Variant report

Variant	esv3488352
Chromosome Location	chr12:66791915-66794170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66774160..66776301-chr12:66791515..66793936,2	MCF-7	breast:
2	chr12:66531464..66533263-chr12:66791521..66794066,2	K562	blood:
3	chr12:66787772..66790243-chr12:66792913..66794848,2	MCF-7	breast:
4	chr12:66791504..66793937-chr12:66803050..66804575,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155957	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191208357	chr12:66791928-66791929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10784526	chr12:66791938-66791939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373635418	chr12:66791971-66791972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377429952	chr12:66791973-66791974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75580937	chr12:66792036-66792037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184010541	chr12:66792069-66792070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186904638	chr12:66792080-66792081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191736122	chr12:66792109-66792110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538284647	chr12:66792114-66792115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs137912822	chr12:66792134-66792135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577926088	chr12:66792135-66792136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540149990	chr12:66792136-66792137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183317808	chr12:66792142-66792143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554258939	chr12:66792264-66792265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573530771	chr12:66792433-66792434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142481647	chr12:66792524-66792525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76918292	chr12:66792661-66792662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187070091	chr12:66792662-66792663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111553774	chr12:66792693-66792694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191511122	chr12:66792716-66792717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552383307	chr12:66792746-66792747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78159965	chr12:66792817-66792818	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547339917	chr12:66792835-66792836	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113191908	chr12:66792846-66792847	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75329701	chr12:66792850-66792851	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547869698	chr12:66792851-66792852	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533079494	chr12:66792880-66792881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549592863	chr12:66792881-66792882	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567680393	chr12:66793000-66793001	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569383775	chr12:66793001-66793002	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182217809	chr12:66793022-66793023	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574323250	chr12:66793046-66793047	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570270390	chr12:66793137-66793138	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533910044	chr12:66793163-66793164	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553685920	chr12:66793267-66793268	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573589492	chr12:66793274-66793275	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542461174	chr12:66793316-66793317	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73315112	chr12:66793317-66793318	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs77393669	chr12:66793356-66793357	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544793600	chr12:66793365-66793366	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564967158	chr12:66793396-66793397	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527314559	chr12:66793399-66793400	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541016522	chr12:66793400-66793401	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560810877	chr12:66793433-66793434	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs74555717	chr12:66793441-66793442	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186644535	chr12:66793449-66793450	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs386763836	chr12:66793473-66793474	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531904165	chr12:66793474-66793475	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542945020	chr12:66793492-66793493	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149678002	chr12:66793513-66793514	Weak transcription Enhancers Flanking 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
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
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
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
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66710200-66792800	Weak transcription	Fetal Kidney	kidney
2	chr12:66738000-66792800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:66775200-66793000	Weak transcription	Esophagus	oesophagus
4	chr12:66780800-66792800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:66781400-66792000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:66781600-66792800	Weak transcription	Adipose Nuclei	Adipose
7	chr12:66782200-66792800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:66782800-66812600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:66784200-66796000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:66786200-66792600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:66786200-66792600	Weak transcription	Brain Germinal Matrix	brain
12	chr12:66786200-66801000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:66786200-66801200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:66786400-66801200	Weak transcription	Placenta	Placenta
15	chr12:66786600-66803000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:66789200-66794000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:66791000-66792000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:66791000-66794800	Enhancers	Fetal Brain Male	brain
19	chr12:66791400-66792000	Enhancers	NHDF-Ad	bronchial
20	chr12:66791600-66792000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:66791600-66792200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:66791600-66793600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:66791800-66792800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr12:66791800-66793200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:66791800-66793800	Enhancers	Fetal Brain Female	brain
26	chr12:66792000-66792200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr12:66792000-66793200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:66792000-66798600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:66792000-66799000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:66792200-66792600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:66792600-66793000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:66792600-66793000	Enhancers	HSMM	muscle
33	chr12:66792600-66793400	Enhancers	Brain Germinal Matrix	brain
34	chr12:66792600-66794200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr12:66792800-66793000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
36	chr12:66792800-66793000	Enhancers	Stomach Smooth Muscle	stomach
37	chr12:66792800-66793000	Enhancers	Spleen	Spleen
38	chr12:66792800-66793200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:66792800-66793200	Enhancers	Brain Anterior Caudate	brain
40	chr12:66792800-66793200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:66792800-66793600	Enhancers	Adipose Nuclei	Adipose
42	chr12:66792800-66793800	Enhancers	Fetal Kidney	kidney
43	chr12:66792800-66794000	Enhancers	Fetal Heart	heart
44	chr12:66792800-66794200	Enhancers	Right Atrium	heart
45	chr12:66792800-66794400	Enhancers	Fetal Stomach	stomach
46	chr12:66792800-66794400	Enhancers	Rectal Smooth Muscle	rectum
47	chr12:66792800-66794600	Enhancers	Colon Smooth Muscle	Colon
48	chr12:66793000-66793200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:66793000-66793200	Enhancers	Esophagus	oesophagus
50	chr12:66793000-66793200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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