Variant report

Variant	esv3449797
Chromosome Location	chr12:73069485-73071383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:73066407..73068991-chr12:73070185..73072919,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562856205	chr12:73069488-73069489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543509101	chr12:73069492-73069493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186984998	chr12:73069509-73069510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542034558	chr12:73069528-73069529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560771268	chr12:73069537-73069538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11179317	chr12:73069563-73069564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs552750420	chr12:73069568-73069569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113557251	chr12:73069590-73069591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531747973	chr12:73069597-73069598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12819664	chr12:73069622-73069623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550067255	chr12:73069637-73069638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12819678	chr12:73069642-73069643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12826160	chr12:73069721-73069722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148029462	chr12:73069782-73069783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180712716	chr12:73069801-73069802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547262345	chr12:73069855-73069856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12301038	chr12:73069897-73069898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185596187	chr12:73069989-73069990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557437333	chr12:73070003-73070004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575595156	chr12:73070036-73070037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190054402	chr12:73070076-73070077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58327749	chr12:73070140-73070141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs58249836	chr12:73070150-73070151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542620863	chr12:73070188-73070189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7976791	chr12:73070193-73070194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs572413785	chr12:73070199-73070200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560516897	chr12:73070205-73070206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201951483	chr12:73070207-73070208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57194424	chr12:73070208-73070209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200820128	chr12:73070228-73070229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28516786	chr12:73070230-73070231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373293494	chr12:73070338-73070339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11336107	chr12:73070364-73070365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142523364	chr12:73070537-73070538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78499319	chr12:73070546-73070547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs172575	chr12:73070561-73070562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117039446	chr12:73070602-73070603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550179174	chr12:73070657-73070658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538756152	chr12:73070662-73070663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369449705	chr12:73070686-73070687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562149374	chr12:73070688-73070689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529167277	chr12:73070747-73070748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188656045	chr12:73070843-73070844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374192240	chr12:73070849-73070850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191399768	chr12:73070919-73070920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115181769	chr12:73070921-73070922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569388731	chr12:73070962-73070963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536782606	chr12:73071056-73071057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553098533	chr12:73071090-73071091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538648568	chr12:73071148-73071149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Colorectal cancer	16272173	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
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73067200-73071000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:73067400-73071400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:73067600-73069800	Enhancers	Primary B cells from cord blood	blood
4	chr12:73069000-73070800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:73069400-73069600	Enhancers	Liver	Liver
6	chr12:73069600-73070600	Weak transcription	Liver	Liver
7	chr12:73069800-73071200	Weak transcription	Primary B cells from cord blood	blood
8	chr12:73070400-73071400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:73070400-73073400	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:73070400-73073400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:73070600-73071200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:73070600-73071600	Enhancers	Liver	Liver
13	chr12:73070800-73071400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:73070800-73072200	Enhancers	Fetal Intestine Large	intestine
15	chr12:73070800-73072400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:73071000-73071200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:73071000-73071600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:73071000-73072400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:73071000-73072400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:73071200-73071600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:73071200-73071800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:73071200-73071800	Enhancers	Primary B cells from cord blood	blood
23	chr12:73071200-73072000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:73071200-73072800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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