Variant report

Variant	nsv428710
Chromosome Location	chr2:78451500-78602039
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78578454..78579130-chr2:79226516..79227199,2	MCF-7	breast:
2	chr2:78552005..78554249-chr2:78556086..78558009,2	K562	blood:
3	chr2:78577613..78578539-chr2:79206466..79207847,3	MCF-7	breast:
4	chr2:78578903..78584135-chr2:78585848..78590226,6	K562	blood:
5	chr2:78552005..78554249-chr2:78556086..78558009,2	K562	blood:
6	chr2:78538765..78541253-chr2:78550718..78553114,2	K562	blood:
7	chr2:78538765..78541253-chr2:78550718..78553114,2	K562	blood:
8	chr2:78519747..78522682-chr2:78785137..78786876,2	K562	blood:
9	chr2:78578903..78584135-chr2:78585848..78590226,6	K562	blood:
10	chr2:78578299..78578916-chr2:79206809..79207351,2	MCF-7	breast:
11	chr2:78577011..78577791-chr8:96157456..96158424,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78517514-78517857	NR_110288

No data

Extended variants
information (count: 2444 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2444 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11899797	chr2:78451551-78451552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186603944	chr2:78451553-78451554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192927409	chr2:78451565-78451566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376980907	chr2:78451634-78451635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546058576	chr2:78451663-78451664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537509720	chr2:78451715-78451716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184934729	chr2:78451716-78451717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188245493	chr2:78451719-78451720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559487288	chr2:78451742-78451743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141959448	chr2:78451764-78451765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116030439	chr2:78451795-78451796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573480982	chr2:78451878-78451879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553161324	chr2:78451885-78451886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1347725	chr2:78451939-78451940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531029309	chr2:78451940-78451941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545138552	chr2:78451970-78451971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544428736	chr2:78451971-78451972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563028701	chr2:78451985-78451986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112417821	chr2:78452040-78452041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532147545	chr2:78452060-78452061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557033751	chr2:78452092-78452093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552147555	chr2:78452136-78452137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373380921	chr2:78452162-78452163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528347533	chr2:78452183-78452184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546135409	chr2:78452189-78452190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530373918	chr2:78452216-78452217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568234952	chr2:78452242-78452243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192958666	chr2:78452274-78452275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6740133	chr2:78452277-78452278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570950801	chr2:78452310-78452311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150178480	chr2:78452317-78452318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202041410	chr2:78452415-78452416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553288142	chr2:78452416-78452417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368403985	chr2:78452444-78452445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185221136	chr2:78452470-78452471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557803584	chr2:78452481-78452482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542478112	chr2:78452499-78452500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555616897	chr2:78452579-78452580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189388368	chr2:78452689-78452690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149312165	chr2:78452703-78452704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564386556	chr2:78452717-78452718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77444334	chr2:78452739-78452740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192386475	chr2:78452762-78452763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559268262	chr2:78452782-78452783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528756860	chr2:78452783-78452784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548236262	chr2:78452811-78452812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540551670	chr2:78452816-78452817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530869133	chr2:78452822-78452823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1526382	chr2:78452934-78452935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570560391	chr2:78452985-78452986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78448200-78453200	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:78453200-78454000	ZNF genes & repeats	Brain Hippocampus Middle	brain
3	chr2:78454000-78454400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:78459800-78472400	Weak transcription	HepG2	liver
5	chr2:78460800-78462000	Enhancers	Brain Substantia Nigra	brain
6	chr2:78467000-78467200	Enhancers	Brain Hippocampus Middle	brain
7	chr2:78467000-78468000	Weak transcription	Brain Substantia Nigra	brain
8	chr2:78467200-78468600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:78467200-78469000	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:78468000-78469200	Enhancers	Brain Substantia Nigra	brain
11	chr2:78468600-78469000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:78468600-78469000	Enhancers	Brain Hippocampus Middle	brain
13	chr2:78469000-78472800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:78472400-78473200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:78472400-78473200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:78472400-78473400	Enhancers	HepG2	liver
17	chr2:78472600-78473000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:78472800-78473200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:78472800-78473200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:78472800-78473200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:78472800-78473200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:78472800-78473200	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr2:78472800-78473600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:78473000-78473400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:78478200-78479000	Weak transcription	Brain Substantia Nigra	brain
26	chr2:78479000-78479200	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr2:78479200-78479400	Weak transcription	Brain Substantia Nigra	brain
28	chr2:78485800-78486000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:78485800-78486000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:78486400-78487600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:78487000-78488200	Enhancers	HepG2	liver
32	chr2:78487200-78489000	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:78487400-78489000	Enhancers	Brain Hippocampus Middle	brain
34	chr2:78487600-78488800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:78487600-78491600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:78487800-78488800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:78488000-78488200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:78488000-78489000	Enhancers	Brain Substantia Nigra	brain
39	chr2:78488200-78488600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:78488200-78489000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:78488200-78489600	Flanking Active TSS	HepG2	liver
42	chr2:78488400-78488800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:78488400-78488800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:78488600-78488800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:78488800-78489000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:78488800-78490000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:78488800-78492200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:78489000-78490000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:78489000-78491400	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:78489000-78491400	Weak transcription	Brain Substantia Nigra	brain

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