:2214846-2214847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560821559	chr12:2214849-2214850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71441840	chr12:2214881-2214882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55740629	chr12:2214882-2214883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55983937	chr12:2214885-2214886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574236928	chr12:2214890-2214891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71454865	chr12:2214914-2214915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2202800-2220200	Weak transcription	Fetal Brain Female	brain
2	chr12:2207200-2214200	Weak transcription	Right Atrium	heart
3	chr12:2207200-2223000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:2208400-2226600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:2208600-2217000	Weak transcription	Aorta	Aorta
6	chr12:2209000-2215400	Weak transcription	Fetal Heart	heart
7	chr12:2211000-2214200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:2211000-2214200	Weak transcription	Left Ventricle	heart
9	chr12:2211200-2221000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:2211400-2214200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:2211600-2217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:2211600-2222200	Weak transcription	Spleen	Spleen
13	chr12:2211800-2217200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:2211800-2229000	Weak transcription	Osteobl	bone
15	chr12:2213800-2214400	Enhancers	Colon Smooth Muscle	Colon
16	chr12:2213800-2214400	Enhancers	Rectal Smooth Muscle	rectum
17	chr12:2213800-2214800	Enhancers	Right Ventricle	heart
18	chr12:2214000-2214400	Enhancers	Lung	lung
19	chr12:2214200-2214600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:2214200-2214600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr12:2214200-2214800	Enhancers	Left Ventricle	heart
22	chr12:2214200-2214800	Enhancers	Right Atrium	heart
23	chr12:2214400-2216800	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:2214400-2216800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:2214400-2219400	Weak transcription	Lung	lung
26	chr12:2214600-2217000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:2214600-2221000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:2214800-2216200	Weak transcription	Left Ventricle	heart
29	chr12:2214800-2217000	Weak transcription	Right Atrium	heart
30	chr12:2214800-2217200	Weak transcription	Right Ventricle	heart
31	chr12:2215400-2215800	Enhancers	Fetal Heart	heart
32	chr12:2215800-2216800	Weak transcription	Fetal Heart	heart
33	chr12:2216200-2216400	Enhancers	Left Ventricle	heart
34	chr12:2216400-2216800	Weak transcription	Left Ventricle	heart
35	chr12:2216800-2217200	Enhancers	Rectal Smooth Muscle	rectum
36	chr12:2216800-2222600	Enhancers	Colon Smooth Muscle	Colon
37	chr12:2216800-2223600	Enhancers	Fetal Heart	heart
38	chr12:2216800-2224400	Enhancers	Left Ventricle	heart
39	chr12:2217000-2217400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr12:2217000-2217600	Enhancers	Right Atrium	heart
41	chr12:2217000-2217800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:2217000-2218000	Enhancers	Aorta	Aorta
43	chr12:2217200-2218400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:2217200-2218600	Enhancers	Fetal Intestine Large	intestine
45	chr12:2217200-2222400	Enhancers	Stomach Smooth Muscle	stomach
46	chr12:2217200-2224200	Enhancers	Right Ventricle	heart
47	chr12:2217400-2217600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr12:2217400-2218400	Bivalent Enhancer	Fetal Stomach	stomach
49	chr12:2217400-2219800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:2217600-2217800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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