Variant report

Variant	esv15230
Chromosome Location	chr12:123139888-123142070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KNTC1-3	chr12:123141653-123141802	NONHSAT031525
2	lnc-KNTC1-3	chr12:123140235-123140280	l_749_chr12:123140234-123165633_testes
3	lnc-KNTC1-3	chr12:123141072-123141805	l_749_chr12:123140234-123165633_testes

Extended variants
information (count: 80 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542075742	chr12:123139923-123139924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560544041	chr12:123139930-123139931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527866352	chr12:123139942-123139943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539990252	chr12:123139971-123139972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377189458	chr12:123139986-123139987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113742173	chr12:123140073-123140074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75594663	chr12:123140075-123140076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554665711	chr12:123140076-123140077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78866035	chr12:123140079-123140080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564985604	chr12:123140148-123140149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532192127	chr12:123140202-123140203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550598749	chr12:123140289-123140290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549575159	chr12:123140330-123140331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568831887	chr12:123140331-123140332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530033152	chr12:123140358-123140359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548474806	chr12:123140367-123140368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566577627	chr12:123140369-123140370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184459287	chr12:123140399-123140400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558825286	chr12:123140405-123140406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73224188	chr12:123140411-123140412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537899488	chr12:123140415-123140416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556146290	chr12:123140455-123140456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574455896	chr12:123140498-123140499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542146953	chr12:123140513-123140514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200240867	chr12:123140541-123140542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs644989	chr12:123140565-123140566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374974146	chr12:123140566-123140567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs645348	chr12:123140597-123140598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190187002	chr12:123140598-123140599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577021825	chr12:123140599-123140600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193241267	chr12:123140639-123140640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185583857	chr12:123140642-123140643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372819579	chr12:123140670-123140671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553268655	chr12:123140678-123140679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529690839	chr12:123140704-123140705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548222103	chr12:123140706-123140707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560385604	chr12:123140754-123140755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386767114	chr12:123140781-123140782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77331130	chr12:123140819-123140820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552348710	chr12:123140869-123140870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570510619	chr12:123140894-123140895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574775433	chr12:123140985-123140986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537963253	chr12:123141001-123141002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141264360	chr12:123141006-123141007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568152606	chr12:123141015-123141016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376304073	chr12:123141021-123141022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554218092	chr12:123141070-123141071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1476292	chr12:123141074-123141075	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs150360996	chr12:123141111-123141112	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs539704795	chr12:123141117-123141118	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123120200-123140800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:123128200-123147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123135600-123141000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:123135800-123141000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:123135800-123141200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:123135800-123152800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:123136600-123140800	Weak transcription	NHEK	skin
8	chr12:123136600-123154200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:123140800-123141400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:123140800-123141600	Enhancers	GM12878-XiMat	blood
11	chr12:123140800-123141600	Enhancers	NHEK	skin
12	chr12:123140800-123153800	Weak transcription	A549	lung
13	chr12:123141000-123141400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:123141000-123141600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:123141200-123141600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:123141400-123143800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:123141600-123142200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:123141600-123143800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:123141600-123144200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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