Variant report

Variant	esv3364689
Chromosome Location	chr12:38719135-38722083
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:38722036-38722207	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr12:38718296-38719186	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr12:38721780-38721930	AG10803	skin:	n/a	n/a
4	CTCF	chr12:38721908-38722668	A549	lung:	n/a	n/a
5	CTCF	chr12:38721941-38722686	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr12:38722081-38722496	GM12878	blood:	n/a	n/a
7	CTCF	chr12:38722067-38722521	HCT-116	colon:	n/a	n/a
8	CTCF	chr12:38722061-38722402	A549	lung:	n/a	n/a
9	GATA3	chr12:38718702-38719175	SK-N-SH	brain:	n/a	n/a
10	JUND	chr12:38721205-38721263	HepG2	liver:	n/a	n/a
11	RAD21	chr12:38721913-38722827	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr12:38722064-38722440	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr12:38722070-38722541	A549	lung:	n/a	n/a
14	RAD21	chr12:38722007-38722543	HCT-116	colon:	n/a	n/a
15	RAD21	chr12:38722080-38722489	ECC-1	luminal epithelium:	n/a	n/a
16	RAD21	chr12:38722057-38722524	ECC-1	luminal epithelium:	n/a	n/a
17	RFX5	chr12:38718358-38719239	Hela-S3	cervix:	n/a	n/a
18	SMC3	chr12:38722069-38722555	SK-N-SH	brain:	n/a	n/a
19	TCF7L2	chr12:38718276-38719230	Hela-S3	cervix:	n/a	n/a
20	USF1	chr12:38721261-38721381	HepG2	liver:	n/a	chr12:38721334-38721345

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:38721798..38722714-chr12:39305427..39306254,2	MCF-7	breast:
2	chr12:38721916..38722780-chr12:39497511..39498068,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266333	TF binding region

Extended variants
information (count: 124 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556918083	chr12:38719215-38719216	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs147028627	chr12:38719218-38719219	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs398116342	chr12:38719219-38719220	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs7312123	chr12:38719243-38719244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10880909	chr12:38719254-38719255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546045156	chr12:38719266-38719267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559364196	chr12:38719269-38719270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139983399	chr12:38719316-38719317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528485060	chr12:38719317-38719318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548423237	chr12:38719319-38719320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562198464	chr12:38719353-38719354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375498371	chr12:38719357-38719358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530876317	chr12:38719371-38719372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78086833	chr12:38719412-38719413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570613934	chr12:38719443-38719444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12367721	chr12:38719455-38719456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34658506	chr12:38719492-38719493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539753921	chr12:38719503-38719504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575827871	chr12:38719608-38719609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546913464	chr12:38719694-38719695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566502040	chr12:38719730-38719731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112888023	chr12:38719748-38719749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184553873	chr12:38719752-38719753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12812406	chr12:38719802-38719803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs61455420	chr12:38719839-38719840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116880993	chr12:38719845-38719846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141511555	chr12:38719883-38719884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377541319	chr12:38719909-38719910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188143423	chr12:38719918-38719919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60973650	chr12:38719919-38719920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141976317	chr12:38719971-38719972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368135367	chr12:38719972-38719973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71068540	chr12:38719995-38719996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146161194	chr12:38720005-38720006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180800987	chr12:38720014-38720015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35825615	chr12:38720025-38720026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11183339	chr12:38720051-38720052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs531037844	chr12:38720063-38720064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185804444	chr12:38720073-38720074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564319373	chr12:38720094-38720095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373261480	chr12:38720117-38720118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531108505	chr12:38720162-38720163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529624968	chr12:38720246-38720247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142253493	chr12:38720272-38720273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551298953	chr12:38720274-38720275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565460547	chr12:38720280-38720281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546948509	chr12:38720284-38720285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377588800	chr12:38720287-38720288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201633681	chr12:38720296-38720297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200141981	chr12:38720297-38720298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38711400-38719400	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:38711400-38719800	Weak transcription	Placenta	Placenta
3	chr12:38711400-38721200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:38711400-38722000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:38711400-38722600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:38711400-38722800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:38711600-38719200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:38711800-38724400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:38712000-38721200	Weak transcription	Liver	Liver
10	chr12:38712000-38721600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:38713400-38719800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:38713400-38720400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:38713600-38720400	Weak transcription	Dnd41	blood
14	chr12:38713800-38722000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:38718200-38719600	Enhancers	Hela-S3	cervix
16	chr12:38719600-38721800	Weak transcription	Hela-S3	cervix
17	chr12:38721200-38721400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:38721200-38722200	Enhancers	Liver	Liver
19	chr12:38721400-38722000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:38721800-38722000	Enhancers	Hela-S3	cervix
21	chr12:38722000-38722200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:38722000-38722200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:38722000-38722400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:38722000-38722400	Weak transcription	Hela-S3	cervix
25	chr12:38722000-38723000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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