Variant report

Variant	nsv899264
Chromosome Location	chr12:73378387-73495622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:73278361..73280409-chr12:73393211..73395574,2	K562	blood:
2	chr12:73461127..73463632-chr9:103114692..103116309,2	MCF-7	breast:
3	chr12:73469631..73472442-chr12:73473148..73475503,2	K562	blood:
4	chr12:73469631..73472442-chr12:73473148..73475503,2	K562	blood:

Variant related genes	Relation type
ENSG00000136891	chromatin interactions

Extended variants
information (count: 1997 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1997 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9988925	chr12:73378387-73378388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569517341	chr12:73378398-73378399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142225175	chr12:73378459-73378460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536472764	chr12:73378473-73378474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548760047	chr12:73378480-73378481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187070762	chr12:73378517-73378518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534257001	chr12:73378521-73378522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527243842	chr12:73378525-73378526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558992480	chr12:73378529-73378530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577279604	chr12:73378536-73378537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527349197	chr12:73378634-73378635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75612100	chr12:73378635-73378636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116344046	chr12:73378668-73378669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547194603	chr12:73378676-73378677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556534724	chr12:73378739-73378740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190695613	chr12:73378776-73378777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17111955	chr12:73378797-73378798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560286032	chr12:73378806-73378807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181392548	chr12:73378816-73378817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11834668	chr12:73378818-73378819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375988281	chr12:73378837-73378838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17111962	chr12:73378877-73378878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531239807	chr12:73378923-73378924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549344703	chr12:73378940-73378941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185872986	chr12:73378941-73378942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530410655	chr12:73378969-73378970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113375570	chr12:73378988-73378989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567006878	chr12:73379012-73379013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547533041	chr12:73379126-73379127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181155353	chr12:73379139-73379140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570944883	chr12:73379178-73379179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538273235	chr12:73379224-73379225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74103895	chr12:73379252-73379253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186699516	chr12:73379287-73379288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568306261	chr12:73379353-73379354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535701277	chr12:73379370-73379371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553689472	chr12:73379420-73379421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4628746	chr12:73379445-73379446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74103898	chr12:73379481-73379482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190683639	chr12:73379482-73379483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575729025	chr12:73379567-73379568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543054440	chr12:73379571-73379572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561683248	chr12:73379580-73379581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78459685	chr12:73379606-73379607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182926172	chr12:73379613-73379614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550915934	chr12:73379618-73379619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188624477	chr12:73379630-73379631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560533855	chr12:73379636-73379637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191054620	chr12:73379637-73379638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552784833	chr12:73379639-73379640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73376800-73394200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:73383800-73384200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:73394200-73394600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:73394200-73395400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:73394200-73395800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:73394400-73394800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:73394400-73395600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:73394400-73395800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:73394600-73395800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:73394800-73395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:73395000-73395600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:73395200-73395800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:73395400-73395800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:73395600-73396800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:73395600-73399800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:73395800-73396400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:73395800-73396600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:73395800-73396600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:73396400-73398000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:73396600-73396800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:73396600-73397800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
22	chr12:73396800-73397000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:73396800-73401200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:73397800-73398400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:73398000-73398400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:73398400-73398800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:73398400-73400800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
28	chr12:73398800-73400000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:73399800-73401200	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:73400000-73401000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:73400800-73402400	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:73401000-73402800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:73401200-73401400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:73401400-73403200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:73401600-73402600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:73402400-73402600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:73402600-73403200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:73402800-73403400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:73403400-73405800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:73403400-73410600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:73407000-73407800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr12:73407800-73410400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:73410200-73410800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:73410200-73411000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:73410400-73411000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:73410400-73411200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:73410600-73411000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr12:73424200-73424600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:73425200-73425800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:73435000-73435800	Enhancers	HUES48 Cell Line	embryonic stem cell

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