Variant report

Variant	esv3485731
Chromosome Location	chr12:33713185-33718483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33711689..33714048-chr12:33717879..33720013,2	MCF-7	breast:
2	chr12:33592469..33594296-chr12:33715860..33717717,2	MCF-7	breast:
3	chr12:33704309..33707491-chr12:33710515..33713446,4	K562	blood:
4	chr12:33711689..33714048-chr12:33717879..33720013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110975	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs186397685	chr12:33713221-33713222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551286511	chr12:33713225-33713226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138787993	chr12:33713293-33713294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61927759	chr12:33713297-33713298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141367176	chr12:33713320-33713321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566961299	chr12:33713346-33713347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535603406	chr12:33713391-33713392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548958394	chr12:33713436-33713437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150791245	chr12:33713445-33713446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549082033	chr12:33713448-33713449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557242045	chr12:33713518-33713519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576924817	chr12:33713534-33713535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190639397	chr12:33713541-33713542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79343337	chr12:33713561-33713562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73315791	chr12:33713564-33713565	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114940111	chr12:33713570-33713571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113360456	chr12:33713611-33713612	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575334055	chr12:33713623-33713624	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79477000	chr12:33713627-33713628	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80349717	chr12:33713628-33713629	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1482994	chr12:33713631-33713632	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564810539	chr12:33713633-33713634	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180994030	chr12:33713649-33713650	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547170621	chr12:33713674-33713675	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560357274	chr12:33713680-33713681	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115483493	chr12:33713699-33713700	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73315793	chr12:33713718-33713719	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568881044	chr12:33713743-33713744	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80298476	chr12:33713748-33713749	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74392940	chr12:33713754-33713755	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374586296	chr12:33713755-33713756	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186172953	chr12:33713827-33713828	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs7308214	chr12:33713834-33713835	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145936980	chr12:33713847-33713848	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573108752	chr12:33713881-33713882	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs139866690	chr12:33713889-33713890	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs115392679	chr12:33713933-33713934	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs372279262	chr12:33713977-33713978	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs7137195	chr12:33714015-33714016	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143225976	chr12:33714022-33714023	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs578190740	chr12:33714039-33714040	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs116145168	chr12:33714051-33714052	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs375886557	chr12:33714052-33714053	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs191469861	chr12:33714082-33714083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78838793	chr12:33714083-33714084	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs549028262	chr12:33714095-33714096	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs562649839	chr12:33714154-33714155	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146610806	chr12:33714196-33714197	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs148762609	chr12:33714235-33714236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12424056	chr12:33714314-33714315	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33704800-33714600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33710000-33713600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:33711600-33713200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:33712400-33713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:33712600-33713400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:33712800-33713800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:33713200-33713600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:33713400-33713600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:33713400-33714400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:33713600-33713800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:33713600-33713800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:33713600-33714000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:33713600-33714000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr12:33713600-33714000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:33713600-33714400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:33713600-33714400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:33713600-33714600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:33713800-33714000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:33713800-33714400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:33713800-33714400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:33714000-33714200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr12:33714000-33714600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:33714000-33714800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr12:33714200-33714600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:33714600-33714800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:33714600-33714800	ZNF genes & repeats	Pancreas	Pancrea
27	chr12:33714600-33715000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:33715600-33716200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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