Variant report

Variant	esv3342690
Chromosome Location	chr12:22158911-22164098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:22162504-22162854	K562	blood:	n/a	n/a
2	CBX3	chr12:22162566-22162746	K562	blood:	n/a	n/a
3	CTCF	chr12:22161869-22161952	GM20000	blood:	n/a	n/a
4	CTCF	chr12:22161470-22161532	Lung_OC	lung:	n/a	n/a
5	PAX5	chr12:22161210-22161379	GM12892	blood:	n/a	chr12:22161354-22161372 chr12:22161356-22161373
6	POLR2A	chr12:22162050-22162099	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:22159681-22159875	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr12:22161300-22161345	A549	lung:	n/a	n/a
9	POLR2A	chr12:22159261-22159302	A549	lung:	n/a	n/a
10	STAT3	chr12:22163958-22164000	MCF10A-Er-Src	breast:	n/a	n/a
11	ZNF384	chr12:22162561-22162694	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CMAS-2	chr12:22161282-22161814	NONHSAT027262

Variant related genes	Relation type
ENSG00000255627	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189764015	chr12:22159261-22159262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs200987641	chr12:22159269-22159270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs543384128	chr12:22159289-22159290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs79540110	chr12:22159700-22159701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs527837616	chr12:22159783-22159784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547682483	chr12:22159815-22159816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs541344306	chr12:22161253-22161254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs564452246	chr12:22161254-22161255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs533320754	chr12:22161258-22161259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs577834522	chr12:22161275-22161276	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs76421238	chr12:22161285-22161286	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs114862846	chr12:22161299-22161300	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs528973290	chr12:22161300-22161301	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs549111072	chr12:22161301-22161302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs565519781	chr12:22161309-22161310	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs112705099	chr12:22161327-22161328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs10743432	chr12:22161332-22161333	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147488449	chr12:22161333-22161334	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs2955514	chr12:22161362-22161363	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs10770876	chr12:22161365-22161366	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557181756	chr12:22161367-22161368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs567499376	chr12:22161368-22161369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs7961937	chr12:22161409-22161410	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555862007	chr12:22161444-22161445	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs188257062	chr12:22161469-22161470	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs112213805	chr12:22161482-22161483	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs79824647	chr12:22161488-22161489	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs192285543	chr12:22161524-22161525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs528197866	chr12:22161544-22161545	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs117601513	chr12:22161545-22161546	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs185882160	chr12:22161560-22161561	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs190408783	chr12:22161564-22161565	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs529521797	chr12:22161570-22161571	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs565025276	chr12:22161574-22161575	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs182235612	chr12:22161605-22161606	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs61737902	chr12:22161614-22161615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs528047632	chr12:22161634-22161635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs551401916	chr12:22161642-22161643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs371205247	chr12:22161670-22161671	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs61737698	chr12:22161685-22161686	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142929758	chr12:22161742-22161743	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs567333512	chr12:22161754-22161755	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs536459509	chr12:22161791-22161792	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs55749365	chr12:22161792-22161793	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs186155655	chr12:22161800-22161801	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	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	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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