Variant report

Variant	nsv826529
Chromosome Location	chr12:123045715-123046438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538870047	chr12:123045732-123045733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13377601	chr12:123045742-123045743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370065537	chr12:123045757-123045758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78280246	chr12:123045777-123045778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12828979	chr12:123045794-123045795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557141756	chr12:123045808-123045809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80031342	chr12:123045862-123045863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182079816	chr12:123045867-123045868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7302249	chr12:123045870-123045871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199545774	chr12:123045873-123045874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544402743	chr12:123045881-123045882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12809977	chr12:123045894-123045895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12809978	chr12:123045895-123045896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs36083097	chr12:123045916-123045917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535937270	chr12:123045932-123045933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143651637	chr12:123045936-123045937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187631741	chr12:123045943-123045944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190613218	chr12:123045970-123045971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565274251	chr12:123045987-123045988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148100208	chr12:123045994-123045995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534516690	chr12:123046005-123046006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115550133	chr12:123046071-123046072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530192484	chr12:123046076-123046077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549100730	chr12:123046093-123046094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567246115	chr12:123046098-123046099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371812886	chr12:123046100-123046101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112718067	chr12:123046111-123046112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571235439	chr12:123046116-123046117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180900930	chr12:123046150-123046151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556937114	chr12:123046190-123046191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186220536	chr12:123046243-123046244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536057143	chr12:123046247-123046248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140979643	chr12:123046248-123046249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572988602	chr12:123046276-123046277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555938692	chr12:123046277-123046278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56877053	chr12:123046281-123046282	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7306645	chr12:123046311-123046312	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs190052116	chr12:123046349-123046350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563028697	chr12:123046381-123046382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576063938	chr12:123046382-123046383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530363908	chr12:123046383-123046384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376478813	chr12:123046424-123046425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370561211	chr12:123046430-123046431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123066000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
4	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
5	chr12:123012600-123066200	Weak transcription	Psoas Muscle	Psoas
6	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:123012800-123065800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:123013000-123076400	Weak transcription	Right Ventricle	heart
11	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:123013200-123045800	Strong transcription	Fetal Thymus	thymus
13	chr12:123013200-123050000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:123013400-123080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
18	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:123013800-123050000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:123014400-123084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:123014600-123085400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:123015400-123079800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:123015600-123115000	Strong transcription	Dnd41	blood
24	chr12:123018600-123049600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr12:123022200-123084600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:123022600-123113800	Weak transcription	Colonic Mucosa	Colon
27	chr12:123025400-123049800	Strong transcription	A549	lung
28	chr12:123026000-123076400	Weak transcription	Gastric	stomach
29	chr12:123026000-123081000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:123028600-123064400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:123029200-123085000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:123029200-123107600	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:123029800-123052800	Strong transcription	Fetal Stomach	stomach
34	chr12:123032200-123054400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:123032400-123058000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:123032600-123095400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:123033400-123067000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:123036400-123074200	Weak transcription	Fetal Brain Male	brain
39	chr12:123037200-123058000	Weak transcription	Left Ventricle	heart
40	chr12:123037200-123113000	Weak transcription	Brain Anterior Caudate	brain
41	chr12:123037600-123057400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:123037600-123095400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:123037800-123100600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:123038000-123059000	Weak transcription	Lung	lung
45	chr12:123038200-123053800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:123038400-123052800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:123038400-123058000	Weak transcription	Spleen	Spleen
48	chr12:123038400-123058800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:123038400-123060000	Weak transcription	Fetal Kidney	kidney
50	chr12:123038400-123066200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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