Variant report

Variant	nsv583210
Chromosome Location	chr2:142259592-142295042
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142259500..142260427-chr2:142322823..142323400,2	MCF-7	breast:
2	chr2:142263240..142267352-chr2:142886657..142889435,3	MCF-7	breast:
3	chr2:142265321..142267918-chr2:142664161..142666622,2	MCF-7	breast:
4	chr2:142223533..142226548-chr2:142266133..142269163,3	MCF-7	breast:
5	chr2:142259654..142261746-chr2:142265611..142267711,3	MCF-7	breast:
6	chr2:142285408..142288288-chr2:142294613..142297064,2	MCF-7	breast:
7	chr2:142241833..142244486-chr2:142265674..142268047,2	MCF-7	breast:
8	chr2:142267758..142272921-chr2:142273064..142275767,4	MCF-7	breast:
9	chr2:142225007..142227143-chr2:142273674..142276575,2	MCF-7	breast:
10	chr2:142261934..142264280-chr2:142265309..142267485,3	MCF-7	breast:
11	chr2:142291504..142294290-chr2:142295014..142296558,2	MCF-7	breast:
12	chr2:142260415..142263091-chr2:142286815..142289016,3	MCF-7	breast:
13	chr2:142259654..142261746-chr2:142265611..142267711,3	MCF-7	breast:
14	chr2:142285408..142288288-chr2:142294613..142297064,2	MCF-7	breast:
15	chr2:142248367..142251172-chr2:142262537..142266743,4	MCF-7	breast:
16	chr2:142265220..142267079-chr2:142275773..142278354,2	MCF-7	breast:
17	chr2:142261934..142264280-chr2:142265309..142267485,3	MCF-7	breast:
18	chr2:142259034..142262033-chr2:142268324..142270584,3	MCF-7	breast:
19	chr2:142260948..142262730-chr2:142271665..142273452,2	MCF-7	breast:
20	chr2:142291504..142294290-chr2:142295014..142296558,2	MCF-7	breast:
21	chr11:62609066..62609640-chr2:142273282..142274142,2	NB4	blood:
22	chr2:142267758..142272921-chr2:142273064..142275767,4	MCF-7	breast:
23	chr2:142259034..142262033-chr2:142268324..142270584,3	MCF-7	breast:
24	chr2:142288498..142290059-chr2:142292199..142295076,2	MCF-7	breast:
25	chr2:142224840..142226819-chr2:142260426..142263186,2	MCF-7	breast:
26	chr2:142267530..142270120-chr2:142367084..142369508,2	MCF-7	breast:
27	chr2:142288498..142290059-chr2:142292199..142295076,2	MCF-7	breast:
28	chr2:142260948..142262730-chr2:142271665..142273452,2	MCF-7	breast:
29	chr2:142257639..142260616-chr2:142261708..142263676,2	MCF-7	breast:
30	chr2:142257639..142260616-chr2:142261708..142263676,2	MCF-7	breast:
31	chr2:142260415..142263091-chr2:142286815..142289016,3	MCF-7	breast:
32	chr2:142265220..142267079-chr2:142275773..142278354,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133316	chromatin interactions
ENSG00000168702	chromatin interactions

Extended variants
information (count: 1367 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1367 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6745610	chr2:142259592-142259593	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13416127	chr2:142259607-142259608	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs143914356	chr2:142259630-142259631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529788637	chr2:142259648-142259649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190487103	chr2:142259747-142259748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146836619	chr2:142259780-142259781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538661179	chr2:142259905-142259906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557524026	chr2:142259955-142259956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569145206	chr2:142259972-142259973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571979839	chr2:142259990-142259991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534345273	chr2:142259994-142259995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374738569	chr2:142260002-142260003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182976360	chr2:142260030-142260031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186192607	chr2:142260047-142260048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567802384	chr2:142260048-142260049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549869295	chr2:142260060-142260061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7583765	chr2:142260155-142260156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35187841	chr2:142260186-142260187	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575997981	chr2:142260194-142260195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386651256	chr2:142260196-142260197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386651257	chr2:142260197-142260198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558388092	chr2:142260198-142260199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190958543	chr2:142260204-142260205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145531806	chr2:142260225-142260226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13419140	chr2:142260256-142260257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576546262	chr2:142260299-142260300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182461941	chr2:142260352-142260353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187881398	chr2:142260359-142260360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6749472	chr2:142260382-142260383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6749551	chr2:142260405-142260406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552207264	chr2:142260418-142260419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66690773	chr2:142260426-142260427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148858379	chr2:142260432-142260433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201000467	chr2:142260433-142260434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575713297	chr2:142260436-142260437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34265330	chr2:142260439-142260440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6705557	chr2:142260451-142260452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376086501	chr2:142260452-142260453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115488848	chr2:142260468-142260469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368473001	chr2:142260496-142260497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547810613	chr2:142260510-142260511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115146488	chr2:142260711-142260712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4271711	chr2:142260739-142260740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556584563	chr2:142260746-142260747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569615811	chr2:142260750-142260751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137917295	chr2:142260761-142260762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368411668	chr2:142260781-142260782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5834840	chr2:142260819-142260820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201372400	chr2:142260827-142260828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369779711	chr2:142260828-142260829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:142256400-142263600	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:142257800-142265800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:142258000-142265800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:142258800-142260200	Enhancers	Dnd41	blood
6	chr2:142259000-142259600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:142259000-142259800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:142259000-142260200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:142259200-142259800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:142259600-142259800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:142259600-142259800	Enhancers	Fetal Brain Male	brain
12	chr2:142259800-142261000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:142259800-142262600	Weak transcription	Fetal Brain Male	brain
14	chr2:142260000-142261000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:142260200-142263400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:142261000-142261600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:142261000-142261800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:142261200-142261400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:142261600-142263400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:142262600-142264200	Enhancers	Fetal Brain Male	brain
21	chr2:142263400-142264000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:142263400-142264200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:142263600-142264000	Enhancers	Brain Hippocampus Middle	brain
24	chr2:142263600-142264000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:142264000-142265800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:142264000-142266600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:142264000-142268000	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:142264200-142266600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:142265800-142266600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:142265800-142266600	Enhancers	Brain Substantia Nigra	brain
31	chr2:142265800-142266800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:142266000-142267200	Enhancers	A549	lung
33	chr2:142266200-142267600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:142266200-142267600	Enhancers	Brain Anterior Caudate	brain
35	chr2:142266400-142267200	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:142266600-142266800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:142266600-142266800	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr2:142266600-142267000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:142266600-142268800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:142266800-142267000	Enhancers	Brain Substantia Nigra	brain
41	chr2:142267000-142267200	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr2:142268000-142268200	Enhancers	Brain Hippocampus Middle	brain
43	chr2:142268800-142269000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:142271000-142272200	Enhancers	GM12878-XiMat	blood
45	chr2:142273400-142274000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:142274000-142277000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:142274800-142275800	Active TSS	A549	lung
48	chr2:142274800-142275800	Enhancers	HepG2	liver
49	chr2:142276600-142277200	Enhancers	Brain Substantia Nigra	brain
50	chr2:142277000-142277800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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