Variant report

Variant	nsv882630
Chromosome Location	chr5:104751044-104841922
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104805339..104808156-chr5:104810446..104813222,2	MCF-7	breast:
2	chr5:104727296..104728816-chr5:104790778..104793743,2	K562	blood:
3	chr5:104768629..104770858-chr5:104785097..104787270,2	K562	blood:
4	chr5:104833860..104836077-chr5:104839152..104841039,2	K562	blood:
5	chr5:104778136..104780320-chr5:104785388..104787017,2	K562	blood:
6	chr5:104778136..104780320-chr5:104785388..104787017,2	K562	blood:
7	chr5:104810915..104813579-chr5:104817384..104819206,2	MCF-7	breast:
8	chr5:104810915..104813579-chr5:104817384..104819206,2	MCF-7	breast:
9	chr5:104833860..104836077-chr5:104839152..104841039,2	K562	blood:
10	chr18:42792470..42793145-chr5:104821622..104822504,2	MCF-7	breast:
11	chr5:104727742..104729434-chr5:104763198..104765492,2	K562	blood:
12	chr1:184434764..184435543-chr5:104792004..104792524,3	MCF-7	breast:
13	chr5:104768629..104770858-chr5:104785097..104787270,2	K562	blood:
14	chr5:104805339..104808156-chr5:104810446..104813222,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251574	chromatin interactions
ENSG00000132874	chromatin interactions

Extended variants
information (count: 1033 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1033 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185766143	chr5:104757831-104757832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191527786	chr5:104757866-104757867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577653908	chr5:104757906-104757907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183418468	chr5:104757907-104757908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187131478	chr5:104757919-104757920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556794368	chr5:104757940-104757941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573714892	chr5:104757990-104757991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542192151	chr5:104758039-104758040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10479326	chr5:104758041-104758042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574938230	chr5:104758047-104758048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528752181	chr5:104758054-104758055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57687673	chr5:104758062-104758063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565431615	chr5:104758069-104758070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142647583	chr5:104758085-104758086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551022020	chr5:104758092-104758093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567640313	chr5:104758095-104758096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191823352	chr5:104758099-104758100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547005882	chr5:104758111-104758112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371591442	chr5:104758118-104758119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183236566	chr5:104758156-104758157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545479361	chr5:104758159-104758160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543185626	chr5:104758164-104758165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77733488	chr5:104758196-104758197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370211268	chr5:104758247-104758248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571385058	chr5:104758259-104758260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146041447	chr5:104758309-104758310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528641058	chr5:104758321-104758322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557147626	chr5:104758336-104758337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573398481	chr5:104758382-104758383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200772047	chr5:104758409-104758410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs66459854	chr5:104758426-104758427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62369176	chr5:104758427-104758428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369660743	chr5:104758429-104758430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62369177	chr5:104758430-104758431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148781399	chr5:104758432-104758433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61018392	chr5:104758472-104758473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56346889	chr5:104758475-104758476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186554367	chr5:104758510-104758511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191333000	chr5:104758530-104758531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562195897	chr5:104758533-104758534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529608198	chr5:104758541-104758542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143377701	chr5:104758557-104758558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545269159	chr5:104758569-104758570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563615361	chr5:104763210-104763211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192231256	chr5:104763242-104763243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184673201	chr5:104763262-104763263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187876738	chr5:104763265-104763266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192641690	chr5:104763296-104763297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566223964	chr5:104763332-104763333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144214017	chr5:104763368-104763369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Obesity	20622171	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104757800-104758600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:104763400-104764400	Enhancers	Fetal Intestine Large	intestine
3	chr5:104766000-104767600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:104767600-104768600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:104768600-104769000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:104768600-104769200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:104796000-104801800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:104811600-104811800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:104817600-104817800	Enhancers	Liver	Liver
10	chr5:104817800-104818200	Active TSS	Liver	Liver
11	chr5:104820000-104820600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:104828000-104828600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:104829400-104829600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:104833800-104834200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:104833800-104834400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:104833800-104834400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:104833800-104834400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:104834000-104834400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:104834000-104834400	Active TSS	Spleen	Spleen
20	chr5:104834400-104836200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:104836200-104837000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:104836200-104837200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:104836200-104837200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:104836200-104837200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr5:104836200-104837600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:104836400-104837400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:104837600-104845200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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