Variant report

Variant	nsv53492
Chromosome Location	chr12:117188688-117190963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117174714..117176386-chr12:117186480..117189521,3	MCF-7	breast:
2	chr12:117187713..117190765-chr12:117193491..117197822,3	K562	blood:
3	chr12:117189265..117191529-chr12:117194956..117197970,3	K562	blood:

Variant related genes	Relation type
ENSG00000135119	chromatin interactions
ENSG00000239374	chromatin interactions
ENSG00000111412	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376171238	chr12:117188692-117188693	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs550080863	chr12:117188696-117188697	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs370982600	chr12:117188709-117188710	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs67604448	chr12:117188711-117188712	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs369583636	chr12:117188712-117188713	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs36045826	chr12:117188713-117188714	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs368161151	chr12:117188714-117188715	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs386377851	chr12:117188720-117188721	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs144457693	chr12:117188731-117188732	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs528432098	chr12:117188758-117188759	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs548412849	chr12:117188791-117188792	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs183859117	chr12:117188809-117188810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs11611604	chr12:117188823-117188824	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189172523	chr12:117188880-117188881	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs563912994	chr12:117188935-117188936	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs147824017	chr12:117188936-117188937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538921301	chr12:117188954-117188955	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs370118416	chr12:117189014-117189015	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs558859066	chr12:117189028-117189029	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs149960706	chr12:117189065-117189066	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs534564530	chr12:117189078-117189079	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs554375890	chr12:117189162-117189163	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs574465247	chr12:117189176-117189177	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs192874885	chr12:117189186-117189187	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs557507689	chr12:117189213-117189214	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs145060332	chr12:117189226-117189227	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs546102542	chr12:117189247-117189248	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs536540988	chr12:117189269-117189270	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs537919030	chr12:117189271-117189272	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs375215754	chr12:117189272-117189273	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs528467946	chr12:117189302-117189303	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs542199304	chr12:117189349-117189350	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs185353736	chr12:117189395-117189396	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs188574589	chr12:117189398-117189399	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs11068171	chr12:117189453-117189454	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7953364	chr12:117189486-117189487	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532319394	chr12:117189489-117189490	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs191802242	chr12:117189521-117189522	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs576133822	chr12:117189555-117189556	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565939853	chr12:117189588-117189589	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7953594	chr12:117189641-117189642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183651341	chr12:117189651-117189652	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568089434	chr12:117189657-117189658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537133836	chr12:117189679-117189680	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs151179707	chr12:117189708-117189709	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10735095	chr12:117189732-117189733	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531070419	chr12:117189767-117189768	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539595524	chr12:117189787-117189788	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553295037	chr12:117189795-117189796	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11833084	chr12:117189850-117189851	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117176600-117197600	Weak transcription	Aorta	Aorta
2	chr12:117176600-117197800	Weak transcription	Right Atrium	heart
3	chr12:117176800-117197600	Weak transcription	Thymus	Thymus
4	chr12:117176800-117217400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:117177000-117209400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:117177000-117217400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:117177000-117224400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:117177200-117197600	Weak transcription	A549	lung
9	chr12:117177200-117216800	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:117177200-117221000	Weak transcription	Fetal Brain Male	brain
11	chr12:117177400-117225800	Weak transcription	HepG2	liver
12	chr12:117177600-117217000	Weak transcription	GM12878-XiMat	blood
13	chr12:117178000-117194400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:117179000-117191600	Weak transcription	Primary B cells from cord blood	blood
15	chr12:117179000-117197200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:117179000-117197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:117179000-117217200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:117179400-117191400	Weak transcription	Dnd41	blood
19	chr12:117179600-117198800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:117179800-117191800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:117180800-117197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:117181600-117194200	Strong transcription	Fetal Brain Female	brain
23	chr12:117182200-117190000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:117182800-117197800	Weak transcription	Fetal Stomach	stomach
25	chr12:117182800-117198000	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:117183400-117191600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:117183400-117191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:117186200-117197800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:117186600-117191800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:117187400-117192000	Weak transcription	NHLF	lung
31	chr12:117187600-117189200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:117187600-117192600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:117187800-117190400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:117188000-117188800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:117188000-117190000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:117188400-117190200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:117188400-117190600	Weak transcription	Fetal Thymus	thymus
38	chr12:117188400-117191400	Weak transcription	Brain Germinal Matrix	brain
39	chr12:117188400-117197400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:117188400-117217000	Weak transcription	Brain Angular Gyrus	brain
41	chr12:117188600-117189800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:117188600-117189800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:117188600-117190000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:117188600-117217000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:117188800-117189200	Enhancers	HUVEC	blood vessel
46	chr12:117188800-117189600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:117189200-117203400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:117189600-117192000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:117189800-117190200	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr12:117189800-117190200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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