Variant report

Variant	nsv1042971
Chromosome Location	chr12:42170661-42205843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 685 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:685 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7979404	chr12:42170661-42170662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554414111	chr12:42170665-42170666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7966474	chr12:42170687-42170688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144796098	chr12:42170690-42170691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4595606	chr12:42170693-42170694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1542828	chr12:42170773-42170774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575915572	chr12:42170784-42170785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560738869	chr12:42170832-42170833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528316228	chr12:42170845-42170846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187461307	chr12:42170873-42170874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546265383	chr12:42170889-42170890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368123322	chr12:42170915-42170916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189911972	chr12:42170940-42170941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115831544	chr12:42170946-42170947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183296469	chr12:42170964-42170965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550753738	chr12:42170993-42170994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116230818	chr12:42171027-42171028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555345118	chr12:42171036-42171037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570048402	chr12:42171057-42171058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4768007	chr12:42171062-42171063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534423123	chr12:42171080-42171081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2173164	chr12:42171099-42171100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559079606	chr12:42171107-42171108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61939354	chr12:42171128-42171129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537803818	chr12:42171133-42171134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373853077	chr12:42171148-42171149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576540914	chr12:42171159-42171160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574781253	chr12:42171212-42171213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141856374	chr12:42171267-42171268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146298801	chr12:42171282-42171283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572683315	chr12:42171308-42171309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139276986	chr12:42171324-42171325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs904078	chr12:42171325-42171326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532239666	chr12:42171336-42171337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550267923	chr12:42171345-42171346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562497667	chr12:42171358-42171359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529764377	chr12:42171403-42171404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548878810	chr12:42171409-42171410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567206315	chr12:42171425-42171426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61565917	chr12:42171426-42171427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552761191	chr12:42171429-42171430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187561526	chr12:42171444-42171445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77406704	chr12:42171489-42171490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192804042	chr12:42171498-42171499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559119459	chr12:42171562-42171563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574753425	chr12:42171571-42171572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535488229	chr12:42171577-42171578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574945943	chr12:42171592-42171593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77486573	chr12:42171610-42171611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77514335	chr12:42171679-42171680	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42170400-42171600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:42170400-42173800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:42170800-42171200	Enhancers	HUVEC	blood vessel
4	chr12:42184800-42185200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:42187000-42188200	Enhancers	Brain Germinal Matrix	brain
6	chr12:42187600-42188200	Enhancers	HUVEC	blood vessel
7	chr12:42187600-42188800	Enhancers	Fetal Lung	lung
8	chr12:42187600-42189600	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:42187600-42189800	Enhancers	Fetal Brain Male	brain
10	chr12:42188000-42188400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:42188000-42190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:42188000-42190600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:42188200-42188600	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr12:42188200-42188800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:42188200-42188800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:42188200-42189000	Enhancers	Fetal Brain Female	brain
17	chr12:42188200-42189200	Enhancers	Brain Hippocampus Middle	brain
18	chr12:42188200-42189200	Flanking Active TSS	HUVEC	blood vessel
19	chr12:42188200-42189400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:42188200-42190000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:42188200-42190200	Enhancers	Fetal Stomach	stomach
22	chr12:42188400-42188600	Enhancers	NH-A	brain
23	chr12:42188400-42189200	Enhancers	Fetal Kidney	kidney
24	chr12:42188400-42189400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:42188600-42189000	Enhancers	Brain Anterior Caudate	brain
26	chr12:42188600-42189200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:42188600-42189800	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:42188600-42192600	Enhancers	Brain Germinal Matrix	brain
29	chr12:42188800-42189200	Enhancers	Adipose Nuclei	Adipose
30	chr12:42188800-42189200	Flanking Active TSS	Fetal Lung	lung
31	chr12:42188800-42189200	Enhancers	Psoas Muscle	Psoas
32	chr12:42188800-42189600	Enhancers	Fetal Muscle Leg	muscle
33	chr12:42189000-42189400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr12:42189000-42189400	Flanking Active TSS	Fetal Brain Female	brain
35	chr12:42189200-42189400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:42189200-42189400	Enhancers	Aorta	Aorta
37	chr12:42189200-42189400	Enhancers	NH-A	brain
38	chr12:42189200-42190000	Enhancers	Fetal Lung	lung
39	chr12:42189200-42190200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:42189200-42190200	Enhancers	HUVEC	blood vessel
41	chr12:42189200-42196600	Weak transcription	Psoas Muscle	Psoas
42	chr12:42189400-42190200	Enhancers	Fetal Brain Female	brain
43	chr12:42190000-42190200	Enhancers	Aorta	Aorta
44	chr12:42190000-42196600	Weak transcription	Fetal Lung	lung
45	chr12:42191400-42191600	Bivalent Enhancer	Fetal Brain Male	brain
46	chr12:42194400-42194600	Enhancers	Brain Germinal Matrix	brain
47	chr12:42194600-42195600	Weak transcription	Brain Germinal Matrix	brain
48	chr12:42195600-42197000	Enhancers	Brain Germinal Matrix	brain
49	chr12:42195800-42197000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr12:42196600-42196800	Enhancers	Psoas Muscle	Psoas

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