Variant report

Variant	esv18491
Chromosome Location	chr12:104283731-104287745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:104283461-104283768	GM12891	blood:	n/a	n/a
2	SPI1	chr12:104283489-104283788	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104277028..104280742-chr12:104283520..104285730,3	K562	blood:
2	chr12:104272930..104275342-chr12:104282013..104284611,2	K562	blood:
3	chr12:104275747..104278016-chr12:104287322..104289959,2	K562	blood:
4	chr12:104277824..104279928-chr12:104282058..104285020,2	K562	blood:
5	chr12:104282070..104284528-chr12:104287528..104289517,2	K562	blood:
6	chr12:104282070..104284528-chr12:104287528..104289517,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000214198	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:185 , 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	rs3850017	chr12:104283747-104283748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78942277	chr12:104283773-104283774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373531358	chr12:104283809-104283810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149735703	chr12:104283815-104283816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369392749	chr12:104283818-104283819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535451786	chr12:104283842-104283843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553990205	chr12:104283861-104283862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567976230	chr12:104283921-104283922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181416802	chr12:104283940-104283941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553904699	chr12:104283941-104283942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567820930	chr12:104283976-104283977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570533985	chr12:104284014-104284015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539554228	chr12:104284044-104284045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114124116	chr12:104284049-104284050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73386176	chr12:104284062-104284063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs3036240	chr12:104284080-104284081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397835860	chr12:104284081-104284082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112159004	chr12:104284085-104284086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576501450	chr12:104284114-104284115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145209288	chr12:104284115-104284116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375519325	chr12:104284116-104284117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs5800603	chr12:104284121-104284122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11387925	chr12:104284124-104284125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28563787	chr12:104284125-104284126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs67015129	chr12:104284130-104284131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376757142	chr12:104284131-104284132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3887987	chr12:104284135-104284136	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139010020	chr12:104284180-104284181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185633073	chr12:104284196-104284197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141601135	chr12:104284231-104284232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533350705	chr12:104284259-104284260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3850018	chr12:104284268-104284269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs3850019	chr12:104284272-104284273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543076852	chr12:104284286-104284287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3850020	chr12:104284314-104284315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190439477	chr12:104284315-104284316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180882070	chr12:104284364-104284365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527611749	chr12:104284438-104284439	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142970715	chr12:104284483-104284484	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547361483	chr12:104284492-104284493	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570667160	chr12:104284510-104284511	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539253878	chr12:104284522-104284523	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137940033	chr12:104284524-104284525	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569733312	chr12:104284533-104284534	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535464378	chr12:104284544-104284545	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555428990	chr12:104284554-104284555	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140146039	chr12:104284559-104284560	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571929860	chr12:104284567-104284568	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10778299	chr12:104284637-104284638	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558161236	chr12:104284642-104284643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Autism	22495311	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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104278200-104285800	Enhancers	Fetal Thymus	thymus
2	chr12:104279200-104284200	Weak transcription	Thymus	Thymus
3	chr12:104281200-104284200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:104282600-104284800	Weak transcription	Pancreas	Pancrea
5	chr12:104283400-104284000	Enhancers	GM12878-XiMat	blood
6	chr12:104283400-104284400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
8	chr12:104284200-104284600	Enhancers	Thymus	Thymus
9	chr12:104284400-104284600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104284400-104284600	ZNF genes & repeats	Lung	lung
11	chr12:104284600-104288000	Weak transcription	Lung	lung
12	chr12:104284600-104294200	Weak transcription	Thymus	Thymus

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