Variant report

Variant	esv1803717
Chromosome Location	chr12:64250221-64261249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64254678..64258025-chr12:64259314..64262432,3	MCF-7	breast:
2	chr12:64257945..64259859-chr12:64259892..64262492,3	MCF-7	breast:
3	chr12:64257945..64259859-chr12:64259892..64262492,3	MCF-7	breast:
4	chr12:64248653..64250464-chr12:64256025..64258029,2	MCF-7	breast:
5	chr12:64248653..64250464-chr12:64256025..64258029,2	MCF-7	breast:
6	chr12:64243148..64249002-chr12:64249405..64253780,7	MCF-7	breast:
7	chr12:64238158..64239661-chr12:64250605..64253293,2	MCF-7	breast:
8	chr12:64257915..64259746-chr12:64264033..64266487,2	K562	blood:
9	chr12:64259856..64261721-chr12:64265461..64267447,2	MCF-7	breast:
10	chr12:64260075..64262066-chr12:64596655..64599026,2	MCF-7	breast:
11	chr12:64240146..64242509-chr12:64254956..64256783,2	MCF-7	breast:
12	chr12:64257643..64259888-chr12:64403526..64405520,2	MCF-7	breast:
13	chr12:64254946..64256892-chr12:64282588..64284962,2	MCF-7	breast:
14	chr12:64254678..64258025-chr12:64259314..64262432,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196935	chromatin interactions
ENSG00000242087	chromatin interactions
ENSG00000212298	chromatin interactions

Extended variants
information (count: 351 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192496731	chr12:64250227-64250228	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143672076	chr12:64250231-64250232	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73126620	chr12:64250318-64250319	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113895142	chr12:64250326-64250327	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4045071	chr12:64250334-64250335	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560940191	chr12:64250386-64250387	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377580618	chr12:64250390-64250391	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529934370	chr12:64250409-64250410	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4045072	chr12:64250412-64250413	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2335884	chr12:64250448-64250449	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569420830	chr12:64250471-64250472	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148904816	chr12:64250496-64250497	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs398116516	chr12:64250497-64250498	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531725706	chr12:64250559-64250560	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551806508	chr12:64250563-64250564	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147192376	chr12:64250600-64250601	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74740754	chr12:64250669-64250670	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554311223	chr12:64250670-64250671	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140615252	chr12:64250672-64250673	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536880481	chr12:64250683-64250684	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34520774	chr12:64250716-64250717	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7310575	chr12:64250762-64250763	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575773736	chr12:64250842-64250843	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114570325	chr12:64250848-64250849	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs59666761	chr12:64250869-64250870	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs9738559	chr12:64250895-64250896	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs58561193	chr12:64250910-64250911	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs397825354	chr12:64250911-64250912	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571982069	chr12:64250932-64250933	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540952173	chr12:64250959-64250960	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183804604	chr12:64250963-64250964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561262152	chr12:64250977-64250978	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547101697	chr12:64251016-64251017	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574543149	chr12:64251030-64251031	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143740880	chr12:64251041-64251042	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112870641	chr12:64251079-64251080	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534555383	chr12:64251081-64251082	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534831987	chr12:64251086-64251087	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183332371	chr12:64251161-64251162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531843445	chr12:64251178-64251179	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188789213	chr12:64251184-64251185	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs58322492	chr12:64251187-64251188	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192929959	chr12:64251221-64251222	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182426075	chr12:64251230-64251231	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537303824	chr12:64251231-64251232	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs536438586	chr12:64251247-64251248	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187017974	chr12:64251298-64251299	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs148709931	chr12:64251338-64251339	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538369433	chr12:64251343-64251344	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576762559	chr12:64251410-64251411	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	21364760	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:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64240800-64256000	Weak transcription	Small Intestine	intestine
2	chr12:64241000-64251800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:64241000-64255600	Weak transcription	Left Ventricle	heart
4	chr12:64241000-64256000	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:64241000-64256000	Weak transcription	HSMM	muscle
6	chr12:64241000-64257200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:64241000-64261200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:64241000-64268800	Weak transcription	Lung	lung
9	chr12:64241000-64278800	Weak transcription	Fetal Stomach	stomach
10	chr12:64243000-64251200	Weak transcription	NHLF	lung
11	chr12:64243400-64263000	Weak transcription	NHEK	skin
12	chr12:64243600-64256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:64243800-64251400	Weak transcription	Osteobl	bone
14	chr12:64244000-64250400	Weak transcription	Hela-S3	cervix
15	chr12:64244000-64251600	Weak transcription	HMEC	breast
16	chr12:64244000-64256000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:64244000-64263600	Weak transcription	Fetal Lung	lung
18	chr12:64244200-64250600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:64244200-64251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:64244200-64251600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:64244400-64251200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:64244400-64256000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:64244600-64251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:64244800-64255800	Weak transcription	Brain Anterior Caudate	brain
25	chr12:64246200-64250800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:64246200-64254600	Weak transcription	Pancreas	Pancrea
27	chr12:64246200-64286400	Weak transcription	Fetal Brain Female	brain
28	chr12:64246400-64253400	Weak transcription	Brain Germinal Matrix	brain
29	chr12:64246400-64256000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:64246400-64256200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:64247600-64251600	Weak transcription	HepG2	liver
32	chr12:64247600-64255200	Weak transcription	Ovary	ovary
33	chr12:64247800-64251600	Weak transcription	Fetal Intestine Small	intestine
34	chr12:64247800-64257400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:64247800-64268200	Weak transcription	Fetal Brain Male	brain
36	chr12:64248000-64251400	Weak transcription	Fetal Intestine Large	intestine
37	chr12:64248000-64256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:64248000-64256200	Weak transcription	Fetal Kidney	kidney
39	chr12:64248200-64253800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:64248800-64250400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:64248800-64255200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:64249200-64256200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:64249600-64252000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:64250200-64250800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:64250200-64250800	Enhancers	NHDF-Ad	bronchial
46	chr12:64250200-64251200	Enhancers	A549	lung
47	chr12:64250200-64287200	Weak transcription	Aorta	Aorta
48	chr12:64250400-64251000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:64250400-64251000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:64250400-64252400	Enhancers	Hela-S3	cervix

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