Variant report

Variant	esv3450703
Chromosome Location	chr12:67651785-67656783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67647986..67651907-chr12:67654023..67659120,6	K562	blood:
2	chr12:67655079..67657285-chr12:67662999..67665798,2	K562	blood:
3	chr12:67461930..67464015-chr12:67653908..67656790,2	MCF-7	breast:
4	chr12:67646762..67649274-chr12:67652316..67653916,2	MCF-7	breast:
5	chr12:67655079..67657081-chr12:67663033..67665904,3	K562	blood:
6	chr12:67652317..67654299-chr12:67658127..67660959,2	K562	blood:
7	chr12:67647986..67651907-chr12:67654023..67659120,6	K562	blood:
8	chr12:67645820..67647792-chr12:67656045..67658081,2	K562	blood:
9	chr12:67655772..67657475-chr12:67658776..67661766,2	K562	blood:
10	chr12:67647986..67650924-chr12:67656612..67659120,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIP1-8	chr12:67656109-67663060	NONHSAT029243

No data

Variant related genes	Relation type
ENSG00000237766	chromatin interactions
ENSG00000111530	chromatin interactions
ENSG00000256248	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193122951	chr12:67652326-67652327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540833881	chr12:67652344-67652345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559512149	chr12:67652360-67652361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140149235	chr12:67652398-67652399	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185605307	chr12:67652412-67652413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117476899	chr12:67652546-67652547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530797105	chr12:67652556-67652557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190133513	chr12:67652731-67652732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549701508	chr12:67652761-67652762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567832694	chr12:67652779-67652780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192129077	chr12:67652801-67652802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546837065	chr12:67652830-67652831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142254089	chr12:67652861-67652862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571376447	chr12:67652862-67652863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34232319	chr12:67652863-67652864	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146288921	chr12:67652864-67652865	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79193784	chr12:67652877-67652878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539284439	chr12:67652880-67652881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557873233	chr12:67652894-67652895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563251135	chr12:67652944-67652945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145707973	chr12:67652970-67652971	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536614991	chr12:67653022-67653023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147299116	chr12:67653067-67653068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573815784	chr12:67653104-67653105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535525325	chr12:67653136-67653137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541324535	chr12:67653274-67653275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559437538	chr12:67653298-67653299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577407142	chr12:67653314-67653315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544835529	chr12:67653315-67653316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60392230	chr12:67653354-67653355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563417753	chr12:67653375-67653376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140952199	chr12:67653461-67653462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549071323	chr12:67653464-67653465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574063328	chr12:67653479-67653480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528732974	chr12:67653483-67653484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184345506	chr12:67653524-67653525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572010216	chr12:67653594-67653595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2438109	chr12:67653617-67653618	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs2438108	chr12:67653625-67653626	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs188678482	chr12:67653626-67653627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs11503726	chr12:67653670-67653671	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574830114	chr12:67653703-67653704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112824681	chr12:67653729-67653730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567253797	chr12:67653738-67653739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35637684	chr12:67653760-67653761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs398019981	chr12:67653774-67653775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs58488417	chr12:67653775-67653776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs59163761	chr12:67653777-67653778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375909406	chr12:67653779-67653780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11504207	chr12:67653791-67653792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Lung adenocarcinoma	17982442	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No data

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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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