Variant report

Variant	nsv526076
Chromosome Location	chr12:66541306-66546100
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:66541034..66542734-chr12:66544918..66547664,2	K562	blood:
2	chr12:66537078..66538874-chr12:66541977..66543541,2	K562	blood:
3	chr12:66539518..66541895-chr12:66542239..66543781,2	K562	blood:
4	chr12:66543718..66546794-chr12:66562322..66564805,3	MCF-7	breast:
5	chr12:66538639..66542023-chr12:66544775..66548196,3	MCF-7	breast:
6	chr12:66539518..66541895-chr12:66542239..66543781,2	K562	blood:
7	chr12:66538639..66542023-chr12:66544775..66548196,3	MCF-7	breast:
8	chr12:66512241..66514451-chr12:66541871..66543985,2	K562	blood:
9	chr12:66539081..66541895-chr12:66541952..66543781,2	K562	blood:
10	chr12:66538882..66543480-chr12:66561851..66566115,6	MCF-7	breast:
11	chr12:66541034..66542734-chr12:66544918..66547664,2	K562	blood:
12	chr12:66543201..66545689-chr12:66563308..66565111,3	MCF-7	breast:
13	chr12:66539081..66541895-chr12:66541952..66543781,2	K562	blood:
14	chr12:66523523..66525670-chr12:66539584..66541563,2	MCF-7	breast:
15	chr12:66536884..66539272-chr12:66539698..66542601,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239335	chromatin interactions
ENSG00000155957	chromatin interactions
ENSG00000139233	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs11176060	chr12:66541306-66541307	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537407397	chr12:66541336-66541337	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs190603499	chr12:66541363-66541364	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs61927085	chr12:66541439-66541440	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs114540879	chr12:66541460-66541461	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs192971977	chr12:66541518-66541519	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs546723857	chr12:66541604-66541605	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34144312	chr12:66541624-66541625	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566436430	chr12:66541625-66541626	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185198111	chr12:66541666-66541667	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369785914	chr12:66541671-66541672	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530724691	chr12:66541680-66541681	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561818414	chr12:66541681-66541682	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184521392	chr12:66541688-66541689	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189235202	chr12:66541691-66541692	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374426385	chr12:66541720-66541721	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530426535	chr12:66541724-66541725	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377472603	chr12:66541738-66541739	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368938621	chr12:66541765-66541766	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544152868	chr12:66541777-66541778	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563840499	chr12:66541795-66541796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77925378	chr12:66541820-66541821	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115038873	chr12:66541844-66541845	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188828733	chr12:66541868-66541869	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528661342	chr12:66541875-66541876	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548281453	chr12:66541876-66541877	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376406411	chr12:66541894-66541895	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535478453	chr12:66541943-66541944	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568502925	chr12:66541960-66541961	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181246967	chr12:66542007-66542008	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148706035	chr12:66542034-66542035	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142294079	chr12:66542035-66542036	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557297043	chr12:66542078-66542079	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12582384	chr12:66542153-66542154	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs183832163	chr12:66542156-66542157	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188163057	chr12:66542210-66542211	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573122048	chr12:66542237-66542238	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116371980	chr12:66542249-66542250	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77974709	chr12:66542250-66542251	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555178456	chr12:66542254-66542255	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12581033	chr12:66542283-66542284	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs367733833	chr12:66542360-66542361	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543884775	chr12:66542384-66542385	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564134209	chr12:66542425-66542426	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532748541	chr12:66542451-66542452	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs180820659	chr12:66542458-66542459	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs17825931	chr12:66542503-66542504	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187376287	chr12:66542546-66542547	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548731603	chr12:66542559-66542560	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562064318	chr12:66542574-66542575	Weak transcription Strong transcription Genic enhancers Enhancers	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
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
Cancer	20164920	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66525400-66562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:66525600-66549000	Weak transcription	Colonic Mucosa	Colon
3	chr12:66525600-66552400	Weak transcription	Brain Angular Gyrus	brain
4	chr12:66525600-66561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:66526600-66557200	Weak transcription	Psoas Muscle	Psoas
6	chr12:66527000-66554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:66530000-66544000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:66530000-66547200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:66532600-66542600	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:66533800-66544000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:66533800-66545000	Weak transcription	Pancreas	Pancrea
12	chr12:66533800-66548000	Weak transcription	Brain Anterior Caudate	brain
13	chr12:66533800-66548400	Weak transcription	Right Atrium	heart
14	chr12:66533800-66553000	Weak transcription	Aorta	Aorta
15	chr12:66533800-66553000	Weak transcription	Spleen	Spleen
16	chr12:66533800-66553800	Weak transcription	Esophagus	oesophagus
17	chr12:66533800-66554400	Weak transcription	Lung	lung
18	chr12:66534000-66547800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:66534600-66541600	Weak transcription	Brain Germinal Matrix	brain
20	chr12:66534600-66544000	Weak transcription	Fetal Stomach	stomach
21	chr12:66534600-66545400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:66534600-66555600	Weak transcription	Small Intestine	intestine
23	chr12:66534800-66541600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:66534800-66552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:66535000-66542800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:66535800-66545800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:66535800-66546800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr12:66536200-66541400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:66536200-66553600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:66536200-66558000	Weak transcription	Fetal Brain Female	brain
31	chr12:66536400-66542600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:66536400-66542800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr12:66536400-66543400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:66536400-66543400	Weak transcription	K562	blood
35	chr12:66536400-66547000	Weak transcription	NHLF	lung
36	chr12:66536400-66547200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:66536400-66548400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:66536400-66549000	Weak transcription	Gastric	stomach
39	chr12:66536400-66552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:66536400-66553000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:66536400-66556200	Weak transcription	Right Ventricle	heart
42	chr12:66536400-66557600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:66536400-66562400	Weak transcription	HMEC	breast
44	chr12:66536600-66547800	Weak transcription	Brain Substantia Nigra	brain
45	chr12:66536800-66546800	Weak transcription	NHDF-Ad	bronchial
46	chr12:66536800-66552800	Weak transcription	HSMMtube	muscle
47	chr12:66536800-66556200	Weak transcription	Left Ventricle	heart
48	chr12:66537000-66541800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr12:66537000-66542600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:66537000-66543800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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