Variant report

Variant	esv2760967
Chromosome Location	chr5:117778941-117809332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-3	chr5:117807758-117807884	NONHSAT103396
2	lnc-DTWD2-3	chr5:117808544-117808601	XLOC_004965
3	lnc-DTWD2-3	chr5:117803997-117804129	NR_104610
4	lnc-DTWD2-3	chr5:117803997-117804129	NONHSAT103396
5	lnc-DTWD2-3	chr5:117807758-117807884	NR_104610
6	lnc-DTWD2-3	chr5:117808544-117808601	NONHSAT103396
7	lnc-DTWD2-3	chr5:117808544-117808601	NR_104610
8	lnc-DTWD2-3	chr5:117803851-117804129	XLOC_004965
9	lnc-DTWD2-3	chr5:117804776-117804843	NR_104610
10	lnc-DTWD2-3	chr5:117809227-117810122	XLOC_004965
11	lnc-DTWD2-3	chr5:117804776-117804843	NONHSAT103396
12	lnc-DTWD2-3	chr5:117804776-117804843	XLOC_004965
13	lnc-DTWD2-3	chr5:117807758-117807884	XLOC_004965

No data

Variant related genes	Relation type
CEBPB	miRNA target sites

Extended variants
information (count: 1367 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1367 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6595131	chr5:117778941-117778942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193048816	chr5:117778979-117778980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6595132	chr5:117778982-117778983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531898499	chr5:117778983-117778984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552115632	chr5:117778992-117778993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114783585	chr5:117779023-117779024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571878670	chr5:117779024-117779025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533588791	chr5:117779034-117779035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554144248	chr5:117779068-117779069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146619767	chr5:117779076-117779077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368403182	chr5:117779079-117779080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535946881	chr5:117779105-117779106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555801209	chr5:117779122-117779123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6878216	chr5:117779177-117779178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374813694	chr5:117779205-117779206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28699242	chr5:117779207-117779208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6878509	chr5:117779209-117779210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145520556	chr5:117779225-117779226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554133213	chr5:117779226-117779227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573902245	chr5:117779259-117779260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6878391	chr5:117779264-117779265	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562932952	chr5:117779278-117779279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367694811	chr5:117779313-117779314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6595133	chr5:117779384-117779385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185620916	chr5:117779396-117779397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527987588	chr5:117779444-117779445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533390113	chr5:117779445-117779446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201822047	chr5:117779499-117779500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116657721	chr5:117779538-117779539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190544597	chr5:117779540-117779541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529608839	chr5:117779589-117779590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181863852	chr5:117779623-117779624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569390939	chr5:117779636-117779637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143779401	chr5:117779649-117779650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551536944	chr5:117779654-117779655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558706463	chr5:117779733-117779734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186106336	chr5:117779742-117779743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200002719	chr5:117779749-117779750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146168920	chr5:117779761-117779762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188506800	chr5:117779780-117779781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574095703	chr5:117779814-117779815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543013130	chr5:117779865-117779866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181321299	chr5:117779867-117779868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576604128	chr5:117779887-117779888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545666491	chr5:117779934-117779935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12515772	chr5:117779945-117779946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185195539	chr5:117779994-117779995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138885395	chr5:117779995-117779996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141265801	chr5:117780002-117780003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114665934	chr5:117780015-117780016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117775400-117779000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:117777800-117779400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:117778600-117779000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:117778800-117779000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:117778800-117779200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:117779000-117779200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:117779000-117780800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:117779000-117786200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:117779200-117779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:117779400-117779800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:117779400-117785400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:117779800-117780600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:117780600-117781400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:117780600-117781600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:117780600-117781800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:117780800-117781000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:117780800-117782200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:117780800-117782200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:117780800-117782400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:117780800-117782400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:117781000-117781600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:117781000-117782000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:117781400-117785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:117781600-117781800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:117781600-117782000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:117781600-117782000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr5:117781800-117782000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:117781800-117782200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:117781800-117785200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:117782000-117782200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr5:117782000-117782600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:117782000-117783600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr5:117782000-117785000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:117782200-117785200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:117782200-117785400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:117782200-117785600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:117782400-117785000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:117782400-117785000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:117782600-117785200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:117783000-117783600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:117783600-117807000	Weak transcription	Left Ventricle	heart
42	chr5:117785000-117786600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:117785000-117786800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:117785000-117787000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:117785200-117787000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr5:117785200-117787000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr5:117785200-117787000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:117785400-117786600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr5:117785400-117786600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:117785400-117787000	Enhancers	HUES6 Cell Line	embryonic stem cell

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