Variant report

Variant	nsv528231
Chromosome Location	chr12:117877110-117879236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KSR2-1	chr12:117877771-117877976	l_736_chr12:117875575-117878382_testes
2	lnc-KSR2-1	chr12:117877994-117878140	l_736_chr12:117875575-117878382_testes
3	lnc-KSR2-1	chr12:117878150-117878382	l_736_chr12:117875575-117878382_testes
4	lnc-KSR2-1	chr12:117876765-117877302	l_736_chr12:117875575-117878382_testes

Extended variants
information (count: 94 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4767541	chr12:117877110-117877111	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79556673	chr12:117877135-117877136	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs139316472	chr12:117877143-117877144	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs540114045	chr12:117877208-117877209	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs553647802	chr12:117877212-117877213	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs573466425	chr12:117877228-117877229	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs375939605	chr12:117877233-117877234	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs61937199	chr12:117877248-117877249	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183852160	chr12:117877263-117877264	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs544248483	chr12:117877290-117877291	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs116229657	chr12:117877302-117877303	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs551733769	chr12:117877303-117877304	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs187782985	chr12:117877306-117877307	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs559167187	chr12:117877312-117877313	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528235886	chr12:117877323-117877324	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548272645	chr12:117877343-117877344	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561602230	chr12:117877350-117877351	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs193238358	chr12:117877351-117877352	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115424357	chr12:117877362-117877363	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570456660	chr12:117877391-117877392	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs571707221	chr12:117877394-117877395	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374917717	chr12:117877415-117877416	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547273436	chr12:117877431-117877432	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535149696	chr12:117877432-117877433	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs112297809	chr12:117877456-117877457	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535644381	chr12:117877476-117877477	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs41279104	chr12:117877485-117877486	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540916434	chr12:117877487-117877488	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs149999969	chr12:117877512-117877513	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569066832	chr12:117877520-117877521	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557777762	chr12:117877537-117877538	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577607940	chr12:117877568-117877569	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545704794	chr12:117877581-117877582	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559177169	chr12:117877656-117877657	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369782002	chr12:117877674-117877675	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs375981926	chr12:117877678-117877679	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541691109	chr12:117877694-117877695	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs561897075	chr12:117877705-117877706	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530563736	chr12:117877814-117877815	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs185718083	chr12:117877845-117877846	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs34500327	chr12:117877873-117877874	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115259067	chr12:117877924-117877925	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs77155898	chr12:117877961-117877962	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs553993528	chr12:117877999-117878000	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs536132401	chr12:117878025-117878026	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs190232604	chr12:117878051-117878052	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs55833798	chr12:117878076-117878077	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs569430836	chr12:117878110-117878111	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs371394434	chr12:117878140-117878141	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs537989990	chr12:117878234-117878235	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117874400-117880400	Enhancers	Fetal Muscle Leg	muscle
2	chr12:117875400-117877800	Enhancers	Brain Angular Gyrus	brain
3	chr12:117875400-117878800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr12:117875800-117878000	Enhancers	Brain Germinal Matrix	brain
5	chr12:117875800-117878600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr12:117876200-117877800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:117876600-117877400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:117876600-117877600	Enhancers	Brain Substantia Nigra	brain
9	chr12:117876600-117877800	Enhancers	Brain Hippocampus Middle	brain
10	chr12:117876600-117879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:117876800-117877200	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr12:117876800-117878000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr12:117876800-117878800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr12:117877000-117877200	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr12:117877000-117877200	Enhancers	Psoas Muscle	Psoas
16	chr12:117877200-117877400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:117877200-117877400	Enhancers	Brain Anterior Caudate	brain
18	chr12:117877200-117877400	Flanking Active TSS	Psoas Muscle	Psoas
19	chr12:117877200-117877600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr12:117877200-117877800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:117877200-117877800	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:117877200-117878000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:117877400-117877600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:117877400-117878000	Active TSS	Psoas Muscle	Psoas
25	chr12:117877400-117879200	Weak transcription	Brain Anterior Caudate	brain
26	chr12:117877400-117888200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:117877600-117877800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr12:117877600-117878600	Enhancers	Pancreas	Pancrea
29	chr12:117877800-117879400	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:117877800-117879600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:117878000-117878200	Flanking Active TSS	Psoas Muscle	Psoas
32	chr12:117878000-117879600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:117878200-117878600	Enhancers	Psoas Muscle	Psoas
34	chr12:117878600-117880000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:117878600-117885800	Weak transcription	Pancreas	Pancrea
36	chr12:117878800-117879600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:117879200-117879600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:117879200-117879600	Enhancers	HSMM	muscle
39	chr12:117879200-117880000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:117879200-117880000	Enhancers	Brain Anterior Caudate	brain
41	chr12:117879200-117880000	Enhancers	A549	lung

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