Variant report

Variant	esv3440103
Chromosome Location	chr12:116856371-116856823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:116851902..116854715-chr12:116856718..116858455,2	K562	blood:
2	chr12:116854677..116856418-chr12:116858320..116861073,2	MCF-7	breast:
3	chr12:116843273..116846667-chr12:116853532..116856656,3	MCF-7	breast:
4	chr12:116855904..116857605-chr12:116861971..116863958,2	MCF-7	breast:
5	chr12:116855670..116857875-chr12:116931428..116933849,2	MCF-7	breast:
6	chr12:116807283..116809324-chr12:116853961..116856679,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532514570	chr12:116856381-116856382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111912094	chr12:116856390-116856391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528415822	chr12:116856392-116856393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548171329	chr12:116856408-116856409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9300331	chr12:116856430-116856431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113805420	chr12:116856438-116856439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186188354	chr12:116856470-116856471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191432577	chr12:116856474-116856475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73204048	chr12:116856527-116856528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370876523	chr12:116856548-116856549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9300332	chr12:116856549-116856550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535780997	chr12:116856565-116856566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73204049	chr12:116856585-116856586	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183177874	chr12:116856592-116856593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539059867	chr12:116856603-116856604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564387113	chr12:116856635-116856636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148144590	chr12:116856654-116856655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545991098	chr12:116856656-116856657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373419351	chr12:116856667-116856668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528376569	chr12:116856696-116856697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548528498	chr12:116856709-116856710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561664429	chr12:116856718-116856719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530464751	chr12:116856719-116856720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185022381	chr12:116856729-116856730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557559374	chr12:116856733-116856734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146166759	chr12:116856782-116856783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116844800-116862400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:116849000-116858200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:116849200-116858000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:116850000-116860600	Weak transcription	NHDF-Ad	bronchial
5	chr12:116854200-116858200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:116854200-116864000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:116854400-116858000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:116854400-116858200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:116854400-116858200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:116854400-116858200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:116854400-116858400	Weak transcription	A549	lung
12	chr12:116854400-116859600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:116854400-116863600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:116854600-116856400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:116854600-116858000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:116854600-116858000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:116854600-116858200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:116854600-116859800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:116854800-116858200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:116855000-116863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:116855200-116858200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:116856200-116856800	Enhancers	Dnd41	blood
23	chr12:116856400-116856600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:116856400-116856800	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:116856400-116856800	Weak transcription	Right Atrium	heart
26	chr12:116856600-116856800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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