Variant report

Variant	esv2762986
Chromosome Location	chr12:67409191-67413365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67405670..67407679-chr12:67409417..67411266,2	K562	blood:
2	chr12:67405871..67408664-chr12:67412311..67414518,2	MCF-7	breast:
3	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
4	chr12:67408467..67411253-chr12:67422516..67424188,2	K562	blood:

Extended variants
information (count: 163 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs774398	chr12:67409191-67409192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577360479	chr12:67409267-67409268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544970089	chr12:67409375-67409376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563130381	chr12:67409395-67409396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148757623	chr12:67409429-67409430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111305230	chr12:67409432-67409433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542612637	chr12:67409457-67409458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75528883	chr12:67409483-67409484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10128955	chr12:67409527-67409528	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540305721	chr12:67409579-67409580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537695824	chr12:67409610-67409611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562237234	chr12:67409619-67409620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557810629	chr12:67409639-67409640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143259598	chr12:67409640-67409641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187594195	chr12:67409649-67409650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147376061	chr12:67409700-67409701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530050769	chr12:67409793-67409794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76692111	chr12:67409801-67409802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368780593	chr12:67409853-67409854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191048275	chr12:67409876-67409877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183277327	chr12:67409918-67409919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7965522	chr12:67409929-67409930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs370733807	chr12:67409976-67409977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570962164	chr12:67409980-67409981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114197850	chr12:67409988-67409989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs118122076	chr12:67410000-67410001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs774397	chr12:67410013-67410014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374647118	chr12:67410076-67410077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139594157	chr12:67410085-67410086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544561180	chr12:67410086-67410087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187550597	chr12:67410092-67410093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572786372	chr12:67410093-67410094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539998350	chr12:67410107-67410108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564945967	chr12:67410118-67410119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12579201	chr12:67410122-67410123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532183183	chr12:67410166-67410167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543968637	chr12:67410180-67410181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562320405	chr12:67410215-67410216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529971907	chr12:67410216-67410217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548457087	chr12:67410217-67410218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566800644	chr12:67410233-67410234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192192389	chr12:67410248-67410249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79254238	chr12:67410263-67410264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570926430	chr12:67410279-67410280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538465360	chr12:67410296-67410297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185102271	chr12:67410326-67410327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568652347	chr12:67410350-67410351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188370729	chr12:67410379-67410380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147554135	chr12:67410381-67410382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577337651	chr12:67410424-67410425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67392600-67411800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:67397000-67412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67407200-67409800	Enhancers	Colon Smooth Muscle	Colon
4	chr12:67407200-67410400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:67407400-67409800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:67407400-67409800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:67407400-67409800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:67407600-67409600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:67407600-67409800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:67407600-67409800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:67407600-67410000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:67407800-67409600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:67408000-67409800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:67408200-67410200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:67408400-67409400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:67408400-67409400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:67408400-67411800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:67408600-67412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:67409200-67409600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr12:67409400-67409800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:67409400-67409800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:67409400-67409800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:67409400-67409800	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:67409400-67410200	Enhancers	Fetal Brain Male	brain
25	chr12:67409600-67409800	Enhancers	Brain Germinal Matrix	brain
26	chr12:67409600-67409800	Enhancers	Right Atrium	heart
27	chr12:67409600-67412400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:67409600-67412400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:67409800-67411600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:67409800-67411600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:67409800-67411800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:67409800-67411800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:67409800-67411800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:67409800-67412200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:67409800-67412200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:67409800-67412400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:67409800-67412400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:67409800-67412800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:67409800-67420800	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:67409800-67420800	Weak transcription	Right Atrium	heart
41	chr12:67410000-67411800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:67410200-67412600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:67410200-67412600	Weak transcription	Fetal Brain Male	brain
44	chr12:67410400-67411400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:67410600-67410800	Enhancers	Brain Germinal Matrix	brain
46	chr12:67410800-67412600	Weak transcription	Brain Germinal Matrix	brain
47	chr12:67411400-67412800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:67411600-67413200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr12:67411600-67413400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr12:67411800-67412000	Enhancers	HUES6 Cell Line	embryonic stem cell

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