Variant report

Variant	nsv599659
Chromosome Location	chr5:124969756-125034613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:125033776..125036628-chr5:125040323..125041930,2	MCF-7	breast:
2	chr5:125020810..125022800-chr5:125023329..125025489,2	K562	blood:
3	chr5:125020810..125022800-chr5:125023329..125025489,2	K562	blood:
4	chr5:124963538..124965160-chr5:124973840..124975352,2	MCF-7	breast:

Extended variants
information (count: 2477 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2477 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142563357	chr5:124969820-124969821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557640686	chr5:124969837-124969838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540511865	chr5:124969893-124969894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147551262	chr5:124969910-124969911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553913178	chr5:124969921-124969922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77656012	chr5:124969931-124969932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141973846	chr5:124969938-124969939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145631056	chr5:124969955-124969956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147752307	chr5:124969982-124969983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565079245	chr5:124969983-124969984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189264964	chr5:124969991-124969992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373351377	chr5:124970028-124970029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550362235	chr5:124970035-124970036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181309354	chr5:124970058-124970059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141035306	chr5:124970089-124970090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74933448	chr5:124970098-124970099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566372433	chr5:124970161-124970162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533877485	chr5:124970175-124970176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558415184	chr5:124970177-124970178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567667362	chr5:124970217-124970218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570531500	chr5:124970245-124970246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35105093	chr5:124970274-124970275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539196686	chr5:124970295-124970296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112680376	chr5:124970357-124970358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72786830	chr5:124970366-124970367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575982605	chr5:124970391-124970392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556821619	chr5:124970396-124970397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193098367	chr5:124972012-124972013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547892724	chr5:124972024-124972025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140562889	chr5:124972031-124972032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185521051	chr5:124972063-124972064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145681015	chr5:124972067-124972068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189332071	chr5:124972069-124972070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568434900	chr5:124972102-124972103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535975475	chr5:124972105-124972106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553671184	chr5:124972115-124972116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192707347	chr5:124972150-124972151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546119366	chr5:124972155-124972156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184888940	chr5:124972184-124972185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369939548	chr5:124972194-124972195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543406242	chr5:124972237-124972238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561687007	chr5:124972297-124972298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188485962	chr5:124972310-124972311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541154033	chr5:124972318-124972319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75130879	chr5:124972368-124972369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527932471	chr5:124972374-124972375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181078253	chr5:124972388-124972389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570776512	chr5:124972433-124972434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146588177	chr5:124972445-124972446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141212266	chr5:124972456-124972457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	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
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124969800-124970000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:124969800-124970400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:124969800-124970400	Enhancers	HSMM	muscle
4	chr5:124969800-124970400	Enhancers	HUVEC	blood vessel
5	chr5:124972000-124978200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:124974000-124974600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:124974200-124974400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:124974200-124974600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:124974200-124974600	Enhancers	Psoas Muscle	Psoas
10	chr5:124974200-124974800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:124974200-124974800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:124974400-124974800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:124974400-124975200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:124974400-124975400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:124974400-124976000	Enhancers	Dnd41	blood
16	chr5:124974400-124978400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:124975400-124994800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:124978200-124978400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:124978400-124978600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:124978400-124978600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:124978400-124978800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:124978400-124979000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:124981200-124990200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:124989600-124991800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:124989600-124996800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:124990000-124990400	Enhancers	Brain Cingulate Gyrus	brain
27	chr5:124990000-124992000	Enhancers	Brain Hippocampus Middle	brain
28	chr5:124990000-124995200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:124990200-124990400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:124990200-124990400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:124990200-124990400	Enhancers	Brain Anterior Caudate	brain
32	chr5:124990200-124990400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr5:124990200-124990400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:124990200-124991000	Enhancers	Brain Angular Gyrus	brain
35	chr5:124990200-124991200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:124990200-124991600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:124990200-124991600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:124990200-124991800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:124990400-124990600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:124990400-124991000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:124990400-124991000	Weak transcription	Brain Anterior Caudate	brain
42	chr5:124990400-124991400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:124990400-124991800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:124990400-124993200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:124990600-124992800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:124990800-124991200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:124991000-124991200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:124991000-124991200	Enhancers	Brain Germinal Matrix	brain
49	chr5:124991000-124992000	Enhancers	Brain Anterior Caudate	brain
50	chr5:124991000-124992000	Enhancers	Brain Substantia Nigra	brain

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