Variant report

Variant	nsv899265
Chromosome Location	chr12:73394315-73448714
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: 844 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:844 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12371588	chr12:73394315-73394316	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533025861	chr12:73394327-73394328	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551542399	chr12:73394335-73394336	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377631443	chr12:73394340-73394341	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530572906	chr12:73394355-73394356	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142646100	chr12:73394382-73394383	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117967800	chr12:73394443-73394444	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534585396	chr12:73394500-73394501	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74859390	chr12:73394507-73394508	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566361375	chr12:73394533-73394534	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539686724	chr12:73394536-73394537	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558294287	chr12:73394556-73394557	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146268478	chr12:73394586-73394587	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537110678	chr12:73394635-73394636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35989940	chr12:73394636-73394637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117513571	chr12:73394651-73394652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182710069	chr12:73394657-73394658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115395085	chr12:73394706-73394707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34756842	chr12:73394727-73394728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34097491	chr12:73394731-73394732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577826544	chr12:73394791-73394792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544879664	chr12:73394799-73394800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138732814	chr12:73394813-73394814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35117361	chr12:73394822-73394823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149367830	chr12:73394850-73394851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35342681	chr12:73394852-73394853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375270825	chr12:73394857-73394858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112728053	chr12:73394858-73394859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560944709	chr12:73394875-73394876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10082888	chr12:73394881-73394882	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs35819547	chr12:73394884-73394885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35184350	chr12:73394897-73394898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546567824	chr12:73394934-73394935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566254877	chr12:73394935-73394936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546160182	chr12:73394936-73394937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540080611	chr12:73394941-73394942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551695169	chr12:73394952-73394953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569946854	chr12:73394986-73394987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537224386	chr12:73395011-73395012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555485534	chr12:73395015-73395016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186629210	chr12:73395051-73395052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542290155	chr12:73395067-73395068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12319493	chr12:73395069-73395070	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192464735	chr12:73395076-73395077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577880731	chr12:73395087-73395088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545254321	chr12:73395089-73395090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146028392	chr12:73395130-73395131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575538844	chr12:73395132-73395133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374317108	chr12:73395142-73395143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542841538	chr12:73395145-73395146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73394200-73394600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:73394200-73395400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:73394200-73395800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:73394400-73394800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:73394400-73395600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:73394400-73395800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:73394600-73395800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:73394800-73395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:73395000-73395600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:73395200-73395800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:73395400-73395800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:73395600-73396800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:73395600-73399800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:73395800-73396400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:73395800-73396600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:73395800-73396600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:73396400-73398000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:73396600-73396800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:73396600-73397800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
20	chr12:73396800-73397000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:73396800-73401200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:73397800-73398400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr12:73398000-73398400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:73398400-73398800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:73398400-73400800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
26	chr12:73398800-73400000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:73399800-73401200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr12:73400000-73401000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:73400800-73402400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr12:73401000-73402800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:73401200-73401400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:73401400-73403200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:73401600-73402600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:73402400-73402600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr12:73402600-73403200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:73402800-73403400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:73403400-73405800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:73403400-73410600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:73407000-73407800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr12:73407800-73410400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:73410200-73410800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:73410200-73411000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:73410400-73411000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr12:73410400-73411200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:73410600-73411000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr12:73424200-73424600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:73425200-73425800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:73435000-73435800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:73444600-73444800	Enhancers	Pancreas	Pancrea

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