Variant report

Variant	esv3350182
Chromosome Location	chr8:95601526-95604924
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	ARID3A	chr8:95604606-95604827	HepG2	liver:	n/a	n/a
2	CTCF	chr8:95604620-95604770	A549	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
3	CTCF	chr8:95604660-95604810	HCT-116	colon:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
4	CTCF	chr8:95604600-95604750	HVMF	connective:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
5	CTCF	chr8:95604921-95605019	GM10248	blood:	n/a	n/a
6	CTCF	chr8:95604652-95604769	MCF-7	breast:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
7	CTCF	chr8:95604614-95604805	Medullo	brain:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
8	CTCF	chr8:95604600-95604750	GM12869	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
9	CTCF	chr8:95604640-95604790	AG10803	skin:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
10	CTCF	chr8:95604518-95604914	GM12878	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
11	CTCF	chr8:95604640-95604790	HMF	breast:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
12	CTCF	chr8:95604900-95605050	AG04449	skin:	n/a	n/a
13	CTCF	chr8:95604615-95604816	Kidney_OC	kidney:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
14	CTCF	chr8:95604592-95604855	K562	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
15	CTCF	chr8:95604589-95604884	H1-hESC	embryonic stem cell:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
16	CTCF	chr8:95604640-95604790	GM12864	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
17	CTCF	chr8:95604640-95604790	GM12867	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
18	CTCF	chr8:95604580-95604730	WI-38	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
19	CTCF	chr8:95604640-95604790	AG04450	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
20	CTCF	chr8:95604620-95604770	HFF-Myc	foreskin:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
21	CTCF	chr8:95604920-95605070	HMF	breast:	n/a	n/a
22	CTCF	chr8:95604578-95605080	SK-N-SH	brain:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
23	CTCF	chr8:95604620-95604770	HVMF	connective:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
24	CTCF	chr8:95604660-95604810	BJ	skin:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
25	CTCF	chr8:95604640-95604790	AG04449	skin:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
26	CTCF	chr8:95604660-95604810	GM06990	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
27	CTCF	chr8:95604513-95605048	MCF-7	breast:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
28	CTCF	chr8:95604596-95604883	A549	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
29	CTCF	chr8:95604616-95604867	ECC-1	luminal epithelium:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
30	CTCF	chr8:95604660-95604810	RPTEC	kidney:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
31	CTCF	chr8:95604640-95604790	BJ	skin:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
32	CTCF	chr8:95604640-95604790	AG09309	skin:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
33	CTCF	chr8:95604620-95604770	Hela-S3	cervix:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
34	CTCF	chr8:95604900-95605050	WI-38	lung:	n/a	n/a
35	CTCF	chr8:95604601-95604829	GM13977	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
36	CTCF	chr8:95604620-95604770	HCM	heart:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
37	CTCF	chr8:95604640-95604790	HRE	kidney:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
38	CTCF	chr8:95604577-95604870	A549	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
39	CTCF	chr8:95604618-95604825	GM19238	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
40	CTCF	chr8:95604509-95605181	HCT-116	colon:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
41	CTCF	chr8:95604626-95604804	GM12892	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
42	CTCF	chr8:95604620-95604770	GM12873	blood:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
43	CTCF	chr8:95604680-95604830	RPTEC	kidney:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
44	CTCF	chr8:95604620-95604770	HEEpiC	esophagus:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
45	CTCF	chr8:95604525-95604928	HepG2	liver:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
46	CTCF	chr8:95604615-95604756	SK-N-SH_RA	brain:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
47	CTCF	chr8:95604640-95604790	HMEC	breast:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
48	CTCF	chr8:95604630-95604818	Lung_OC	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
49	CTCF	chr8:95604640-95604790	HepG2	liver:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723
50	CTCF	chr8:95604612-95604859	A549	lung:	n/a	chr8:95604707-95604725 chr8:95604710-95604719 chr8:95604709-95604730 chr8:95604708-95604724 chr8:95604712-95604722 chr8:95604710-95604723

No.	Distal block	Cell Line	Cell type
1	chr8:95604279..95604876-chr8:95624972..95625755,2	MCF-7	breast:
2	chr8:95604246..95605617-chr8:95725348..95726635,8	MCF-7	breast:
3	chr8:95604280..95605218-chr8:95654234..95655141,4	MCF-7	breast:
4	chr8:95603445..95604962-chr8:95650191..95651732,2	MCF-7	breast:
5	chr8:95604274..95605200-chr8:95725698..95726286,2	MCF-7	breast:
6	chr8:95604766..95607186-chr8:95653718..95656477,2	MCF-7	breast:
7	chr8:95603957..95608238-chr8:95651708..95655027,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254283	TF binding region
ENSG00000254190	TF binding region
ENSG00000104413	chromatin interactions
ENSG00000199701	chromatin interactions
ENSG00000261437	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567687207	chr8:95601690-95601691	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs536625190	chr8:95601753-95601754	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs556183117	chr8:95601775-95601776	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs4735300	chr8:95601843-95601844	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs545258950	chr8:95601844-95601845	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs558830885	chr8:95601881-95601882	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs112552771	chr8:95601920-95601921	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs554204488	chr8:95603792-95603793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575308543	chr8:95603829-95603830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113491658	chr8:95603850-95603851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547302220	chr8:95603927-95603928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377334390	chr8:95603957-95603958	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567743797	chr8:95603958-95603959	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536385733	chr8:95603959-95603960	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs12335146	chr8:95603994-95603995	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs9773485	chr8:95604020-95604021	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs9771929	chr8:95604047-95604048	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556250783	chr8:95604048-95604049	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372994063	chr8:95604065-95604066	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs12335147	chr8:95604066-95604067	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs10429382	chr8:95604070-95604071	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112712997	chr8:95604077-95604078	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs538672471	chr8:95604100-95604101	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs9772288	chr8:95604120-95604121	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12334602	chr8:95604131-95604132	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs9772297	chr8:95604192-95604193	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs559172191	chr8:95604195-95604196	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs572685849	chr8:95604197-95604198	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs541592937	chr8:95604199-95604200	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs10956920	chr8:95604203-95604204	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs568079155	chr8:95604272-95604273	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs370472938	chr8:95604363-95604364	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs573671852	chr8:95604393-95604394	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs575728549	chr8:95604506-95604507	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs371837556	chr8:95604553-95604554	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs562592247	chr8:95604555-95604556	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs531297726	chr8:95604556-95604557	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs12381508	chr8:95604580-95604581	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs66812248	chr8:95604591-95604592	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs66673797	chr8:95604592-95604593	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs201472897	chr8:95604593-95604594	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs376036722	chr8:95604594-95604595	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs545055853	chr8:95604595-95604596	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs67232391	chr8:95604627-95604628	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs565162616	chr8:95604660-95604661	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs6984001	chr8:95604669-95604670	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142002076	chr8:95604717-95604718	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs192207952	chr8:95604730-95604731	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs1895875	chr8:95604739-95604740	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546161856	chr8:95604801-95604802	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

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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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