Variant report

Variant	esv2760699
Chromosome Location	chr12:119988887-119994518
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:

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
ENSG00000111725	chromatin interactions
ZCCHC11	miRNA target sites

Extended variants
information (count: 222 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61441680	chr12:119988916-119988917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560528008	chr12:119988931-119988932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11064831	chr12:119988953-119988954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs542662252	chr12:119988957-119988958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111681124	chr12:119988965-119988966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374359138	chr12:119989020-119989021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78910999	chr12:119989057-119989058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80110154	chr12:119989071-119989072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571383596	chr12:119989129-119989130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139253174	chr12:119989138-119989139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547417259	chr12:119989166-119989167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567251822	chr12:119989226-119989227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532982346	chr12:119989250-119989251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190846505	chr12:119989258-119989259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115159326	chr12:119989270-119989271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115868410	chr12:119989273-119989274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538765801	chr12:119989341-119989342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558367873	chr12:119989354-119989355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549518417	chr12:119989364-119989365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149550689	chr12:119989371-119989372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149435670	chr12:119989395-119989396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375375647	chr12:119989396-119989397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540916915	chr12:119989408-119989409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182706762	chr12:119989416-119989417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529293262	chr12:119989568-119989569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112510577	chr12:119989606-119989607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7137869	chr12:119989646-119989647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
28	rs144240104	chr12:119989709-119989710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139954579	chr12:119989760-119989761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531674856	chr12:119989772-119989773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545134184	chr12:119989773-119989774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565082717	chr12:119989829-119989830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527540749	chr12:119989840-119989841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575644788	chr12:119989861-119989862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11838005	chr12:119989862-119989863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs80320150	chr12:119989870-119989871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187909943	chr12:119989899-119989900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549781644	chr12:119989902-119989903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146720212	chr12:119989968-119989969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139338224	chr12:119989974-119989975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142557234	chr12:119989978-119989979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192384765	chr12:119990004-119990005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534136870	chr12:119990031-119990032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7972859	chr12:119990045-119990046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184901877	chr12:119990050-119990051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542945920	chr12:119990067-119990068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150969533	chr12:119990102-119990103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367562770	chr12:119990128-119990129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576071205	chr12:119990147-119990148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545097339	chr12:119990171-119990172	Weak transcription	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119986800-119989200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:119988400-119991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:119990800-119991800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:119991200-119993000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:119991400-119993000	Enhancers	Ovary	ovary
6	chr12:119992000-119993600	Enhancers	K562	blood

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