Variant report

Variant	nsv983506
Chromosome Location	chr12:61196825-61207927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:61183373..61185053-chr12:61199472..61201484,2	K562	blood:

Extended variants
information (count: 484 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531518269	chr12:61196825-61196826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186486775	chr12:61196831-61196832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56109566	chr12:61196855-61196856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147862959	chr12:61196956-61196957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116846773	chr12:61196985-61196986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183795380	chr12:61197032-61197033	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188014098	chr12:61197033-61197034	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115167262	chr12:61197035-61197036	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536293470	chr12:61197042-61197043	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549766282	chr12:61197051-61197052	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149759084	chr12:61197065-61197066	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538986031	chr12:61197124-61197125	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146784924	chr12:61197248-61197249	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17124185	chr12:61197249-61197250	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192287220	chr12:61197266-61197267	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12301122	chr12:61197291-61197292	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573786074	chr12:61197320-61197321	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374350159	chr12:61197380-61197381	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539799133	chr12:61197613-61197614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182708700	chr12:61197614-61197615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561751220	chr12:61197618-61197619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566610562	chr12:61197689-61197690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11330396	chr12:61197701-61197702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569979922	chr12:61197717-61197718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572167147	chr12:61197723-61197724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539304454	chr12:61197730-61197731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552635271	chr12:61197759-61197760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7301607	chr12:61197775-61197776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577614425	chr12:61197784-61197785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548878069	chr12:61197789-61197790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573745840	chr12:61197803-61197804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536372700	chr12:61197924-61197925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186849471	chr12:61198005-61198006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143353692	chr12:61198006-61198007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376330222	chr12:61198011-61198012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545276686	chr12:61198060-61198061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565079998	chr12:61198069-61198070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148364887	chr12:61198120-61198121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540785212	chr12:61198247-61198248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569015186	chr12:61198287-61198288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368978297	chr12:61198302-61198303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141581819	chr12:61198323-61198324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530113067	chr12:61198335-61198336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538379239	chr12:61198337-61198338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543588561	chr12:61198404-61198405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563691701	chr12:61198456-61198457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4758883	chr12:61198551-61198552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs552547379	chr12:61198626-61198627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571713299	chr12:61198669-61198670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566340018	chr12:61198699-61198700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
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
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:61195800-61197000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:61197000-61197200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr12:61197000-61197400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:61197200-61197400	Enhancers	Stomach Smooth Muscle	stomach
5	chr12:61197600-61199000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:61199000-61199200	Enhancers	Stomach Smooth Muscle	stomach
7	chr12:61199000-61199600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:61199200-61199600	Enhancers	Colon Smooth Muscle	Colon
9	chr12:61199200-61199600	Active TSS	Stomach Smooth Muscle	stomach
10	chr12:61201200-61206200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:61206200-61206400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr12:61206200-61206400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:61206200-61206400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
18	chr12:61206200-61206400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
19	chr12:61206400-61213000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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