Variant report

Variant	esv3323260
Chromosome Location	chr12:64935710-64938558
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	chr12:64934818..64936342-chr12:65065685..65068123,2	K562	blood:
2	chr12:64936758..64937278-chr3:50654418..50655050,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000114738	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10878187	chr12:64935746-64935747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543274781	chr12:64935779-64935780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556494097	chr12:64935795-64935796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138166775	chr12:64935841-64935842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145583795	chr12:64935886-64935887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544824673	chr12:64935898-64935899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10878188	chr12:64935978-64935979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527342924	chr12:64935984-64935985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73315599	chr12:64935995-64935996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560840193	chr12:64936006-64936007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530033000	chr12:64936034-64936035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550035549	chr12:64936076-64936077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569781115	chr12:64936096-64936097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377439180	chr12:64936101-64936102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532331108	chr12:64936138-64936139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531770786	chr12:64936147-64936148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551623348	chr12:64936175-64936176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571416551	chr12:64936308-64936309	Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145331148	chr12:64936386-64936387	Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183590174	chr12:64936388-64936389	Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567285648	chr12:64936453-64936454	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs536576415	chr12:64936541-64936542	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs556793117	chr12:64936544-64936545	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs576601325	chr12:64936608-64936609	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545595594	chr12:64936635-64936636	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559150621	chr12:64936657-64936658	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572196309	chr12:64936675-64936676	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112903038	chr12:64936680-64936681	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs560902444	chr12:64936685-64936686	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs529671872	chr12:64936692-64936693	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs543397077	chr12:64936699-64936700	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs563588196	chr12:64936720-64936721	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532263311	chr12:64936732-64936733	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs552348767	chr12:64936735-64936736	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565510360	chr12:64936755-64936756	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs527795477	chr12:64936775-64936776	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111726968	chr12:64936779-64936780	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576337100	chr12:64936780-64936781	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs61933869	chr12:64936783-64936784	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs199754632	chr12:64936804-64936805	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561180358	chr12:64936825-64936826	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542182776	chr12:64936846-64936847	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs562290494	chr12:64936848-64936849	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536642003	chr12:64936856-64936857	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549868498	chr12:64936877-64936878	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527976236	chr12:64936909-64936910	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547732985	chr12:64936930-64936931	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571027944	chr12:64936951-64936952	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533321082	chr12:64936972-64936973	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113710485	chr12:64936974-64936975	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64927800-64938600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:64931400-64944800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:64932400-64938600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:64936000-64936400	Enhancers	Osteobl	bone
5	chr12:64936000-64936800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:64936200-64936400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:64936200-64936400	Enhancers	Brain Cingulate Gyrus	brain
8	chr12:64936200-64936800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:64936400-64936600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr12:64936400-64936600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr12:64936400-64938600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:64936600-64937200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:64937000-64937200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr12:64937000-64937400	Active TSS	HSMM	muscle
15	chr12:64937200-64937400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr12:64937800-64938000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr12:64938000-64939000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:64938000-64939200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:64938000-64939600	Enhancers	Brain Germinal Matrix	brain
20	chr12:64938200-64938600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:64938200-64939000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:64938200-64939600	Enhancers	Fetal Muscle Leg	muscle
23	chr12:64938400-64938800	Enhancers	Fetal Brain Female	brain
24	chr12:64938400-64939000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:64938400-64939000	Enhancers	Brain Substantia Nigra	brain

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