Variant report

Variant	nsv469497
Chromosome Location	chr12:84065324-84154003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:84138106..84138606-chr20:52739927..52740820,2	MCF-7	breast:
2	chr12:84142380..84143885-chr12:84146991..84148661,2	MCF-7	breast:
3	chr12:84142380..84143885-chr12:84146991..84148661,2	MCF-7	breast:

Extended variants
information (count: 1275 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1275 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78512707	chr12:84065407-84065408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573674003	chr12:84065411-84065412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386764803	chr12:84065430-84065431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186033181	chr12:84065431-84065432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74568647	chr12:84065441-84065442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572540472	chr12:84065484-84065485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141503880	chr12:84065536-84065537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150884075	chr12:84065539-84065540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190856656	chr12:84065551-84065552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183906064	chr12:84065588-84065589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186287026	chr12:84065607-84065608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7962126	chr12:84065648-84065649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs569393411	chr12:84065658-84065659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540001976	chr12:84065691-84065692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558392439	chr12:84065699-84065700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371412895	chr12:84065700-84065701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374281227	chr12:84065778-84065779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149649873	chr12:84065779-84065780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7961422	chr12:84065780-84065781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544217935	chr12:84065977-84065978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7964889	chr12:84066317-84066318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545629803	chr12:84066419-84066420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562410180	chr12:84066880-84066881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200014516	chr12:84067004-84067005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200475975	chr12:84067093-84067094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201863691	chr12:84067234-84067235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577330088	chr12:84067254-84067255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544756107	chr12:84067270-84067271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200075132	chr12:84067286-84067287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201012195	chr12:84067403-84067404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202149561	chr12:84067418-84067419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547941805	chr12:84067646-84067647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113641444	chr12:84067664-84067665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200168504	chr12:84067685-84067686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376947950	chr12:84067718-84067719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369116096	chr12:84067754-84067755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372685642	chr12:84067766-84067767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201347829	chr12:84067819-84067820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12833350	chr12:84068033-84068034	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs12813884	chr12:84068034-84068035	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs56177521	chr12:84068120-84068121	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs574248124	chr12:84068123-84068124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549039337	chr12:84068176-84068177	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562092600	chr12:84068197-84068198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs61954299	chr12:84068200-84068201	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs373799350	chr12:84068219-84068220	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs529242817	chr12:84068228-84068229	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs61954300	chr12:84068232-84068233	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376422524	chr12:84068240-84068241	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs28793321	chr12:84068291-84068292	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84065400-84068000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:84068000-84068800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:84070400-84072600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr12:84074000-84074600	Enhancers	Fetal Heart	heart
5	chr12:84074200-84074400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:84083800-84084600	Enhancers	NHEK	skin
7	chr12:84084000-84084600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:84084000-84084600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:84084000-84084600	Enhancers	HMEC	breast
10	chr12:84100400-84103800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:84103800-84105400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:84104200-84105200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr12:84104600-84105200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr12:84104600-84105200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:84104800-84105200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:84105200-84105800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:84105200-84106200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:84105400-84109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:84111200-84113400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:84112600-84113000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:84113000-84113200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:84113200-84122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:84113400-84113800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:84113400-84113800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr12:84146600-84147600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:84146600-84147600	Enhancers	NHEK	skin
27	chr12:84146800-84147400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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