Variant report

Variant	esv3333286
Chromosome Location	chr12:34300670-34310512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:34306824-34306969	IMR90	lung:	n/a	n/a
2	CTCF	chr12:34304060-34304210	GM12873	blood:	n/a	n/a
3	CTCF	chr12:34300560-34300710	GM12873	blood:	n/a	n/a
4	CTCF	chr12:34300540-34300690	AoAF	blood vessel:	n/a	n/a
5	FOS	chr12:34300466-34300712	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr12:34304179-34304231	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:34307379-34307556	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:34304142-34304260	A549	lung:	n/a	n/a
9	POLR2A	chr12:34306450-34306529	A549	lung:	n/a	n/a
10	RFX5	chr12:34300511-34300733	GM12878	blood:	n/a	n/a
11	RFX5	chr12:34305062-34305077	K562	blood:	n/a	n/a
12	USF2	chr12:34300561-34300704	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10-2	chr12:34309116-34309255	ENSG00000255628
2	lnc-ALG10-2	chr12:34302774-34303105	ENSG00000255628

No data

Variant related genes	Relation type
ENSG00000256986	TF binding region
ENSG00000255628	TF binding region

Extended variants
information (count: 197 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76138113	chr12:34300676-34300677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs557985830	chr12:34300689-34300690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs78678973	chr12:34300690-34300691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs188514474	chr12:34300703-34300704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533927527	chr12:34300704-34300705	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs181461124	chr12:34300709-34300710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs555223836	chr12:34302785-34302786	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs149852109	chr12:34302799-34302800	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs369096839	chr12:34302803-34302804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs181656618	chr12:34302847-34302848	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs186235403	chr12:34302925-34302926	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs577419157	chr12:34302959-34302960	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs191017036	chr12:34302960-34302961	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs372342679	chr12:34302968-34302969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs558662825	chr12:34302973-34302974	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs553131985	chr12:34303044-34303045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs181925724	chr12:34303058-34303059	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs571082916	chr12:34304016-34304017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540007149	chr12:34304020-34304021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546842859	chr12:34304061-34304062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566975439	chr12:34304072-34304073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573004609	chr12:34304096-34304097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148252601	chr12:34304118-34304119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555385064	chr12:34304132-34304133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575233269	chr12:34304173-34304174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536979968	chr12:34304181-34304182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114696295	chr12:34304219-34304220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577030080	chr12:34304243-34304244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73096217	chr12:34304285-34304286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529906856	chr12:34304289-34304290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56295970	chr12:34304384-34304385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572904944	chr12:34304387-34304388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4931799	chr12:34304443-34304444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192316333	chr12:34304549-34304550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4244868	chr12:34304552-34304553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536120685	chr12:34304584-34304585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34018241	chr12:34304603-34304604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561712992	chr12:34304623-34304624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73313395	chr12:34304632-34304633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139719113	chr12:34304652-34304653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551328768	chr12:34304698-34304699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564783247	chr12:34304713-34304714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569992884	chr12:34304746-34304747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73096221	chr12:34304750-34304751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547172463	chr12:34304751-34304752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73096224	chr12:34304760-34304761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs377696755	chr12:34304783-34304784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184741344	chr12:34304789-34304790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74754534	chr12:34304876-34304877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369653348	chr12:34304877-34304878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34304000-34304400	Enhancers	Ovary	ovary
2	chr12:34304400-34308800	Weak transcription	Aorta	Aorta

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