Variant report

Variant	nsv8993
Chromosome Location	chr12:73090279-73108117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 792 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145397103	chr12:73093404-73093405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575361370	chr12:73093490-73093491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs191642570	chr12:73093509-73093510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs183548916	chr12:73093521-73093522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572829053	chr12:73093551-73093552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187317281	chr12:73093587-73093588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146840700	chr12:73093613-73093614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs76555554	chr12:73093660-73093661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs140645614	chr12:73093677-73093678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192209453	chr12:73093714-73093715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs543142922	chr12:73093741-73093742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs561106040	chr12:73093750-73093751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528462250	chr12:73093777-73093778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546695864	chr12:73093801-73093802	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113195677	chr12:73093807-73093808	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532448500	chr12:73093810-73093811	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550790823	chr12:73093823-73093824	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113389227	chr12:73093827-73093828	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182432137	chr12:73093830-73093831	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553824974	chr12:73093862-73093863	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73330660	chr12:73093879-73093880	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186813074	chr12:73093880-73093881	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77228846	chr12:73093889-73093890	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567465558	chr12:73093921-73093922	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536358643	chr12:73093933-73093934	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558271596	chr12:73093954-73093955	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577914255	chr12:73094022-73094023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs545335298	chr12:73094023-73094024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs111320523	chr12:73094085-73094086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs114026954	chr12:73094091-73094092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575463979	chr12:73094097-73094098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs542875757	chr12:73094186-73094187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs369445496	chr12:73094210-73094211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191275253	chr12:73094211-73094212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182738618	chr12:73094242-73094243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs374186945	chr12:73094261-73094262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs540571797	chr12:73094283-73094284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565322513	chr12:73094298-73094299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556093303	chr12:73094299-73094300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150189909	chr12:73094315-73094316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561592632	chr12:73096631-73096632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189944866	chr12:73096646-73096647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540622626	chr12:73096676-73096677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs146445118	chr12:73096680-73096681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs114781057	chr12:73096710-73096711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs552932282	chr12:73096798-73096799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs564793297	chr12:73096819-73096820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531908901	chr12:73096820-73096821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs550359962	chr12:73096828-73096829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs140906460	chr12:73096834-73096835	ZNF genes & repeats	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
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
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73093400-73093600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:73093400-73094000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr12:73093800-73094000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:73094000-73094400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:73096600-73097000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr12:73096800-73097400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr12:73097400-73100000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:73099400-73099800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:73100000-73100800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:73100800-73102000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr12:73102000-73104600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:73104600-73105800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:73105000-73106600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:73105800-73108000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:73105800-73113200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:73106600-73106800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:73106800-73110400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:73108000-73112400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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