Variant report

Variant	nsv458396
Chromosome Location	chr2:78743121-78782764
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:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78749283..78751187-chr2:78766195..78769118,2	K562	blood:
2	chr2:78763390..78765848-chr2:78770837..78772654,2	K562	blood:
3	chr2:78757382..78760241-chr2:78763266..78765631,3	K562	blood:
4	chr2:78748455..78750783-chr2:78766208..78769872,3	K562	blood:
5	chr2:78767623..78771004-chr2:78771071..78774505,4	K562	blood:
6	chr2:78758175..78760513-chr2:78766795..78770172,4	K562	blood:
7	chr2:78754724..78757697-chr2:78759967..78762678,2	K562	blood:
8	chr2:78760713..78763886-chr2:78766006..78769531,4	K562	blood:
9	chr2:78757382..78760241-chr2:78763266..78765631,3	K562	blood:
10	chr2:78764342..78767175-chr2:78767388..78769753,3	K562	blood:
11	chr2:78763390..78765848-chr2:78770837..78772654,2	K562	blood:
12	chr2:78747682..78749204-chr2:78751235..78753165,2	K562	blood:
13	chr2:78748455..78750783-chr2:78766208..78769872,3	K562	blood:
14	chr2:78753315..78756204-chr2:78756434..78759227,3	K562	blood:
15	chr2:78753644..78755915-chr2:78762930..78764798,2	K562	blood:
16	chr2:78757382..78759632-chr2:78763770..78765631,2	K562	blood:
17	chr2:78757382..78759632-chr2:78763770..78765631,2	K562	blood:
18	chr2:78753315..78756204-chr2:78756434..78759227,3	K562	blood:
19	chr2:78753644..78755915-chr2:78762930..78764798,2	K562	blood:
20	chr2:78749283..78751187-chr2:78766195..78769118,2	K562	blood:
21	chr2:78764342..78767175-chr2:78767388..78769753,3	K562	blood:
22	chr2:78754724..78757697-chr2:78759967..78762678,2	K562	blood:
23	chr2:78760713..78763886-chr2:78766006..78769531,4	K562	blood:
24	chr2:78758175..78760513-chr2:78766795..78770172,4	K562	blood:
25	chr2:78747682..78749204-chr2:78751235..78753165,2	K562	blood:
26	chr2:78607954..78609567-chr2:78764622..78766807,2	K562	blood:
27	chr2:78637554..78639977-chr2:78766787..78768860,2	K562	blood:
28	chr2:78757746..78759593-chr2:78760863..78763022,2	K562	blood:
29	chr2:78757746..78759593-chr2:78760863..78763022,2	K562	blood:
30	chr2:78767623..78771004-chr2:78771071..78774505,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78768698-78769292	NONHSAT071835
2	lnc-LRRTM4-3	chr2:78768698-78769187	NONHSAT071846

No data

Extended variants
information (count: 1142 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1142 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10211110	chr2:78743121-78743122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375549920	chr2:78743194-78743195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530398911	chr2:78743261-78743262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188656201	chr2:78743268-78743269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1521509	chr2:78743332-78743333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192667330	chr2:78743372-78743373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533255573	chr2:78743373-78743374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546866344	chr2:78743415-78743416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184763847	chr2:78743489-78743490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188308543	chr2:78743537-78743538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191277246	chr2:78743582-78743583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183719533	chr2:78743600-78743601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549175971	chr2:78743607-78743608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569235589	chr2:78743636-78743637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1521508	chr2:78743679-78743680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558120687	chr2:78743721-78743722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571651283	chr2:78743744-78743745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534200710	chr2:78743806-78743807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553978257	chr2:78743814-78743815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189688031	chr2:78743815-78743816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181334802	chr2:78743821-78743822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555123528	chr2:78743852-78743853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185324110	chr2:78743895-78743896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147473568	chr2:78743899-78743900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372901186	chr2:78743912-78743913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544151725	chr2:78743967-78743968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543911634	chr2:78743987-78743988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564070516	chr2:78743988-78743989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201522924	chr2:78744039-78744040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190079704	chr2:78744051-78744052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560407005	chr2:78744062-78744063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148749839	chr2:78744078-78744079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202004846	chr2:78744079-78744080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549464445	chr2:78744083-78744084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201735861	chr2:78744084-78744085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139885568	chr2:78744099-78744100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201956984	chr2:78744110-78744111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140116433	chr2:78744117-78744118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557469957	chr2:78744121-78744122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572464693	chr2:78744131-78744132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186148546	chr2:78744132-78744133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76925832	chr2:78744164-78744165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10173598	chr2:78744165-78744166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534235310	chr2:78744178-78744179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5832335	chr2:78744179-78744180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72810630	chr2:78744180-78744181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12466362	chr2:78744182-78744183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3034637	chr2:78744190-78744191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397835725	chr2:78744194-78744195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571102492	chr2:78744244-78744245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78742800-78749400	Weak transcription	HepG2	liver
2	chr2:78748200-78748600	Active TSS	K562	blood
3	chr2:78748600-78748800	Weak transcription	K562	blood
4	chr2:78748800-78749400	Enhancers	K562	blood
5	chr2:78749400-78750400	Enhancers	HepG2	liver
6	chr2:78750400-78752800	Weak transcription	HepG2	liver
7	chr2:78751800-78752000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:78752600-78753400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:78752800-78753200	Enhancers	HepG2	liver
10	chr2:78752800-78753400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:78753200-78753600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:78753200-78758800	Weak transcription	HepG2	liver
13	chr2:78753400-78759600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:78753600-78758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:78756200-78756400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:78756200-78756400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr2:78756600-78757800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:78757800-78758000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:78757800-78758200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:78757800-78758200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:78757800-78759200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr2:78757800-78759200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr2:78758000-78758400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:78758000-78758400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:78758200-78759200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:78758200-78759600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:78758400-78759200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:78758800-78759600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:78758800-78759800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:78758800-78760600	Enhancers	HepG2	liver
31	chr2:78759000-78761200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:78759200-78759400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:78759200-78759600	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:78759200-78759600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr2:78759200-78759800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:78759200-78761200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:78759200-78761200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:78759400-78759800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:78759400-78760400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:78759600-78760200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:78759600-78760200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:78759600-78760400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:78759600-78760400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr2:78759600-78760800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:78759800-78760200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr2:78759800-78760400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr2:78759800-78761000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr2:78759800-78761200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:78760200-78761400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:78760400-78761000	Enhancers	HUES48 Cell Line	embryonic stem cell

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