Variant report

Variant	esv13953
Chromosome Location	chr4:69608522-69614042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B15-1	chr4:69610451-69610823	XLOC_003973
2	lnc-UGT2B15-1	chr4:69613396-69613521	XLOC_003973
3	lnc-UGT2B15-1	chr4:69610363-69610823	XLOC_003973

Variant related genes	Relation type
PAK4	miRNA target sites

Extended variants
information (count: 275 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534709421	chr4:69608532-69608533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60150309	chr4:69608533-69608534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559675294	chr4:69608555-69608556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78453045	chr4:69608558-69608559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548569254	chr4:69608570-69608571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529339414	chr4:69608610-69608611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568455698	chr4:69608651-69608652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142209440	chr4:69608705-69608706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550559270	chr4:69608743-69608744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570653835	chr4:69608782-69608783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539533166	chr4:69608797-69608798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534045130	chr4:69608832-69608833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61340104	chr4:69608865-69608866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs380168	chr4:69608887-69608888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs151204738	chr4:69608893-69608894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367592345	chr4:69608933-69608934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535757094	chr4:69608944-69608945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555333484	chr4:69608945-69608946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545754159	chr4:69608980-69608981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575199954	chr4:69609031-69609032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560724188	chr4:69609084-69609085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544270232	chr4:69609145-69609146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs439824	chr4:69609155-69609156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577847247	chr4:69609157-69609158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540309292	chr4:69609175-69609176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs430638	chr4:69609185-69609186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10665752	chr4:69609190-69609191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576699230	chr4:69609194-69609195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7673881	chr4:69609242-69609243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528389083	chr4:69609273-69609274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60199344	chr4:69609308-69609309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562195918	chr4:69609330-69609331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114526018	chr4:69609345-69609346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192001827	chr4:69609347-69609348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184476905	chr4:69609382-69609383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116207141	chr4:69609384-69609385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114992892	chr4:69609393-69609394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540332069	chr4:69609442-69609443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375497858	chr4:69609542-69609543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546654196	chr4:69609568-69609569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs426050	chr4:69609576-69609577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs384038	chr4:69609640-69609641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555536196	chr4:69609721-69609722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569095719	chr4:69609744-69609745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs425760	chr4:69609763-69609764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs368818787	chr4:69609783-69609784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554949693	chr4:69609818-69609819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs425561	chr4:69609824-69609825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577684720	chr4:69609840-69609841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540343920	chr4:69609844-69609845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69602800-69613400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69605200-69610000	Weak transcription	HepG2	liver
3	chr4:69606200-69609800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:69609400-69612000	Enhancers	Stomach Mucosa	stomach
5	chr4:69609400-69612200	Enhancers	Fetal Intestine Large	intestine
6	chr4:69609600-69610200	Enhancers	A549	lung
7	chr4:69609800-69612000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr4:69609800-69615400	Enhancers	Fetal Intestine Small	intestine
9	chr4:69610000-69610400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr4:69610000-69610600	Enhancers	HepG2	liver
11	chr4:69610000-69610800	Enhancers	Gastric	stomach
12	chr4:69610000-69611800	Enhancers	Duodenum Mucosa	Duodenum
13	chr4:69610000-69612000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:69610200-69610600	Flanking Active TSS	A549	lung
15	chr4:69610600-69611200	Flanking Active TSS	HepG2	liver
16	chr4:69610600-69611400	Active TSS	A549	lung
17	chr4:69610800-69611800	Weak transcription	Gastric	stomach
18	chr4:69611200-69612000	Enhancers	HepG2	liver
19	chr4:69611400-69612000	Flanking Active TSS	A549	lung
20	chr4:69611800-69612000	Enhancers	Gastric	stomach
21	chr4:69611800-69614000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:69612000-69612200	Enhancers	A549	lung
23	chr4:69612000-69613200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:69612000-69614200	Weak transcription	Stomach Mucosa	stomach
25	chr4:69612000-69615600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:69612000-69616000	Weak transcription	HepG2	liver
27	chr4:69612200-69613200	Weak transcription	Fetal Intestine Large	intestine
28	chr4:69612200-69613400	Weak transcription	A549	lung
29	chr4:69613200-69614000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:69613200-69615200	Enhancers	Fetal Intestine Large	intestine
31	chr4:69613400-69613600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:69613400-69614800	Enhancers	A549	lung
33	chr4:69613400-69615000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:69613600-69614000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:69614000-69614200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr4:69614000-69614400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:69614000-69614400	Flanking Active TSS	HMEC	breast
38	chr4:69614000-69615800	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links