Variant report

Variant	nsv8954
Chromosome Location	chr12:34250867-34262105
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	chr1:227730297..227731134-chr12:34260025..34260625,2	MCF-7	breast:
2	chr12:34247375..34249864-chr12:34256794..34259523,2	MCF-7	breast:

Extended variants
information (count: 190 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548358399	chr12:34250875-34250876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568062940	chr12:34250876-34250877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531870151	chr12:34250926-34250927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79091500	chr12:34250931-34250932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570083873	chr12:34250943-34250944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145259169	chr12:34250947-34250948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553284701	chr12:34250973-34250974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573190396	chr12:34250974-34250975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535722266	chr12:34250980-34250981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530301758	chr12:34250991-34250992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1511547	chr12:34251020-34251021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541099657	chr12:34251037-34251038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111769857	chr12:34251118-34251119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533036232	chr12:34251119-34251120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544660462	chr12:34251128-34251129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55917927	chr12:34251146-34251147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533347341	chr12:34251176-34251177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56260627	chr12:34251201-34251202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540619096	chr12:34251207-34251208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190084559	chr12:34251209-34251210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528345807	chr12:34251250-34251251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548090255	chr12:34251272-34251273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57624552	chr12:34251277-34251278	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530540858	chr12:34251293-34251294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550678033	chr12:34251318-34251319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181792747	chr12:34251370-34251371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368134627	chr12:34251431-34251432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185575293	chr12:34251444-34251445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190301557	chr12:34251454-34251455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566827653	chr12:34251455-34251456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536105495	chr12:34251457-34251458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182008559	chr12:34251464-34251465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531591375	chr12:34251476-34251477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575767083	chr12:34251519-34251520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185061644	chr12:34251520-34251521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537596501	chr12:34251529-34251530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558319626	chr12:34251582-34251583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140812457	chr12:34251583-34251584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547184990	chr12:34258467-34258468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs563138471	chr12:34258472-34258473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs189650813	chr12:34258517-34258518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs552003308	chr12:34258555-34258556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs11053124	chr12:34258556-34258557	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs138899810	chr12:34258557-34258558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs56660926	chr12:34258579-34258580	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536616141	chr12:34258593-34258594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs555251785	chr12:34258617-34258618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs575149392	chr12:34258618-34258619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs117445376	chr12:34258645-34258646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs181117452	chr12:34258703-34258704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34250400-34251200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr12:34251200-34251600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:34258400-34263200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:34258600-34262800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:34259600-34259800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:34259800-34260200	Bivalent/Poised TSS	Right Ventricle	heart
7	chr12:34259800-34262800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:34260000-34260200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr12:34260000-34260200	Bivalent Enhancer	Lung	lung
10	chr12:34260000-34261000	Enhancers	Pancreas	Pancrea
11	chr12:34260400-34260800	Bivalent Enhancer	Liver	Liver
12	chr12:34260600-34260800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:34260600-34260800	Bivalent Enhancer	Adipose Nuclei	Adipose
14	chr12:34260600-34260800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:34260600-34262000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:34260800-34261000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:34260800-34261000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:34260800-34261000	Bivalent Enhancer	Lung	lung
19	chr12:34260800-34261000	Bivalent/Poised TSS	Ovary	ovary
20	chr12:34260800-34261200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:34260800-34261200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:34260800-34261200	Enhancers	Liver	Liver
23	chr12:34260800-34261200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr12:34260800-34261400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:34260800-34261400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr12:34261000-34261200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:34261000-34261200	Flanking Bivalent TSS/Enh	Ovary	ovary
28	chr12:34261000-34261400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:34261000-34261400	Flanking Active TSS	Pancreas	Pancrea
30	chr12:34261000-34261400	Active TSS	Right Atrium	heart
31	chr12:34261200-34261400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
32	chr12:34261200-34261400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:34261200-34261400	Bivalent Enhancer	Right Ventricle	heart
34	chr12:34261200-34261400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr12:34261200-34264600	Enhancers	Placenta	Placenta
36	chr12:34261400-34261800	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr12:34261400-34263000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:34261400-34263600	Weak transcription	Right Atrium	heart

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