Variant report

Variant	nsv560514
Chromosome Location	chr12:124395982-124399550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124389629..124391597-chr12:124394347..124396284,2	K562	blood:
2	chr12:124391978..124393581-chr12:124398813..124401282,2	MCF-7	breast:
3	chr12:124399326..124401527-chr12:124406576..124410878,3	MCF-7	breast:
4	chr12:124397207..124398875-chr12:124456168..124458505,2	MCF-7	breast:
5	chr12:124397721..124401102-chr12:124402433..124404220,3	K562	blood:
6	chr12:124397482..124399331-chr12:124424154..124425975,2	K562	blood:

Variant related genes	Relation type
ENSG00000270028	chromatin interactions
ENSG00000197653	chromatin interactions
ENSG00000270095	chromatin interactions
ENSG00000179195	chromatin interactions
ENSG00000119242	chromatin interactions
ENSG00000178882	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs112035131	chr12:124395990-124395991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192865833	chr12:124396000-124396001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200136800	chr12:124396043-124396044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111219700	chr12:124396057-124396058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200844335	chr12:124396066-124396067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184905207	chr12:124396111-124396112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202016156	chr12:124396116-124396117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111219591	chr12:124396129-124396130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184342417	chr12:124396131-124396132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11330823	chr12:124396180-124396181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201182893	chr12:124396219-124396220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199764946	chr12:124396243-124396244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550551901	chr12:124396265-124396266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202152719	chr12:124396286-124396287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189168396	chr12:124396308-124396309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200336488	chr12:124396325-124396326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111219758	chr12:124396328-124396329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201439083	chr12:124396364-124396365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200368397	chr12:124396396-124396397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182009767	chr12:124396405-124396406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186074506	chr12:124396448-124396449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190894905	chr12:124396463-124396464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181244498	chr12:124396468-124396469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186222138	chr12:124396492-124396493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190340530	chr12:124396500-124396501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182873131	chr12:124396507-124396508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187551646	chr12:124396520-124396521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201424318	chr12:124396572-124396573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111219754	chr12:124396601-124396602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199757654	chr12:124396627-124396628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556958479	chr12:124396664-124396665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111219666	chr12:124396665-124396666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191012942	chr12:124396673-124396674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183994020	chr12:124396679-124396680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187795589	chr12:124396688-124396689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111219722	chr12:124396692-124396693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192186176	chr12:124396694-124396695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200358105	chr12:124396720-124396721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184562372	chr12:124396728-124396729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201027613	chr12:124396742-124396743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199644860	chr12:124396769-124396770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200621377	chr12:124396786-124396787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189287862	chr12:124396814-124396815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199580837	chr12:124396816-124396817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186835464	chr12:124396826-124396827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191717005	chr12:124396827-124396828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184300282	chr12:124396841-124396842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201667670	chr12:124396842-124396843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200866721	chr12:124396906-124396907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113716535	chr12:124396936-124396937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
2	chr12:124390200-124397600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:124393000-124397200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:124393200-124398800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:124393400-124396800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:124393800-124418000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:124394200-124400200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:124394200-124418400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:124395400-124397600	Weak transcription	Brain Germinal Matrix	brain
10	chr12:124397000-124397200	Enhancers	Fetal Brain Male	brain
11	chr12:124397000-124397200	Enhancers	Right Ventricle	heart
12	chr12:124397200-124397400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:124397200-124397800	Weak transcription	Fetal Brain Male	brain
14	chr12:124397400-124397600	Enhancers	Duodenum Mucosa	Duodenum
15	chr12:124397600-124397800	Enhancers	Brain Germinal Matrix	brain
16	chr12:124397600-124398000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr12:124397600-124404800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:124397800-124398000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:124397800-124398000	Weak transcription	Brain Germinal Matrix	brain
20	chr12:124397800-124398000	Enhancers	Fetal Brain Male	brain
21	chr12:124397800-124398000	Active TSS	Spleen	Spleen
22	chr12:124397800-124398200	Enhancers	Stomach Mucosa	stomach
23	chr12:124398000-124398200	Active TSS	Duodenum Mucosa	Duodenum
24	chr12:124398000-124400000	Weak transcription	Spleen	Spleen
25	chr12:124398000-124402800	Weak transcription	Fetal Brain Male	brain
26	chr12:124398800-124399600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:124399000-124399800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:124399000-124400000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:124399000-124400800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:124399200-124399400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:124399400-124399600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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