Variant report

Variant	nsv560382
Chromosome Location	chr12:117641949-117650873
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	chr12:117649820..117651043-chr12:118274697..118275665,4	K562	blood:
2	chr12:117650558..117651087-chr12:118025216..118026112,2	K562	blood:
3	chr12:117650216..117651027-chr12:117908286..117909137,2	K562	blood:
4	chr12:117638881..117640489-chr12:117642610..117644525,2	K562	blood:
5	chr12:117650139..117651011-chr12:117839641..117840548,2	K562	blood:
6	chr12:117649962..117651061-chr12:118287430..118288439,7	MCF-7	breast:
7	chr12:117650128..117651136-chr12:117669197..117670289,6	MCF-7	breast:
8	chr12:117650460..117651090-chr12:117804541..117805158,2	MCF-7	breast:
9	chr12:117650494..117652487-chr12:118273816..118276438,2	MCF-7	breast:
10	chr12:117650181..117651091-chr12:117669166..117670178,4	MCF-7	breast:
11	chr12:117650099..117650656-chr12:118292401..118292902,2	K562	blood:
12	chr12:117650520..117651052-chr12:117663613..117664124,2	K562	blood:
13	chr12:117650089..117651054-chr12:118109578..118110427,4	MCF-7	breast:
14	chr12:117650101..117650628-chr12:118109086..118109729,2	K562	blood:
15	chr12:117650523..117651024-chr12:118295130..118295741,2	K562	blood:

No data

Extended variants
information (count: 350 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369015977	chr12:117641958-117641959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373484870	chr12:117642045-117642046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535649731	chr12:117642109-117642110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140513324	chr12:117642140-117642141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535204978	chr12:117642167-117642168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555317767	chr12:117642206-117642207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533094574	chr12:117642229-117642230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113976058	chr12:117642243-117642244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34251552	chr12:117642291-117642292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11392807	chr12:117642292-117642293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575150359	chr12:117642312-117642313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs58689904	chr12:117642313-117642314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375510967	chr12:117642319-117642320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7313396	chr12:117642377-117642378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs578216120	chr12:117642389-117642390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7301867	chr12:117642392-117642393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs77380019	chr12:117642399-117642400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80090327	chr12:117642400-117642401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59033534	chr12:117642421-117642422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560529794	chr12:117642429-117642430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529341940	chr12:117642435-117642436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549231034	chr12:117642500-117642501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184346593	chr12:117642538-117642539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562865125	chr12:117642542-117642543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531628960	chr12:117642551-117642552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550436111	chr12:117642580-117642581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569639402	chr12:117642584-117642585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529513807	chr12:117642587-117642588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539236846	chr12:117642592-117642593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546347108	chr12:117642594-117642595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549717556	chr12:117642612-117642613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141419716	chr12:117642621-117642622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566604692	chr12:117642640-117642641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115909537	chr12:117642646-117642647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116228461	chr12:117642651-117642652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575157146	chr12:117642670-117642671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111655773	chr12:117642689-117642690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566411995	chr12:117642729-117642730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191659522	chr12:117642807-117642808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149888200	chr12:117642871-117642872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578239837	chr12:117642972-117642973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540931004	chr12:117642984-117642985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531204245	chr12:117642989-117642990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554313517	chr12:117642992-117642993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537406209	chr12:117643012-117643013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77719511	chr12:117643052-117643053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562869387	chr12:117643067-117643068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531592302	chr12:117643078-117643079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143942612	chr12:117643085-117643086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372533994	chr12:117643088-117643089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117633600-117645000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:117642200-117648000	Weak transcription	Right Atrium	heart
3	chr12:117642800-117643000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:117645000-117645200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:117645000-117645200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:117645000-117646200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:117645000-117646400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:117645200-117645400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:117645200-117646200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:117645200-117655600	Weak transcription	NHEK	skin
11	chr12:117645400-117646400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:117646000-117647400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:117646200-117646600	Enhancers	Brain Hippocampus Middle	brain
14	chr12:117646200-117650800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:117646200-117650800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:117646400-117664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:117646600-117650600	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:117647000-117649200	Enhancers	Liver	Liver
19	chr12:117647200-117647400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr12:117647400-117648200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:117647600-117651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:117648200-117648600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:117648600-117650800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:117650600-117651000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:117650600-117651000	Enhancers	Brain Angular Gyrus	brain
26	chr12:117650600-117651000	Enhancers	Brain Substantia Nigra	brain
27	chr12:117650600-117651200	Enhancers	Brain Hippocampus Middle	brain
28	chr12:117650600-117651400	Enhancers	A549	lung
29	chr12:117650800-117651000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:117650800-117651200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:117650800-117651400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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