Variant report

Variant	esv12590
Chromosome Location	chr12:83266497-83270119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:83260146..83261680-chr12:83263667..83266615,2	MCF-7	breast:
2	chr12:83261344..83263422-chr12:83265254..83267423,2	K562	blood:
3	chr12:83268692..83270482-chr12:83272370..83274630,2	MCF-7	breast:

Extended variants
information (count: 159 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs73360225	chr12:83266511-83266512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568804098	chr12:83266558-83266559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540124483	chr12:83266564-83266565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12316012	chr12:83266589-83266590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566685075	chr12:83266595-83266596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534141564	chr12:83266650-83266651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555413574	chr12:83266666-83266667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557526701	chr12:83266672-83266673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567400640	chr12:83266697-83266698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537995334	chr12:83266704-83266705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73360228	chr12:83266721-83266722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12316130	chr12:83266770-83266771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550076202	chr12:83266782-83266783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192020721	chr12:83266798-83266799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573544245	chr12:83266803-83266804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574063039	chr12:83266853-83266854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541037099	chr12:83266855-83266856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12317482	chr12:83266870-83266871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540404025	chr12:83266891-83266892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561896053	chr12:83266895-83266896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183343539	chr12:83266951-83266952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559344723	chr12:83266953-83266954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149173025	chr12:83266970-83266971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562460501	chr12:83266977-83266978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56329652	chr12:83266989-83266990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142938543	chr12:83266992-83266993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35177760	chr12:83266993-83266994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71068955	chr12:83267028-83267029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58661834	chr12:83267029-83267030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532799789	chr12:83267080-83267081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373779679	chr12:83267102-83267103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201818590	chr12:83267150-83267151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551625001	chr12:83267165-83267166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73360230	chr12:83267168-83267169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs147921396	chr12:83267187-83267188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189248672	chr12:83267231-83267232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61271434	chr12:83267232-83267233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs59508042	chr12:83267269-83267270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530644037	chr12:83267276-83267277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556390961	chr12:83267296-83267297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549131326	chr12:83267355-83267356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193081100	chr12:83267432-83267433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183090734	chr12:83267470-83267471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186663839	chr12:83267472-83267473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573156874	chr12:83267492-83267493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540576561	chr12:83267493-83267494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113222507	chr12:83267542-83267543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551638621	chr12:83267564-83267565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567236504	chr12:83267567-83267568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191159230	chr12:83267585-83267586	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
2	chr12:83252200-83273000	Weak transcription	Pancreas	Pancrea
3	chr12:83261000-83268400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:83262200-83272800	Weak transcription	Fetal Lung	lung
5	chr12:83262200-83278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:83263600-83269400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:83264000-83267800	Enhancers	Colon Smooth Muscle	Colon
8	chr12:83264200-83267200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:83264200-83268200	Enhancers	Brain Anterior Caudate	brain
10	chr12:83264600-83267200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:83264600-83268200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:83264600-83278000	Weak transcription	Small Intestine	intestine
13	chr12:83264800-83267600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:83264800-83273400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:83264800-83277600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:83264800-83277800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:83265000-83267600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:83265000-83267800	Enhancers	Fetal Brain Male	brain
19	chr12:83265000-83269000	Enhancers	Brain Hippocampus Middle	brain
20	chr12:83265000-83269800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:83265000-83269800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:83265000-83271600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:83265200-83267800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:83265200-83268000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:83265200-83274200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:83265400-83267800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:83265600-83271800	Weak transcription	Fetal Heart	heart
28	chr12:83265600-83274200	Weak transcription	Fetal Brain Female	brain
29	chr12:83265800-83270800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:83266000-83268200	Enhancers	Fetal Stomach	stomach
31	chr12:83266200-83266800	Weak transcription	Brain Substantia Nigra	brain
32	chr12:83266200-83267400	Weak transcription	Brain Angular Gyrus	brain
33	chr12:83266200-83267600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:83266200-83268400	Enhancers	Brain Germinal Matrix	brain
35	chr12:83266200-83271200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:83266200-83272000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:83266800-83269600	Enhancers	Brain Substantia Nigra	brain
38	chr12:83267200-83267800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:83267200-83269400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:83267400-83269600	Enhancers	Brain Angular Gyrus	brain
41	chr12:83267600-83268200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:83267600-83269200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:83267600-83269400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:83267800-83268000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:83267800-83268000	Flanking Active TSS	Fetal Brain Male	brain
46	chr12:83267800-83268200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:83267800-83269200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:83267800-83271000	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:83268000-83268400	Enhancers	Fetal Brain Male	brain
50	chr12:83268000-83269000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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