Variant report

Variant	nsv462444
Chromosome Location	chr5:128458834-128531972
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:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:128475005..128477113-chr5:128505141..128506795,2	MCF-7	breast:
2	chr5:128526647..128529210-chr5:128796406..128798756,3	MCF-7	breast:
3	chr5:128513064..128514027-chr5:128577044..128578155,18	MCF-7	breast:
4	chr5:128475005..128477113-chr5:128505141..128506795,2	MCF-7	breast:
5	chr5:128513050..128513852-chr5:128577188..128577981,3	MCF-7	breast:
6	chr5:128470876..128472594-chr5:128472847..128476147,3	K562	blood:
7	chr5:128514742..128517177-chr5:128522195..128524803,2	MCF-7	breast:
8	chr5:128514076..128515653-chr5:128523008..128525189,2	MCF-7	breast:
9	chr5:128507985..128508908-chr5:128606817..128607642,7	MCF-7	breast:
10	chr5:128449482..128450272-chr5:128470907..128471897,5	MCF-7	breast:
11	chr5:128471130..128472804-chr5:128479720..128482426,2	MCF-7	breast:
12	chr5:128464646..128465258-chr5:128513053..128513960,2	MCF-7	breast:
13	chr5:128514742..128517177-chr5:128522195..128524803,2	MCF-7	breast:
14	chr5:128461144..128463118-chr5:128795505..128797060,2	MCF-7	breast:
15	chr5:128240845..128241883-chr5:128470886..128471556,3	MCF-7	breast:
16	chr5:128512997..128515726-chr5:128602671..128605441,2	MCF-7	breast:
17	chr5:128512367..128515269-chr5:128795837..128799200,3	MCF-7	breast:
18	chr5:128506836..128515657-chr5:128794650..128798569,12	MCF-7	breast:
19	chr5:128471130..128472804-chr5:128479720..128482426,2	MCF-7	breast:
20	chr5:128463517..128466232-chr5:128467484..128470221,2	MCF-7	breast:
21	chr5:128240931..128241657-chr5:128461887..128462572,2	MCF-7	breast:
22	chr5:128465342..128468762-chr5:128469203..128471352,3	K562	blood:
23	chr5:128513155..128513936-chr5:128690914..128691572,4	MCF-7	breast:
24	chr5:128514076..128515653-chr5:128523008..128525189,2	MCF-7	breast:
25	chr5:128507985..128508858-chr5:129103369..129104142,2	K562	blood:
26	chr5:128498612..128501498-chr5:128507388..128509963,2	MCF-7	breast:
27	chr5:128465342..128468762-chr5:128469203..128471352,3	K562	blood:
28	chr5:128507699..128508883-chr5:129103268..129104196,8	MCF-7	breast:
29	chr5:128501908..128504511-chr5:128797973..128800671,2	MCF-7	breast:
30	chr5:128448676..128453642-chr5:128454488..128460392,5	K562	blood:
31	chr5:128433582..128436325-chr5:128460643..128463570,2	MCF-7	breast:
32	chr5:128241087..128241855-chr5:128471030..128471838,2	K562	blood:
33	chr5:128470876..128472594-chr5:128472847..128476147,3	K562	blood:
34	chr5:128453538..128456511-chr5:128465200..128466831,2	MCF-7	breast:
35	chr5:128241389..128241984-chr5:128470334..128471103,2	MCF-7	breast:
36	chr5:128335262..128337541-chr5:128469535..128471381,2	K562	blood:
37	chr5:128464646..128465365-chr5:128512968..128513960,3	MCF-7	breast:
38	chr5:128498612..128501498-chr5:128507388..128509963,2	MCF-7	breast:
39	chr5:128432223..128435178-chr5:128464639..128468314,3	MCF-7	breast:
40	chr5:128449513..128450059-chr5:128471026..128471569,2	K562	blood:
41	chr5:128429996..128432872-chr5:128469702..128471775,4	MCF-7	breast:
42	chr5:128433949..128434874-chr5:128513202..128513912,2	MCF-7	breast:
43	chr5:128513042..128514027-chr5:128577044..128578155,14	MCF-7	breast:
44	chr5:128464646..128465365-chr5:128512968..128513960,3	MCF-7	breast:
45	chr5:128513076..128513989-chr5:128577110..128577990,3	MCF-7	breast:
46	chr5:128463517..128466232-chr5:128467484..128470221,2	MCF-7	breast:
47	chr5:128449401..128450328-chr5:128462057..128462852,2	MCF-7	breast:
48	chr5:128500983..128502962-chr5:128506741..128508660,2	MCF-7	breast:
49	chr5:128240890..128241833-chr5:128471115..128471772,2	MCF-7	breast:
50	chr5:128508358..128508876-chr5:128606713..128607484,2	MCF-7	breast:

No data

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

Extended variants
information (count: 1898 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1898 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10520025	chr5:128458834-128458835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574520845	chr5:128458884-128458885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371386087	chr5:128458911-128458912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186270350	chr5:128458991-128458992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554144220	chr5:128459012-128459013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542082773	chr5:128459141-128459142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577201374	chr5:128459169-128459170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73784865	chr5:128459240-128459241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181850540	chr5:128459246-128459247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568159064	chr5:128459249-128459250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs33957246	chr5:128459328-128459329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562304303	chr5:128459335-128459336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531451260	chr5:128459339-128459340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372054759	chr5:128459355-128459356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141045142	chr5:128459386-128459387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374644365	chr5:128459424-128459425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527912957	chr5:128459499-128459500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547573741	chr5:128459552-128459553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570852609	chr5:128459564-128459565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34758748	chr5:128459588-128459589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112843215	chr5:128459634-128459635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77031727	chr5:128459649-128459650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569918849	chr5:128459653-128459654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535967649	chr5:128459654-128459655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186056607	chr5:128459669-128459670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191500668	chr5:128459671-128459672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534021084	chr5:128459773-128459774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536717314	chr5:128459811-128459812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577213787	chr5:128459837-128459838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546084772	chr5:128459856-128459857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556146622	chr5:128459865-128459866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575974788	chr5:128459888-128459889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11749536	chr5:128459905-128459906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561670303	chr5:128459906-128459907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183416998	chr5:128459941-128459942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571802670	chr5:128459958-128459959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145860671	chr5:128459981-128459982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564301556	chr5:128460045-128460046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115187301	chr5:128460060-128460061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186226939	chr5:128460080-128460081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202069015	chr5:128460169-128460170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529306799	chr5:128460183-128460184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549350211	chr5:128460207-128460208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566224431	chr5:128460215-128460216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546399577	chr5:128460226-128460227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567031820	chr5:128460244-128460245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556994079	chr5:128460249-128460250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570631730	chr5:128460250-128460251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539597035	chr5:128460280-128460281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556217458	chr5:128460332-128460333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128434400-128461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:128434800-128461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
4	chr5:128443000-128459800	Weak transcription	Fetal Kidney	kidney
5	chr5:128444000-128460200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:128444000-128461600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:128444000-128461600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:128444000-128462000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:128444000-128462400	Weak transcription	Gastric	stomach
10	chr5:128444600-128461600	Weak transcription	Fetal Intestine Small	intestine
11	chr5:128447400-128461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:128448800-128461400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:128448800-128461600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:128448800-128461600	Weak transcription	Dnd41	blood
15	chr5:128449000-128461400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:128449400-128461200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:128449600-128460200	Weak transcription	Primary B cells from cord blood	blood
18	chr5:128452000-128460000	Weak transcription	Liver	Liver
19	chr5:128453000-128460600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:128453000-128461600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:128453200-128461600	Weak transcription	Fetal Intestine Large	intestine
22	chr5:128453200-128462600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:128453400-128460000	Weak transcription	Left Ventricle	heart
24	chr5:128453800-128461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:128454000-128462200	Weak transcription	Fetal Stomach	stomach
26	chr5:128454200-128461600	Weak transcription	Adipose Nuclei	Adipose
27	chr5:128454200-128462000	Weak transcription	K562	blood
28	chr5:128454200-128462400	Weak transcription	Fetal Heart	heart
29	chr5:128454800-128461600	Weak transcription	Primary T cells from cord blood	blood
30	chr5:128457200-128460400	Weak transcription	GM12878-XiMat	blood
31	chr5:128460000-128460400	Enhancers	Left Ventricle	heart
32	chr5:128460000-128460600	Enhancers	Liver	Liver
33	chr5:128460200-128460800	Enhancers	Primary B cells from peripheral blood	blood
34	chr5:128460400-128461600	Enhancers	GM12878-XiMat	blood
35	chr5:128460600-128461000	Weak transcription	Liver	Liver
36	chr5:128460800-128461200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:128461000-128461400	Enhancers	Liver	Liver
38	chr5:128461200-128461400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:128461200-128461600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr5:128461200-128461600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:128461200-128461600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr5:128461200-128461600	Enhancers	Duodenum Mucosa	Duodenum
43	chr5:128461200-128462400	Enhancers	Primary B cells from peripheral blood	blood
44	chr5:128461200-128462600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:128461400-128461800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:128461400-128462000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr5:128461400-128462200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:128461400-128462200	Flanking Active TSS	Liver	Liver
49	chr5:128461400-128462400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr5:128461400-128462400	Enhancers	Primary T helper cells fromperipheralblood	blood

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