Variant report

Variant	esv3366814
Chromosome Location	chr12:85763446-85765469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALX1-2	chr12:85763589-85763622	XLOC_009820
2	lnc-ALX1-2	chr12:85763588-85763622	NONHSAT029751

Variant related genes	Relation type
KCNK1	miRNA target sites

Extended variants
information (count: 74 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182302731	chr12:85763536-85763537	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs573923426	chr12:85763555-85763556	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371506224	chr12:85763569-85763570	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561836614	chr12:85763580-85763581	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7137028	chr12:85763605-85763606	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551682366	chr12:85763712-85763713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143017290	chr12:85763735-85763736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148226843	chr12:85763756-85763757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531272502	chr12:85763760-85763761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552589913	chr12:85763797-85763798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570786458	chr12:85763864-85763865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187438090	chr12:85763894-85763895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546745072	chr12:85764090-85764091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200255512	chr12:85764125-85764126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190464826	chr12:85764127-85764128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535229849	chr12:85764148-85764149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200554925	chr12:85764149-85764150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532983869	chr12:85764150-85764151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374738658	chr12:85764197-85764198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374447285	chr12:85764198-85764199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12307342	chr12:85764199-85764200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7976744	chr12:85764203-85764204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs59131405	chr12:85764216-85764217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555598139	chr12:85764229-85764230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367681272	chr12:85764247-85764248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563454942	chr12:85764265-85764266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539374681	chr12:85764280-85764281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147368947	chr12:85764305-85764306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548443401	chr12:85764336-85764337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572714517	chr12:85764341-85764342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111980413	chr12:85764345-85764346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550687928	chr12:85764350-85764351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368836042	chr12:85764386-85764387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372201015	chr12:85764387-85764388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549405269	chr12:85764416-85764417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539525459	chr12:85764418-85764419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10718247	chr12:85764432-85764433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564946454	chr12:85764433-85764434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75557870	chr12:85764434-85764435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs63445563	chr12:85764446-85764447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61930617	chr12:85764449-85764450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111676700	chr12:85764520-85764521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115578793	chr12:85764525-85764526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138123078	chr12:85764529-85764530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185576381	chr12:85764580-85764581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117329073	chr12:85764596-85764597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143580685	chr12:85764662-85764663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150601062	chr12:85764690-85764691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547331559	chr12:85764694-85764695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190375613	chr12:85764711-85764712	Weak transcription	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
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
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	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
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85761600-85763800	Enhancers	Hela-S3	cervix
2	chr12:85763000-85763600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:85763000-85763600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:85763000-85763600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:85763000-85763600	Enhancers	Fetal Lung	lung
6	chr12:85763000-85763800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:85763200-85763600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:85763200-85763600	Enhancers	Fetal Kidney	kidney
9	chr12:85763400-85763600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:85763600-85764200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:85763600-85767800	Weak transcription	Fetal Kidney	kidney

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