Variant report

Variant	nsv519949
Chromosome Location	chr5:117005690-117055145
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:117005779..117008314-chr5:117034629..117036437,2	K562	blood:
2	chr5:117050991..117053069-chr5:117068100..117070459,2	MCF-7	breast:
3	chr5:117005779..117008314-chr5:117034629..117036437,2	K562	blood:
4	chr5:117005684..117008647-chr5:117010420..117012880,2	K562	blood:
5	chr5:117005684..117008647-chr5:117010420..117012880,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-13	chr5:117054935-117055640	NONHSAT103389

No data

Extended variants
information (count: 620 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10036310	chr5:117005690-117005691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545222948	chr5:117005704-117005705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59116382	chr5:117005705-117005706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370068105	chr5:117005708-117005709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549226986	chr5:117005715-117005716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562973327	chr5:117005724-117005725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531612755	chr5:117005727-117005728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538791149	chr5:117005751-117005752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551759505	chr5:117005764-117005765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191012544	chr5:117005803-117005804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182724920	chr5:117005822-117005823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547189833	chr5:117005839-117005840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546843972	chr5:117005850-117005851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543760117	chr5:117005855-117005856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187697969	chr5:117005861-117005862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555190614	chr5:117005864-117005865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112193009	chr5:117005872-117005873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs55784837	chr5:117005893-117005894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2416472	chr5:117005946-117005947	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs56813159	chr5:117005953-117005954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575640174	chr5:117005976-117005977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17411921	chr5:117005977-117005978	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563676384	chr5:117005986-117005987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182776509	chr5:117006032-117006033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17411956	chr5:117006034-117006035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs57384737	chr5:117006035-117006036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562851281	chr5:117006050-117006051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs951482	chr5:117006071-117006072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373276372	chr5:117006088-117006089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367887935	chr5:117006143-117006144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138594327	chr5:117006206-117006207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565256600	chr5:117006222-117006223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540897093	chr5:117006252-117006253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559132830	chr5:117006303-117006304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375037187	chr5:117006318-117006319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533299380	chr5:117006335-117006336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73786921	chr5:117006369-117006370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369941017	chr5:117006409-117006410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529985255	chr5:117006451-117006452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144078169	chr5:117006467-117006468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73786922	chr5:117006496-117006497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577009373	chr5:117006557-117006558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147306470	chr5:117006561-117006562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150416092	chr5:117006587-117006588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187422708	chr5:117006602-117006603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568896479	chr5:117006607-117006608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537529377	chr5:117006620-117006621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557368977	chr5:117006626-117006627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570928944	chr5:117006692-117006693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533518734	chr5:117006725-117006726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117003200-117010800	Weak transcription	Fetal Intestine Large	intestine
2	chr5:117003600-117010600	Weak transcription	Fetal Intestine Small	intestine
3	chr5:117005800-117006000	Enhancers	Pancreas	Pancrea
4	chr5:117006000-117011600	Weak transcription	Pancreas	Pancrea
5	chr5:117010600-117012400	Enhancers	Fetal Intestine Small	intestine
6	chr5:117010800-117011200	Enhancers	Fetal Intestine Large	intestine
7	chr5:117013600-117014400	Enhancers	Fetal Heart	heart
8	chr5:117014400-117014800	Weak transcription	Fetal Heart	heart
9	chr5:117014600-117019200	Enhancers	HSMMtube	muscle
10	chr5:117014800-117015000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:117014800-117019400	Enhancers	Fetal Heart	heart
12	chr5:117015200-117018200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:117016000-117017600	Enhancers	Fetal Muscle Leg	muscle
14	chr5:117016200-117018800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:117016800-117017600	Enhancers	GM12878-XiMat	blood
16	chr5:117017000-117017800	Enhancers	Fetal Kidney	kidney
17	chr5:117017200-117017600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:117017200-117017600	Enhancers	Brain Germinal Matrix	brain
19	chr5:117017200-117019600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:117017400-117017800	Enhancers	Fetal Stomach	stomach
21	chr5:117017400-117017800	Enhancers	Pancreas	Pancrea
22	chr5:117017400-117017800	Enhancers	NHDF-Ad	bronchial
23	chr5:117017400-117018000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:117017400-117018000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:117017600-117018600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:117018000-117018400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:117018400-117019600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:117018600-117019000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:117026200-117026400	Flanking Active TSS	HSMMtube	muscle
30	chr5:117026400-117026600	Active TSS	HSMMtube	muscle
31	chr5:117026400-117027000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:117026800-117027600	Enhancers	Adipose Nuclei	Adipose
33	chr5:117028200-117029200	Enhancers	Fetal Intestine Small	intestine
34	chr5:117036200-117036400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:117036200-117037000	Enhancers	Fetal Intestine Small	intestine
36	chr5:117036600-117037000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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