Variant report

Variant	nsv1053249
Chromosome Location	chr12:67395538-67417828
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67405871..67408664-chr12:67412311..67414518,2	MCF-7	breast:
2	chr12:67408467..67411253-chr12:67422516..67424188,2	K562	blood:
3	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
4	chr12:67405670..67407679-chr12:67409417..67411266,2	K562	blood:
5	chr12:67296029..67298947-chr12:67402634..67404774,2	K562	blood:
6	chr12:67416068..67418354-chr12:67426398..67428133,2	MCF-7	breast:
7	chr12:67405670..67407679-chr12:67409417..67411266,2	K562	blood:
8	chr12:67405871..67408664-chr12:67412311..67414518,2	MCF-7	breast:
9	chr12:67390978..67393668-chr12:67401763..67404161,2	MCF-7	breast:

No data

Extended variants
information (count: 792 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142542822	chr12:67395620-67395621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150958876	chr12:67395621-67395622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560762339	chr12:67395644-67395645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536782198	chr12:67395702-67395703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138728043	chr12:67395730-67395731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183269287	chr12:67395800-67395801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76427920	chr12:67395812-67395813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76820814	chr12:67395834-67395835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571381099	chr12:67395859-67395860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17780712	chr12:67395928-67395929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539433172	chr12:67395946-67395947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117148787	chr12:67395947-67395948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569066309	chr12:67395970-67395971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187554977	chr12:67395976-67395977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554853111	chr12:67395981-67395982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192950221	chr12:67395998-67395999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542822632	chr12:67396014-67396015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533950164	chr12:67396026-67396027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185156492	chr12:67396038-67396039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576805814	chr12:67396044-67396045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74783021	chr12:67396050-67396051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188126900	chr12:67396065-67396066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575022978	chr12:67396126-67396127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377156325	chr12:67396162-67396163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12316337	chr12:67396168-67396169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140705911	chr12:67396195-67396196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11176527	chr12:67396219-67396220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10878550	chr12:67396230-67396231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564899647	chr12:67396232-67396233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150099041	chr12:67396251-67396252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550690190	chr12:67396298-67396299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192870013	chr12:67396320-67396321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529911842	chr12:67396342-67396343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34834021	chr12:67396435-67396436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547949074	chr12:67396444-67396445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566453920	chr12:67396507-67396508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183966345	chr12:67396540-67396541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77062149	chr12:67396546-67396547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs398076713	chr12:67396550-67396551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552039153	chr12:67396571-67396572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75074717	chr12:67396578-67396579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537850707	chr12:67396622-67396623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141468488	chr12:67396642-67396643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59994787	chr12:67396657-67396658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113771033	chr12:67396665-67396666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75274410	chr12:67396676-67396677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577655271	chr12:67396678-67396679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536062264	chr12:67396822-67396823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554379146	chr12:67396828-67396829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572652946	chr12:67396842-67396843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67392600-67411800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:67394200-67397000	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:67394400-67397000	Enhancers	Colon Smooth Muscle	Colon
4	chr12:67394800-67395600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:67395200-67397000	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr12:67395400-67395600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:67395400-67396000	Weak transcription	HMEC	breast
8	chr12:67395600-67400200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:67396000-67397000	Enhancers	HMEC	breast
10	chr12:67396600-67396800	Enhancers	A549	lung
11	chr12:67396600-67397000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:67396600-67397000	Enhancers	NHEK	skin
13	chr12:67397000-67407200	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:67397000-67412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:67400200-67400800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:67400200-67401000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:67400400-67401000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:67406200-67406800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:67406800-67408200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:67407200-67409800	Enhancers	Colon Smooth Muscle	Colon
21	chr12:67407200-67410400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:67407400-67408400	Enhancers	Rectal Smooth Muscle	rectum
23	chr12:67407400-67409800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:67407400-67409800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:67407400-67409800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:67407600-67409600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:67407600-67409800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:67407600-67409800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:67407600-67410000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:67407800-67409600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:67408000-67409800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:67408200-67408400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr12:67408200-67408400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr12:67408200-67408600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:67408200-67410200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:67408400-67409400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:67408400-67409400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:67408400-67411800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:67408600-67412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:67409200-67409600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr12:67409400-67409800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:67409400-67409800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:67409400-67409800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr12:67409400-67409800	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:67409400-67410200	Enhancers	Fetal Brain Male	brain
46	chr12:67409600-67409800	Enhancers	Brain Germinal Matrix	brain
47	chr12:67409600-67409800	Enhancers	Right Atrium	heart
48	chr12:67409600-67412400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:67409600-67412400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:67409800-67411600	Weak transcription	H9 Cell Line	embryonic stem cell

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