Variant report

Variant	nsv882849
Chromosome Location	chr5:128446692-128501738
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:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:128335262..128337541-chr5:128469535..128471381,2	K562	blood:
2	chr5:128429088..128431633-chr5:128448995..128451106,2	MCF-7	breast:
3	chr17:57183686..57184258-chr5:128453625..128454242,2	MCF-7	breast:
4	chr5:128449401..128450328-chr5:128462057..128462852,2	MCF-7	breast:
5	chr5:128438665..128441668-chr5:128448415..128451376,3	K562	blood:
6	chr5:128429996..128432872-chr5:128469702..128471775,4	MCF-7	breast:
7	chr5:128448676..128453642-chr5:128454488..128460392,5	K562	blood:
8	chr5:128449482..128450272-chr5:128470907..128471897,5	MCF-7	breast:
9	chr5:128430725..128432817-chr5:128449870..128452474,3	K562	blood:
10	chr5:128471130..128472804-chr5:128479720..128482426,2	MCF-7	breast:
11	chr5:128448676..128453642-chr5:128454488..128460392,5	K562	blood:
12	chr5:128498612..128501498-chr5:128507388..128509963,2	MCF-7	breast:
13	chr5:128453538..128456511-chr5:128465200..128466831,2	MCF-7	breast:
14	chr5:128449513..128450059-chr5:128471026..128471569,2	K562	blood:
15	chr5:128437674..128440234-chr5:128454579..128456642,2	K562	blood:
16	chr5:128446074..128449776-chr5:128450937..128454358,4	K562	blood:
17	chr5:128475005..128477113-chr5:128505141..128506795,2	MCF-7	breast:
18	chr5:128464646..128465365-chr5:128512968..128513960,3	MCF-7	breast:
19	chr5:128465342..128468762-chr5:128469203..128471352,3	K562	blood:
20	chr5:128240890..128241833-chr5:128471115..128471772,2	MCF-7	breast:
21	chr5:128428697..128430570-chr5:128449336..128453122,3	K562	blood:
22	chr5:128500983..128502962-chr5:128506741..128508660,2	MCF-7	breast:
23	chr5:128438691..128440626-chr5:128444757..128447692,2	K562	blood:
24	chr5:128463517..128466232-chr5:128467484..128470221,2	MCF-7	breast:
25	chr5:128451359..128453698-chr5:128795790..128798688,2	MCF-7	breast:
26	chr5:128449401..128450328-chr5:128462057..128462852,2	MCF-7	breast:
27	chr5:128451572..128454294-chr5:128458058..128461292,3	K562	blood:
28	chr5:128449513..128450059-chr5:128471026..128471569,2	K562	blood:
29	chr5:128429647..128431641-chr5:128444581..128446918,2	MCF-7	breast:
30	chr5:128470876..128472594-chr5:128472847..128476147,3	K562	blood:
31	chr5:128449482..128450272-chr5:128470907..128471897,5	MCF-7	breast:
32	chr5:128471130..128472804-chr5:128479720..128482426,2	MCF-7	breast:
33	chr5:128430676..128433007-chr5:128447278..128450183,2	K562	blood:
34	chr5:128451572..128454294-chr5:128458058..128461292,3	K562	blood:
35	chr5:128461144..128463118-chr5:128795505..128797060,2	MCF-7	breast:
36	chr5:128241389..128241984-chr5:128470334..128471103,2	MCF-7	breast:
37	chr5:128463517..128466232-chr5:128467484..128470221,2	MCF-7	breast:
38	chr5:128470876..128472594-chr5:128472847..128476147,3	K562	blood:
39	chr5:128240845..128241883-chr5:128470886..128471556,3	MCF-7	breast:
40	chr5:128446074..128449776-chr5:128450937..128454358,4	K562	blood:
41	chr5:128453538..128456511-chr5:128465200..128466831,2	MCF-7	breast:
42	chr5:128431785..128433968-chr5:128447561..128449547,2	MCF-7	breast:
43	chr5:128240931..128241657-chr5:128461887..128462572,2	MCF-7	breast:
44	chr5:128429165..128432020-chr5:128454173..128455857,2	MCF-7	breast:
45	chr5:128241087..128241855-chr5:128471030..128471838,2	K562	blood:
46	chr5:128464646..128465258-chr5:128513053..128513960,2	MCF-7	breast:
47	chr5:128465342..128468762-chr5:128469203..128471352,3	K562	blood:
48	chr4:78521675..78522522-chr5:128453764..128454552,2	K562	blood:
49	chr5:128435328..128437132-chr5:128446217..128448838,2	MCF-7	breast:
50	chr5:128433582..128436325-chr5:128460643..128463570,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108395	chromatin interactions
ENSG00000224738	chromatin interactions
ENSG00000145808	chromatin interactions
ENSG00000264563	chromatin interactions
ENSG00000066583	chromatin interactions
ENSG00000249421	chromatin interactions

Extended variants
information (count: 1652 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1652 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10478831	chr5:128446692-128446693	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530291213	chr5:128446782-128446783	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79772988	chr5:128446830-128446831	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs3798119	chr5:128446836-128446837	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572744425	chr5:128446922-128446923	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3798120	chr5:128446927-128446928	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147923496	chr5:128446945-128446946	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13179120	chr5:128446967-128446968	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530351044	chr5:128446981-128446982	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13179126	chr5:128446982-128446983	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78954268	chr5:128446989-128446990	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544802675	chr5:128446990-128446991	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528793284	chr5:128447003-128447004	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551754612	chr5:128447008-128447009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141756341	chr5:128447012-128447013	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369813803	chr5:128447022-128447023	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538676407	chr5:128447041-128447042	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147098162	chr5:128447060-128447061	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550980766	chr5:128447091-128447092	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73235881	chr5:128447122-128447123	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115104558	chr5:128447176-128447177	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555538178	chr5:128447211-128447212	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374797608	chr5:128447232-128447233	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533985166	chr5:128447251-128447252	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115644611	chr5:128447286-128447287	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534932537	chr5:128447287-128447288	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553636280	chr5:128447293-128447294	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574345120	chr5:128447304-128447305	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138537147	chr5:128447322-128447323	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191665248	chr5:128447371-128447372	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6894300	chr5:128447373-128447374	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142022481	chr5:128447397-128447398	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556536346	chr5:128447417-128447418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543236454	chr5:128447432-128447433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573404901	chr5:128447438-128447439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150292528	chr5:128447508-128447509	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559914250	chr5:128447538-128447539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528651614	chr5:128447556-128447557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs137920645	chr5:128447565-128447566	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372932929	chr5:128447636-128447637	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183471944	chr5:128447656-128447657	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187042351	chr5:128447764-128447765	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149476289	chr5:128447815-128447816	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191849876	chr5:128447844-128447845	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536120640	chr5:128447878-128447879	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530225032	chr5:128447934-128447935	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376573821	chr5:128447977-128447978	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183976870	chr5:128447999-128448000	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370579361	chr5:128448014-128448015	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2059124	chr5:128448016-128448017	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

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
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128431200-128447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:128431400-128450600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:128431400-128457400	Weak transcription	Lung	lung
4	chr5:128431600-128450400	Weak transcription	Placenta	Placenta
5	chr5:128431600-128450400	Weak transcription	HSMM	muscle
6	chr5:128431600-128454200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:128432200-128450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:128432200-128454600	Weak transcription	Aorta	Aorta
9	chr5:128432400-128450400	Weak transcription	Brain Angular Gyrus	brain
10	chr5:128433400-128453800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:128434000-128448800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:128434000-128455600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:128434000-128458400	Weak transcription	Esophagus	oesophagus
14	chr5:128434400-128447000	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:128434400-128454200	Weak transcription	Colonic Mucosa	Colon
16	chr5:128434400-128461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:128434800-128461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:128435000-128446800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:128435200-128450400	Weak transcription	HUVEC	blood vessel
20	chr5:128435200-128452800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:128435200-128453000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
23	chr5:128435600-128453200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:128436000-128447000	Weak transcription	GM12878-XiMat	blood
25	chr5:128439600-128456200	Weak transcription	Spleen	Spleen
26	chr5:128440000-128452800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:128440600-128452800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:128441600-128447000	Strong transcription	Primary B cells from cord blood	blood
29	chr5:128441800-128449000	Strong transcription	Fetal Intestine Large	intestine
30	chr5:128442200-128449000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr5:128442200-128451000	Strong transcription	Primary T cells from cord blood	blood
32	chr5:128442800-128450400	Weak transcription	Hela-S3	cervix
33	chr5:128442800-128451800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:128443000-128449400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr5:128443000-128459800	Weak transcription	Fetal Kidney	kidney
36	chr5:128443200-128450400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:128443200-128450800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:128443600-128450200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:128443600-128450400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:128443600-128454400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:128443600-128454400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:128443800-128452600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:128444000-128447000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:128444000-128447600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr5:128444000-128448200	Weak transcription	HepG2	liver
46	chr5:128444000-128448200	Weak transcription	K562	blood
47	chr5:128444000-128448400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:128444000-128448400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr5:128444000-128450400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:128444000-128453600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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