Variant report

Variant	nsv1040654
Chromosome Location	chr12:119990608-120001334
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	chr12:119992598..119995393-chr12:120116736..120118887,2	K562	blood:
2	chr12:119998389..120000299-chr12:120029371..120031363,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CIT-1	chr12:119991363-119991450	NONHSAT031083
2	lnc-CIT-1	chr12:119991353-119991450	ENSG00000248636
3	lnc-CIT-1	chr12:119991353-119991450	ENSG00000248636

Variant related genes	Relation type
ENSG00000224982	chromatin interactions
ENSG00000111725	chromatin interactions
ZCCHC11	miRNA target sites

Extended variants
information (count: 302 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147775507	chr12:119990689-119990690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556488937	chr12:119990697-119990698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575982437	chr12:119990717-119990718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569901999	chr12:119990739-119990740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531139931	chr12:119990825-119990826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193076547	chr12:119990880-119990881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558976592	chr12:119990885-119990886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572427075	chr12:119990902-119990903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541547776	chr12:119990918-119990919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184832604	chr12:119990936-119990937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200853772	chr12:119990950-119990951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34013674	chr12:119990951-119990952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574731852	chr12:119990961-119990962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552558039	chr12:119991010-119991011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563583249	chr12:119991052-119991053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532108263	chr12:119991095-119991096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561940523	chr12:119991108-119991109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572315031	chr12:119991139-119991140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551905435	chr12:119991266-119991267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540856303	chr12:119991297-119991298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559331218	chr12:119991303-119991304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs708893	chr12:119991312-119991313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs78251797	chr12:119991380-119991381	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs532886165	chr12:119991417-119991418	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs567518752	chr12:119991430-119991431	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs536452260	chr12:119991468-119991469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189727193	chr12:119991473-119991474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570030503	chr12:119991478-119991479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180862204	chr12:119991501-119991502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553326954	chr12:119991516-119991517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79457237	chr12:119991534-119991535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572443768	chr12:119991539-119991540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534803936	chr12:119991540-119991541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78753513	chr12:119991552-119991553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557220601	chr12:119991556-119991557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142610040	chr12:119991607-119991608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543655985	chr12:119991676-119991677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557261453	chr12:119991679-119991680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117664175	chr12:119991726-119991727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146913728	chr12:119991761-119991762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11064832	chr12:119991777-119991778	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533776643	chr12:119991789-119991790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183480140	chr12:119991791-119991792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541515899	chr12:119991831-119991832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561457971	chr12:119991856-119991857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546135300	chr12:119991865-119991866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56329590	chr12:119991882-119991883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188105980	chr12:119991902-119991903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569949024	chr12:119991904-119991905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532685218	chr12:119991905-119991906	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Autism	22495311	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
Sudden cardiac death	19188705	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119988400-119991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:119990800-119991800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:119991200-119993000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:119991400-119993000	Enhancers	Ovary	ovary
5	chr12:119992000-119993600	Enhancers	K562	blood
6	chr12:119996000-119996400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:119996000-119997400	Enhancers	HSMM	muscle
8	chr12:119998600-119999000	Enhancers	Dnd41	blood

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