Variant report

Variant	nsv508384
Chromosome Location	chr5:151438582-151487326
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:151471064..151473858-chr5:151493966..151496756,2	MCF-7	breast:
2	chr5:151455898..151457873-chr5:151461230..151462733,2	K562	blood:
3	chr5:151443718..151445789-chr5:151449556..151451745,2	K562	blood:
4	chr5:151471420..151474359-chr5:151488636..151491340,2	K562	blood:
5	chr5:151448044..151450792-chr5:151450881..151452825,2	MCF-7	breast:
6	chr5:151443903..151445789-chr5:151450245..151452999,2	K562	blood:
7	chr5:151448044..151450792-chr5:151450881..151452825,2	MCF-7	breast:
8	chr5:151455898..151457873-chr5:151461230..151462733,2	K562	blood:
9	chr5:151454167..151456163-chr5:151462520..151465246,3	K562	blood:
10	chr5:151455699..151457769-chr5:151461152..151464254,4	MCF-7	breast:
11	chr5:151454167..151456163-chr5:151462520..151465246,3	K562	blood:
12	chr5:151443903..151445789-chr5:151450245..151452999,2	K562	blood:
13	chr5:151443718..151445789-chr5:151449556..151451745,2	K562	blood:
14	chr5:151455699..151457769-chr5:151461152..151464254,4	MCF-7	breast:
15	chr5:151484112..151485634-chr5:151524575..151526562,2	K562	blood:

No data

Extended variants
information (count: 1499 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1499 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368901428	chr5:151438582-151438583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142031070	chr5:151438622-151438623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571707242	chr5:151438641-151438642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539043573	chr5:151438664-151438665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78198814	chr5:151438669-151438670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181374926	chr5:151438690-151438691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569591848	chr5:151438703-151438704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536819400	chr5:151438770-151438771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554900871	chr5:151438772-151438773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185904098	chr5:151438789-151438790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576621120	chr5:151438796-151438797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs154112	chr5:151438800-151438801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73797317	chr5:151438856-151438857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs17742283	chr5:151438869-151438870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543811626	chr5:151438874-151438875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562415495	chr5:151438931-151438932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190657393	chr5:151438959-151438960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76457377	chr5:151438983-151438984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201221966	chr5:151439001-151439002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11306512	chr5:151439002-151439003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200667290	chr5:151439004-151439005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184032658	chr5:151439021-151439022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528574593	chr5:151439055-151439056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547072927	chr5:151439057-151439058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368486970	chr5:151439063-151439064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565381496	chr5:151439123-151439124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187318730	chr5:151439187-151439188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551009282	chr5:151439201-151439202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569519144	chr5:151439202-151439203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536572636	chr5:151439210-151439211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190963601	chr5:151439224-151439225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566993966	chr5:151439254-151439255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150858743	chr5:151439259-151439260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541589464	chr5:151439292-151439293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558185434	chr5:151439293-151439294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576553210	chr5:151439305-151439306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527576011	chr5:151439357-151439358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374207410	chr5:151439372-151439373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138231429	chr5:151439382-151439383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552473303	chr5:151439388-151439389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377293158	chr5:151439413-151439414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377672599	chr5:151439436-151439437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555766536	chr5:151439464-151439465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574671835	chr5:151439466-151439467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149093	chr5:151439500-151439501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531578288	chr5:151439512-151439513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560403725	chr5:151439521-151439522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112470031	chr5:151439555-151439556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549825156	chr5:151439615-151439616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182624111	chr5:151439675-151439676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Parkinson disease	21829596	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151432600-151450000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:151436800-151441200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:151439800-151441800	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:151441200-151441800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:151445800-151447000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:151446000-151446800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:151446000-151447000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:151446200-151446800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:151446200-151446800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:151446200-151446800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:151446200-151447000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:151446200-151447000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:151446800-151447000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:151446800-151451600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:151446800-151452000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:151447000-151447400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:151447000-151451600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:151447000-151452000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:151447000-151452000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:151447400-151451600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:151450000-151450200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:151450200-151452000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:151450400-151452800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:151451000-151451200	Enhancers	Brain Germinal Matrix	brain
25	chr5:151451000-151453400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:151451200-151452000	Weak transcription	Brain Germinal Matrix	brain
27	chr5:151451400-151453600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:151451600-151452400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:151451600-151452400	Enhancers	Fetal Muscle Leg	muscle
30	chr5:151451600-151453000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:151451600-151453400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:151451800-151452200	Enhancers	NH-A	brain
33	chr5:151451800-151452600	Enhancers	Fetal Brain Female	brain
34	chr5:151452000-151452200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:151452000-151452200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:151452000-151452400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:151452000-151452800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:151452000-151453000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:151452000-151453600	Enhancers	Brain Germinal Matrix	brain
40	chr5:151452400-151452600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:151452600-151453000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:151452600-151453400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:151452600-151453800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:151452800-151453000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:151452800-151453400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:151455200-151455400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:151455400-151456200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:151456000-151456200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:151456200-151456400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr5:151456400-151456600	Active TSS	HUES64 Cell Line	embryonic stem cell

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