Variant report

Variant	esv2759909
Chromosome Location	chr12:73374686-73417263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:73278361..73280409-chr12:73393211..73395574,2	K562	blood:

Extended variants
information (count: 1503 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1503 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375825825	chr12:73375218-73375219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561672586	chr12:73375240-73375241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533262051	chr12:73375278-73375279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35496986	chr12:73375380-73375381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551399554	chr12:73375402-73375403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563305313	chr12:73375469-73375470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138244136	chr12:73375513-73375514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548839492	chr12:73375523-73375524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182047313	chr12:73375534-73375535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534853640	chr12:73375555-73375556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368570655	chr12:73375592-73375593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141951067	chr12:73375604-73375605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377631179	chr12:73375627-73375628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540679626	chr12:73375628-73375629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143006431	chr12:73375663-73375664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560290919	chr12:73375698-73375699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17111936	chr12:73375699-73375700	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529551234	chr12:73375700-73375701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537756254	chr12:73375714-73375715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77908398	chr12:73375743-73375744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76403393	chr12:73375748-73375749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541654577	chr12:73375762-73375763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117482464	chr12:73375779-73375780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7303211	chr12:73375834-73375835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545056893	chr12:73375841-73375842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563366690	chr12:73375860-73375861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530782593	chr12:73375867-73375868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531817749	chr12:73375869-73375870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548952358	chr12:73375949-73375950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141189441	chr12:73376115-73376116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551047648	chr12:73376158-73376159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528372929	chr12:73376204-73376205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187578728	chr12:73376215-73376216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35430931	chr12:73376237-73376238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192791631	chr12:73376245-73376246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150754020	chr12:73376246-73376247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199918076	chr12:73376250-73376251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183798933	chr12:73376283-73376284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199623524	chr12:73376324-73376325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115059690	chr12:73376349-73376350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554263275	chr12:73376427-73376428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17111938	chr12:73376472-73376473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138943693	chr12:73376486-73376487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189155045	chr12:73376499-73376500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577790732	chr12:73376529-73376530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192840276	chr12:73376544-73376545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557068892	chr12:73376577-73376578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575313886	chr12:73376593-73376594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202092890	chr12:73376617-73376618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184577178	chr12:73376684-73376685	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73375200-73375400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr12:73375200-73376800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:73375400-73376000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:73376000-73376600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:73376800-73394200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:73383800-73384200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:73394200-73394600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:73394200-73395400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:73394200-73395800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:73394400-73394800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:73394400-73395600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:73394400-73395800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:73394600-73395800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:73394800-73395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:73395000-73395600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:73395200-73395800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:73395400-73395800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:73395600-73396800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:73395600-73399800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:73395800-73396400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:73395800-73396600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:73395800-73396600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:73396400-73398000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:73396600-73396800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:73396600-73397800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
26	chr12:73396800-73397000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:73396800-73401200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr12:73397800-73398400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:73398000-73398400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:73398400-73398800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:73398400-73400800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
32	chr12:73398800-73400000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:73399800-73401200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr12:73400000-73401000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:73400800-73402400	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:73401000-73402800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:73401200-73401400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:73401400-73403200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:73401600-73402600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:73402400-73402600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr12:73402600-73403200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr12:73402800-73403400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:73403400-73405800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:73403400-73410600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:73407000-73407800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr12:73407800-73410400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:73410200-73410800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:73410200-73411000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:73410400-73411000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:73410400-73411200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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