Variant report

Variant	esv3357983
Chromosome Location	chr12:29400719-29402357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148500476	chr12:29400762-29400763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560272521	chr12:29400770-29400771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142983063	chr12:29400786-29400787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546150585	chr12:29400787-29400788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180951543	chr12:29400794-29400795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151105205	chr12:29400803-29400804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377709632	chr12:29400816-29400817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185167077	chr12:29400844-29400845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374172506	chr12:29400847-29400848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146706564	chr12:29400905-29400906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541045953	chr12:29400912-29400913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565854169	chr12:29400935-29400936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192158502	chr12:29400965-29400966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199547427	chr12:29400974-29400975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555928850	chr12:29400984-29400985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574027153	chr12:29400990-29400991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538282889	chr12:29401067-29401068	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs556272723	chr12:29401083-29401084	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs578203017	chr12:29401085-29401086	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545330084	chr12:29401089-29401090	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560330214	chr12:29401094-29401095	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572339573	chr12:29401167-29401168	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559020127	chr12:29401186-29401187	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs542792675	chr12:29401236-29401237	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183929496	chr12:29401238-29401239	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs377588418	chr12:29401240-29401241	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531299403	chr12:29401250-29401251	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529779607	chr12:29401253-29401254	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs549761005	chr12:29401268-29401269	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs6487787	chr12:29401286-29401287	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532460675	chr12:29401295-29401296	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs547677490	chr12:29401296-29401297	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs6487788	chr12:29401300-29401301	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145272327	chr12:29401319-29401320	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs146428737	chr12:29401366-29401367	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188487214	chr12:29401385-29401386	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs570751934	chr12:29401395-29401396	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs537912065	chr12:29401471-29401472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs6487789	chr12:29401506-29401507	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547061016	chr12:29401538-29401539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571523627	chr12:29401539-29401540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs371869460	chr12:29401590-29401591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554073468	chr12:29401609-29401610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs529795034	chr12:29401672-29401673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs370577350	chr12:29401704-29401705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73079530	chr12:29401721-29401722	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548412766	chr12:29401733-29401734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs191784776	chr12:29401744-29401745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554705030	chr12:29401817-29401818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576092739	chr12:29401819-29401820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
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
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 myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Intellectual disability	21811512	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29396800-29413200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:29397800-29401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:29398400-29401400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:29399000-29401400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:29400000-29400800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:29400000-29401200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:29400200-29400800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:29400600-29401000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:29400800-29401800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:29400800-29411400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:29401000-29401800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:29401200-29402400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:29401400-29402400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:29401600-29401800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr12:29401800-29402600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:29402000-29408000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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