Variant report

Variant	nsv899268
Chromosome Location	chr12:73405043-73495622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000136891	chromatin interactions

Extended variants
information (count: 854 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11179503	chr12:73405043-73405044	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557020683	chr12:73405053-73405054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs575207739	chr12:73405072-73405073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs201569558	chr12:73405105-73405106	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544040827	chr12:73405106-73405107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs112223445	chr12:73405107-73405108	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75090830	chr12:73405116-73405117	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs542623632	chr12:73405136-73405137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs560691089	chr12:73405233-73405234	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572481113	chr12:73405251-73405252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541357516	chr12:73405278-73405279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200578688	chr12:73405323-73405324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs535173838	chr12:73405362-73405363	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559608594	chr12:73405407-73405408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs555197940	chr12:73405424-73405425	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs533354958	chr12:73405443-73405444	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs545158930	chr12:73405449-73405450	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572096435	chr12:73405458-73405459	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs1606998	chr12:73405472-73405473	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375428818	chr12:73405475-73405476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541053361	chr12:73405502-73405503	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376766433	chr12:73405528-73405529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113859308	chr12:73405577-73405578	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs146151132	chr12:73405582-73405583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs182904089	chr12:73405636-73405637	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs80090380	chr12:73405637-73405638	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78023359	chr12:73405644-73405645	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556843395	chr12:73405660-73405661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368113593	chr12:73405663-73405664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs568955884	chr12:73405684-73405685	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs114992160	chr12:73405685-73405686	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs554630354	chr12:73405693-73405694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs188357924	chr12:73405736-73405737	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539837643	chr12:73405756-73405757	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs553262319	chr12:73405803-73405804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140156463	chr12:73405853-73405854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117628195	chr12:73405876-73405877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563761512	chr12:73405880-73405881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12310466	chr12:73405882-73405883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142266160	chr12:73405889-73405890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559555376	chr12:73405931-73405932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528499530	chr12:73405954-73405955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546024304	chr12:73405966-73405967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376642906	chr12:73405968-73405969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571578740	chr12:73406040-73406041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191149036	chr12:73406158-73406159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550827704	chr12:73406169-73406170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111517558	chr12:73406234-73406235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568989237	chr12:73406245-73406246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536435561	chr12:73406276-73406277	Weak transcription	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
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	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73403400-73405800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:73403400-73410600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:73407000-73407800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr12:73407800-73410400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:73410200-73410800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:73410200-73411000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:73410400-73411000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:73410400-73411200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:73410600-73411000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr12:73424200-73424600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:73425200-73425800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:73435000-73435800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:73444600-73444800	Enhancers	Pancreas	Pancrea
14	chr12:73460000-73466200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:73466200-73466400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:73466200-73466400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:73466400-73467200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:73469200-73471200	Enhancers	Liver	Liver
19	chr12:73473400-73473800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:73481600-73482400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr12:73487800-73488400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:73490600-73492200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:73490800-73492200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:73491000-73491400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:73491000-73491600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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