Variant report

Variant	esv2421578
Chromosome Location	chr6:44513341-44514951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AARS2-2	chr6:44513902-44514193	NONHSAT112964

Extended variants
information (count: 62 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1040939	chr6:44513341-44513342	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147148518	chr6:44513348-44513349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190155935	chr6:44513349-44513350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181381884	chr6:44513381-44513382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139450379	chr6:44513383-44513384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1535518	chr6:44513399-44513400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544225557	chr6:44513408-44513409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562318309	chr6:44513421-44513422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76318020	chr6:44513457-44513458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186619140	chr6:44513458-44513459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149436313	chr6:44513467-44513468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144820908	chr6:44513485-44513486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527786241	chr6:44513509-44513510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552502084	chr6:44513525-44513526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570796559	chr6:44513541-44513542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148562187	chr6:44513611-44513612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529156763	chr6:44513629-44513630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550529636	chr6:44513635-44513636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568786795	chr6:44513689-44513690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536029919	chr6:44513698-44513699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191466890	chr6:44513715-44513716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554412160	chr6:44513743-44513744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566523297	chr6:44513747-44513748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144351335	chr6:44513750-44513751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569874521	chr6:44513781-44513782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36000424	chr6:44513808-44513809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544084011	chr6:44513888-44513889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76119928	chr6:44513932-44513933	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs538581185	chr6:44513949-44513950	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs377069467	chr6:44513992-44513993	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs368030814	chr6:44513995-44513996	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs183711956	chr6:44514032-44514033	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs188738727	chr6:44514036-44514037	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs527775485	chr6:44514039-44514040	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs140098710	chr6:44514090-44514091	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs191077669	chr6:44514151-44514152	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs531573339	chr6:44514166-44514167	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs143679167	chr6:44514193-44514194	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs568726166	chr6:44514197-44514198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115196316	chr6:44514231-44514232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182131614	chr6:44514232-44514233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114269101	chr6:44514275-44514276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533862105	chr6:44514295-44514296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531584483	chr6:44514326-44514327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372327058	chr6:44514335-44514336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552018115	chr6:44514359-44514360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146795773	chr6:44514395-44514396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368221451	chr6:44514427-44514428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555742333	chr6:44514439-44514440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574350673	chr6:44514440-44514441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44511000-44516000	Weak transcription	HSMMtube	muscle
2	chr6:44511000-44516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:44512800-44513400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:44513000-44513600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr6:44513400-44523800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links