Variant report

Variant	nsv1043417
Chromosome Location	chr12:119983575-119994406
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	chr12:119881569..119882932-chr12:119981933..119983576,24	MCF-7	breast:
2	chr12:119992598..119995393-chr12:120116736..120118887,2	K562	blood:

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

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

Extended variants
information (count: 397 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554310850	chr12:119984409-119984410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189336192	chr12:119984418-119984419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570324350	chr12:119984465-119984466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540140694	chr12:119984520-119984521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76293050	chr12:119984569-119984570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563548674	chr12:119984579-119984580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371451748	chr12:119984588-119984589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552542717	chr12:119984681-119984682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78675576	chr12:119984728-119984729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192252520	chr12:119984748-119984749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184360245	chr12:119984764-119984765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188714873	chr12:119984765-119984766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536819279	chr12:119984780-119984781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556360725	chr12:119984786-119984787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569942904	chr12:119984836-119984837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117127357	chr12:119984855-119984856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534410316	chr12:119984856-119984857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140294854	chr12:119984859-119984860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558870316	chr12:119984876-119984877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572359678	chr12:119984887-119984888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534718232	chr12:119985071-119985072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555014862	chr12:119985093-119985094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145207179	chr12:119985131-119985132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543964822	chr12:119985259-119985260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201293619	chr12:119985260-119985261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563460575	chr12:119985263-119985264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1178825	chr12:119985267-119985268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2695507	chr12:119985303-119985304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111775355	chr12:119985311-119985312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75691438	chr12:119985315-119985316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11064826	chr12:119985319-119985320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61938144	chr12:119985323-119985324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10774501	chr12:119985327-119985328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61090005	chr12:119985334-119985335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2519545	chr12:119985335-119985336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28415250	chr12:119985347-119985348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11064827	chr12:119985355-119985356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74622795	chr12:119985360-119985361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28393271	chr12:119985363-119985364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11064828	chr12:119985400-119985401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370295403	chr12:119985407-119985408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs809226	chr12:119985419-119985420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72330053	chr12:119985431-119985432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560116378	chr12:119985434-119985435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147536223	chr12:119985442-119985443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75252027	chr12:119985445-119985446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144667158	chr12:119985460-119985461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569912296	chr12:119985461-119985462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs804446	chr12:119985547-119985548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148517039	chr12:119985560-119985561	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119984400-119985600	Enhancers	HSMM	muscle
2	chr12:119984600-119984800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr12:119985200-119985400	Enhancers	HSMMtube	muscle
4	chr12:119985600-119987800	Weak transcription	HSMMtube	muscle
5	chr12:119986800-119989200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:119988400-119991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:119990800-119991800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:119991200-119993000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:119991400-119993000	Enhancers	Ovary	ovary
10	chr12:119992000-119993600	Enhancers	K562	blood

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