Variant report

Variant	nsv973943
Chromosome Location	chr12:83282023-83287413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:83079688..83081894-chr12:83286384..83287965,2	MCF-7	breast:
2	chr12:83286167..83286675-chr13:76878102..76878843,2	MCF-7	breast:
3	chr12:83278119..83280472-chr12:83281151..83283722,2	K562	blood:

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538610707	chr12:83282068-83282069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146637017	chr12:83282078-83282079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576383685	chr12:83282147-83282148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79078392	chr12:83282196-83282197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7135560	chr12:83282216-83282217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73360267	chr12:83282259-83282260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576725298	chr12:83282264-83282265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543906850	chr12:83282321-83282322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565357107	chr12:83282338-83282339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1796201	chr12:83282360-83282361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541407258	chr12:83282362-83282363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1796202	chr12:83282386-83282387	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs527536134	chr12:83282444-83282445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548876415	chr12:83282470-83282471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3993373	chr12:83282671-83282672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139052455	chr12:83282672-83282673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370634088	chr12:83282688-83282689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549597597	chr12:83282693-83282694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571308451	chr12:83282694-83282695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2403035	chr12:83282718-83282719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547320811	chr12:83282731-83282732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79635154	chr12:83282751-83282752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559634335	chr12:83282780-83282781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375816607	chr12:83282785-83282786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142533158	chr12:83282786-83282787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555322729	chr12:83282791-83282792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10862519	chr12:83282797-83282798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537626928	chr12:83282798-83282799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150956339	chr12:83282801-83282802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577266742	chr12:83282819-83282820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541171172	chr12:83282828-83282829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140791692	chr12:83282829-83282830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374510432	chr12:83282858-83282859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5028904	chr12:83282859-83282860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542487826	chr12:83282916-83282917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560831084	chr12:83282917-83282918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531537241	chr12:83282942-83282943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7972978	chr12:83282949-83282950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564932957	chr12:83282962-83282963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370767025	chr12:83283000-83283001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11115475	chr12:83283004-83283005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143325259	chr12:83283007-83283008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61931363	chr12:83283045-83283046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75335415	chr12:83283047-83283048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2707757	chr12:83283061-83283062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535665828	chr12:83283141-83283142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190211408	chr12:83283184-83283185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182533333	chr12:83283211-83283212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548241857	chr12:83283229-83283230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570354247	chr12:83283232-83283233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21785460	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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
2	chr12:83274400-83304200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:83274600-83284200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:83274600-83286000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:83274600-83298400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:83274800-83282800	Weak transcription	Fetal Brain Female	brain
7	chr12:83277800-83282600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:83278200-83282400	Weak transcription	Fetal Brain Male	brain
9	chr12:83278200-83313400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:83278800-83283000	Weak transcription	Aorta	Aorta
11	chr12:83279000-83289800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:83279000-83336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:83279800-83283600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:83280400-83282400	Enhancers	Fetal Lung	lung
15	chr12:83281000-83306400	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:83282000-83282400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:83282000-83295200	Weak transcription	Fetal Stomach	stomach
18	chr12:83282200-83282400	Enhancers	Fetal Kidney	kidney
19	chr12:83282400-83283800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:83282400-83291800	Weak transcription	Fetal Lung	lung
21	chr12:83282400-83294600	Weak transcription	Fetal Kidney	kidney
22	chr12:83282600-83283800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:83283800-83284200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:83283800-83285000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:83284200-83285000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:83284200-83289600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:83285000-83290000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:83285000-83291400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:83285600-83287600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:83285600-83288600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:83286000-83287400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr12:83286200-83292400	Weak transcription	Fetal Brain Female	brain
33	chr12:83286400-83286600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:83286800-83287800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:83287400-83288200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr12:83287400-83292000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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