Variant report

Variant	nsv882632
Chromosome Location	chr5:104789427-104880515
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:42792470..42793145-chr5:104821622..104822504,2	MCF-7	breast:
2	chr5:104805339..104808156-chr5:104810446..104813222,2	MCF-7	breast:
3	chr5:104833860..104836077-chr5:104839152..104841039,2	K562	blood:
4	chr1:184434764..184435543-chr5:104792004..104792524,3	MCF-7	breast:
5	chr5:104833860..104836077-chr5:104839152..104841039,2	K562	blood:
6	chr5:104805339..104808156-chr5:104810446..104813222,2	MCF-7	breast:
7	chr5:104727296..104728816-chr5:104790778..104793743,2	K562	blood:
8	chr5:104810915..104813579-chr5:104817384..104819206,2	MCF-7	breast:
9	chr4:114611671..114612572-chr5:104870661..104871343,2	MCF-7	breast:
10	chr5:104810915..104813579-chr5:104817384..104819206,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132874	chromatin interactions
ENSG00000251574	chromatin interactions

Extended variants
information (count: 1857 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1857 , 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	rs543171167	chr5:104790780-104790781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192670137	chr5:104790790-104790791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs528927687	chr5:104790796-104790797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547200569	chr5:104790854-104790855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559440498	chr5:104790889-104790890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13166429	chr5:104790910-104790911	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183651349	chr5:104790927-104790928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565400363	chr5:104790932-104790933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs56367164	chr5:104790976-104790977	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551170460	chr5:104790978-104790979	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567841440	chr5:104791029-104791030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536884269	chr5:104791037-104791038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189476709	chr5:104791090-104791091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373225699	chr5:104791133-104791134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538607266	chr5:104791135-104791136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558918918	chr5:104791152-104791153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114658377	chr5:104791155-104791156	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533851659	chr5:104791180-104791181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34228574	chr5:104791184-104791185	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556864380	chr5:104791217-104791218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139789168	chr5:104791234-104791235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542854590	chr5:104791254-104791255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559139490	chr5:104791269-104791270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572905123	chr5:104791305-104791306	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145311163	chr5:104791306-104791307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564919165	chr5:104791352-104791353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150979736	chr5:104791398-104791399	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs199812146	chr5:104791403-104791404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551283451	chr5:104791460-104791461	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140851532	chr5:104791480-104791481	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561605775	chr5:104791515-104791516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530311575	chr5:104791549-104791550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547172604	chr5:104791550-104791551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577305749	chr5:104791575-104791576	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs4580751	chr5:104791577-104791578	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539137195	chr5:104791580-104791581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150102137	chr5:104791599-104791600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549100098	chr5:104791602-104791603	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78930191	chr5:104791603-104791604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568888713	chr5:104791640-104791641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34758129	chr5:104791684-104791685	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534711825	chr5:104791691-104791692	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556833794	chr5:104791750-104791751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573601613	chr5:104791763-104791764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536019737	chr5:104791766-104791767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145517702	chr5:104791772-104791773	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112431069	chr5:104791814-104791815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572825233	chr5:104791888-104791889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181187441	chr5:104791898-104791899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs116387722	chr5:104791927-104791928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104796000-104801800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:104811600-104811800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:104817600-104817800	Enhancers	Liver	Liver
4	chr5:104817800-104818200	Active TSS	Liver	Liver
5	chr5:104820000-104820600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:104828000-104828600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:104829400-104829600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:104833800-104834200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:104833800-104834400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:104833800-104834400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:104833800-104834400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:104834000-104834400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:104834000-104834400	Active TSS	Spleen	Spleen
14	chr5:104834400-104836200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:104836200-104837000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:104836200-104837200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:104836200-104837200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:104836200-104837200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:104836200-104837600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:104836400-104837400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:104837600-104845200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:104844200-104844600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:104844400-104845800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:104844400-104846000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:104845200-104845400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:104845200-104845800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:104845200-104846200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:104845400-104845600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:104845400-104845800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:104845400-104846000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:104845600-104846000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:104845800-104846200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:104846200-104846600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:104846600-104847000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:104846800-104847200	Active TSS	Brain Hippocampus Middle	brain
36	chr5:104846800-104847200	Enhancers	Fetal Brain Female	brain
37	chr5:104854400-104855200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr5:104856600-104867600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:104865200-104866600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:104873600-104873800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:104873800-104874800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:104874800-104875200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:104874800-104875200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr5:104874800-104875600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:104875200-104879800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:104875600-104880000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:104879800-104880200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:104879800-104880400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:104880000-104880400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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