Variant report

Variant	nsv599226
Chromosome Location	chr5:104267193-104334555
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:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104308244..104309781-chr5:104310392..104313289,2	K562	blood:
2	chr5:104294786..104295742-chr9:99125283..99126098,2	MCF-7	breast:
3	chr5:104277822..104279427-chr5:104300449..104302157,2	MCF-7	breast:
4	chr5:104270441..104272983-chr5:104273696..104275223,2	K562	blood:
5	chr5:104308244..104309781-chr5:104310392..104313289,2	K562	blood:
6	chr17:57921408..57924296-chr5:104291652..104294224,2	MCF-7	breast:
7	chr5:104296966..104298915-chr5:104301513..104303519,2	K562	blood:
8	chr5:104270441..104272983-chr5:104273696..104275223,2	K562	blood:
9	chr5:104277822..104279427-chr5:104300449..104302157,2	MCF-7	breast:
10	chr5:104271936..104274851-chr5:104276428..104278480,3	MCF-7	breast:
11	chr5:104302225..104304920-chr5:104306783..104309637,2	MCF-7	breast:
12	chr5:104256936..104259316-chr5:104275958..104278631,2	K562	blood:
13	chr5:104296966..104298915-chr5:104301513..104303519,2	K562	blood:
14	chr5:104271936..104274851-chr5:104276428..104278480,3	MCF-7	breast:
15	chr5:104245189..104247786-chr5:104277262..104279951,2	MCF-7	breast:
16	chr5:104302225..104304920-chr5:104306783..104309637,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-7	chr5:104315392-104315477	ENSG00000253584
2	lnc-NUDT12-7	chr5:104311375-104311586	ENSG00000253584
3	lnc-NUDT12-7	chr5:104308988-104309359	ENSG00000253584

No data

Variant related genes	Relation type
ENSG00000251574	chromatin interactions

Extended variants
information (count: 926 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12519363	chr5:104267193-104267194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78849429	chr5:104267194-104267195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185280460	chr5:104267201-104267202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188531146	chr5:104267202-104267203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543093171	chr5:104267204-104267205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181564675	chr5:104267219-104267220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529446999	chr5:104267226-104267227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549414664	chr5:104267254-104267255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566410037	chr5:104267349-104267350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12518848	chr5:104267399-104267400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573386043	chr5:104267438-104267439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371251062	chr5:104267462-104267463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551784677	chr5:104267538-104267539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186682767	chr5:104267561-104267562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113464921	chr5:104267618-104267619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551062360	chr5:104267674-104267675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75171037	chr5:104267693-104267694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181990505	chr5:104267714-104267715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559451162	chr5:104267762-104267763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186488935	chr5:104267764-104267765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377727463	chr5:104267815-104267816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534717249	chr5:104267821-104267822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189689689	chr5:104267825-104267826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553058766	chr5:104267867-104267868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182320275	chr5:104267882-104267883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117724092	chr5:104267889-104267890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62368229	chr5:104267896-104267897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs62368230	chr5:104267920-104267921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs151046953	chr5:104267975-104267976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71588379	chr5:104268059-104268060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186980227	chr5:104268116-104268117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578007855	chr5:104268194-104268195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57589082	chr5:104268198-104268199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191154496	chr5:104268207-104268208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367591376	chr5:104268210-104268211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552072684	chr5:104268214-104268215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565293778	chr5:104268246-104268247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140391359	chr5:104268253-104268254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371349046	chr5:104268292-104268293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575477237	chr5:104268294-104268295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183415406	chr5:104268303-104268304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13164186	chr5:104268322-104268323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150383583	chr5:104268323-104268324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565716607	chr5:104268327-104268328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534941096	chr5:104268333-104268334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114251987	chr5:104268344-104268345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563928223	chr5:104268349-104268350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34830662	chr5:104268373-104268374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577221220	chr5:104268392-104268393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs59607729	chr5:104268406-104268407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Myelofibrosis	22110671	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
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104265200-104268200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:104268200-104268400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:104268200-104268400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:104268400-104268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:104277200-104277400	Enhancers	Fetal Intestine Large	intestine
6	chr5:104277200-104277400	Enhancers	Fetal Intestine Small	intestine
7	chr5:104277400-104278400	Weak transcription	Fetal Intestine Large	intestine
8	chr5:104277600-104283000	Weak transcription	Fetal Intestine Small	intestine
9	chr5:104277800-104278600	Enhancers	Hela-S3	cervix
10	chr5:104278200-104278800	Enhancers	Colon Smooth Muscle	Colon
11	chr5:104278400-104279200	Enhancers	Fetal Intestine Large	intestine
12	chr5:104279200-104283000	Weak transcription	Fetal Intestine Large	intestine
13	chr5:104283000-104283800	Enhancers	Fetal Intestine Large	intestine
14	chr5:104283000-104283800	Enhancers	Fetal Intestine Small	intestine
15	chr5:104283800-104287800	Weak transcription	Fetal Intestine Small	intestine
16	chr5:104287400-104288000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:104287600-104287800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:104287600-104288000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:104288000-104290600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:104307400-104307600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:104310000-104310200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:104310000-104310600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:104310200-104310600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:104310600-104312800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:104310600-104312800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:104312800-104313200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:104312800-104313400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:104312800-104313600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:104313000-104313600	Enhancers	Aorta	Aorta
30	chr5:104321200-104321400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:104322000-104322200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:104322000-104323400	Enhancers	Fetal Intestine Small	intestine
33	chr5:104322000-104323600	Enhancers	Fetal Intestine Large	intestine
34	chr5:104322600-104324600	Enhancers	K562	blood
35	chr5:104324800-104326000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:104325200-104326400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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