Variant report

Variant	nsv437765
Chromosome Location	chr12:83230454-83271933
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83217595..83219662-chr12:83240965..83242554,2	MCF-7	breast:
2	chr12:83268692..83270482-chr12:83272370..83274630,2	MCF-7	breast:
3	chr12:83260099..83262416-chr12:83272276..83274826,2	K562	blood:
4	chr12:83260146..83261680-chr12:83263667..83266615,2	MCF-7	breast:
5	chr12:83261344..83263422-chr12:83265254..83267423,2	K562	blood:
6	chr12:83261344..83263422-chr12:83265254..83267423,2	K562	blood:
7	chr12:83232613..83233339-chr16:75834473..75835318,2	MCF-7	breast:
8	chr12:83260146..83261680-chr12:83263667..83266615,2	MCF-7	breast:

No data

Extended variants
information (count: 1547 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1547 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6539694	chr12:83230454-83230455	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559643217	chr12:83230498-83230499	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545146732	chr12:83230536-83230537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144387615	chr12:83230606-83230607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529838089	chr12:83230636-83230637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191181083	chr12:83230741-83230742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570473699	chr12:83230760-83230761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530540236	chr12:83230763-83230764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551721097	chr12:83230773-83230774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184956936	chr12:83230882-83230883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539382076	chr12:83230891-83230892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528117544	chr12:83230921-83230922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546975978	chr12:83230930-83230931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141606460	chr12:83230933-83230934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536018490	chr12:83230971-83230972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557593384	chr12:83230979-83230980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542871762	chr12:83231008-83231009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569348528	chr12:83231009-83231010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539957344	chr12:83231010-83231011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150097910	chr12:83231059-83231060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189516794	chr12:83231079-83231080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540660610	chr12:83231083-83231084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116200665	chr12:83231098-83231099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574393663	chr12:83231117-83231118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555894123	chr12:83231140-83231141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563158149	chr12:83231186-83231187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138432637	chr12:83231214-83231215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545559257	chr12:83231226-83231227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141677168	chr12:83231227-83231228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75794525	chr12:83231242-83231243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546585979	chr12:83231246-83231247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547358970	chr12:83231280-83231281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568615243	chr12:83231329-83231330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73358271	chr12:83231350-83231351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs551164351	chr12:83231378-83231379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569461713	chr12:83231402-83231403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540082163	chr12:83231427-83231428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112547395	chr12:83231445-83231446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146218600	chr12:83231455-83231456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566963197	chr12:83231459-83231460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545054580	chr12:83231496-83231497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533892322	chr12:83231498-83231499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555753111	chr12:83231550-83231551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574355614	chr12:83231581-83231582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535347488	chr12:83231639-83231640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531059917	chr12:83231671-83231672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532960124	chr12:83231672-83231673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368571244	chr12:83231688-83231689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556864448	chr12:83231764-83231765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142567101	chr12:83231810-83231811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:714 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83196400-83250800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:83206600-83250000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:83206600-83255200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:83212400-83257000	Weak transcription	Gastric	stomach
5	chr12:83214200-83250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:83216800-83240000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:83226600-83234600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:83226800-83231200	Enhancers	Brain Substantia Nigra	brain
9	chr12:83227000-83232400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:83227200-83232600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:83227600-83231800	Weak transcription	Fetal Heart	heart
12	chr12:83227600-83231800	Weak transcription	Fetal Lung	lung
13	chr12:83228000-83241600	Weak transcription	Fetal Kidney	kidney
14	chr12:83229000-83231800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:83229000-83233600	Weak transcription	Fetal Stomach	stomach
16	chr12:83229000-83233800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:83229200-83236800	Enhancers	Brain Hippocampus Middle	brain
18	chr12:83229600-83231400	Enhancers	Brain Angular Gyrus	brain
19	chr12:83229600-83235200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:83229600-83252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:83229800-83231000	Weak transcription	NHDF-Ad	bronchial
22	chr12:83229800-83232000	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:83229800-83233800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:83230000-83232000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:83230000-83236800	Enhancers	Brain Cingulate Gyrus	brain
26	chr12:83230200-83232800	Weak transcription	Brain Anterior Caudate	brain
27	chr12:83230200-83233800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:83230400-83230800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:83230400-83231800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:83230400-83231800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:83230400-83231800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:83230800-83236400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:83231000-83231200	Enhancers	NHDF-Ad	bronchial
34	chr12:83231200-83231600	Weak transcription	NHDF-Ad	bronchial
35	chr12:83231200-83232200	Weak transcription	Brain Substantia Nigra	brain
36	chr12:83231400-83232200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr12:83231400-83232400	Weak transcription	Brain Angular Gyrus	brain
38	chr12:83231600-83232400	Enhancers	NHDF-Ad	bronchial
39	chr12:83231800-83232000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:83231800-83232200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:83231800-83232200	Enhancers	Adipose Nuclei	Adipose
42	chr12:83231800-83232400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:83231800-83233000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:83231800-83233000	Enhancers	Fetal Lung	lung
45	chr12:83231800-83233200	Enhancers	Fetal Heart	heart
46	chr12:83231800-83234200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr12:83232000-83232200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:83232000-83232200	Enhancers	HUVEC	blood vessel
49	chr12:83232000-83232400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:83232000-83232400	Enhancers	H1 Cell Line	embryonic stem cell

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