Variant report

Variant	esv3500530
Chromosome Location	chr12:33822185-33826483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33825675..33828123-chr8:42750828..42752625,2	MCF-7	breast:
2	chr12:33817225..33819690-chr12:33823230..33824769,2	MCF-7	breast:
3	chr12:33815236..33817568-chr12:33820316..33823181,2	K562	blood:

Variant related genes	Relation type
ENSG00000168172	chromatin interactions
ENSG00000120925	chromatin interactions
ENSG00000266044	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs116332205	chr12:33822194-33822195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372930378	chr12:33822228-33822229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571723151	chr12:33822244-33822245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145794518	chr12:33822248-33822249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376687670	chr12:33822273-33822274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140728467	chr12:33822288-33822289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550066982	chr12:33822290-33822291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563910619	chr12:33822293-33822294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532624687	chr12:33822314-33822315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552721696	chr12:33822325-33822326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566214173	chr12:33822341-33822342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115601957	chr12:33822351-33822352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548613301	chr12:33822456-33822457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567435999	chr12:33822457-33822458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555880378	chr12:33822477-33822478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145910409	chr12:33822504-33822505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544827672	chr12:33822521-33822522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185275522	chr12:33822539-33822540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372280583	chr12:33822541-33822542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11052830	chr12:33822562-33822563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534077841	chr12:33822580-33822581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533467845	chr12:33822677-33822678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571835639	chr12:33822739-33822740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199944464	chr12:33822769-33822770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115598146	chr12:33822809-33822810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554558626	chr12:33822837-33822838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369044259	chr12:33822853-33822854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574986183	chr12:33822927-33822928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544116236	chr12:33822963-33822964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563836718	chr12:33822970-33822971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557734761	chr12:33823038-33823039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532735305	chr12:33823051-33823052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34964520	chr12:33823096-33823097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397776575	chr12:33823103-33823104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397849994	chr12:33823104-33823105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201573921	chr12:33823108-33823109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78776911	chr12:33823129-33823130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141258040	chr12:33823151-33823152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376884102	chr12:33823202-33823203	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529363759	chr12:33823226-33823227	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541138417	chr12:33823266-33823267	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs527739623	chr12:33823271-33823272	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs143236310	chr12:33823291-33823292	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs567787559	chr12:33823408-33823409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs559721332	chr12:33823463-33823464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111782579	chr12:33823467-33823468	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs148325870	chr12:33823475-33823476	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568447497	chr12:33823490-33823491	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs190152478	chr12:33823507-33823508	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs550066388	chr12:33823514-33823515	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33820800-33823400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:33821000-33824200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:33821600-33822400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:33821600-33822400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:33821600-33823800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:33821800-33822800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:33822200-33822400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr12:33822400-33823200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:33822400-33823600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:33822400-33825000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:33822400-33825800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr12:33822600-33825800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:33822800-33823000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:33823000-33823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:33823200-33823800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:33823400-33823600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:33823400-33823800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:33823600-33825400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr12:33823600-33825800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:33823800-33824000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:33823800-33824200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:33823800-33826600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:33824000-33824400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:33824200-33824600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:33824200-33825800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr12:33824200-33826200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:33824400-33825400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:33824400-33826400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr12:33824600-33827000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:33825600-33826200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:33825800-33826200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:33826200-33831400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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