Variant report

Variant	nsv979317
Chromosome Location	chr2:126984121-127000655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112162320..112163164-chr2:126989298..126989817,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000116473	chromatin interactions

Extended variants
information (count: 353 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577735419	chr2:126984146-126984147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71413441	chr2:126984154-126984155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17013438	chr2:126984196-126984197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116569544	chr2:126984261-126984262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71876314	chr2:126984277-126984278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567288435	chr2:126984281-126984282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550663753	chr2:126984291-126984292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79450073	chr2:126984296-126984297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191658594	chr2:126984340-126984341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565569948	chr2:126984341-126984342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530115359	chr2:126984380-126984381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571685927	chr2:126984482-126984483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371278249	chr2:126984499-126984500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76647671	chr2:126984504-126984505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541055955	chr2:126984519-126984520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183117858	chr2:126984526-126984527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577714777	chr2:126984527-126984528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543204757	chr2:126984537-126984538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563481634	chr2:126984556-126984557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529168032	chr2:126984612-126984613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542964172	chr2:126984638-126984639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536127810	chr2:126984669-126984670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62158595	chr2:126984712-126984713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527668136	chr2:126984744-126984745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368577682	chr2:126984829-126984830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17013440	chr2:126984860-126984861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533478351	chr2:126984878-126984879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550075177	chr2:126984882-126984883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17013441	chr2:126984901-126984902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554412768	chr2:126984905-126984906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145211042	chr2:126984934-126984935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146423416	chr2:126984939-126984940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534321549	chr2:126984946-126984947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557737479	chr2:126985026-126985027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577624482	chr2:126985047-126985048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79590549	chr2:126985066-126985067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566319419	chr2:126985067-126985068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557165071	chr2:126985077-126985078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140858572	chr2:126985095-126985096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542874303	chr2:126985183-126985184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372376315	chr2:126985206-126985207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146791784	chr2:126985210-126985211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376773576	chr2:126985214-126985215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187033175	chr2:126985239-126985240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191872977	chr2:126985306-126985307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551976070	chr2:126985309-126985310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371412150	chr2:126985318-126985319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376114820	chr2:126985321-126985322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369887351	chr2:126985326-126985327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60180170	chr2:126985365-126985366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126981600-126986000	Weak transcription	Fetal Lung	lung
2	chr2:126986000-126986200	Enhancers	Fetal Lung	lung
3	chr2:126993200-126993800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:126993200-126993800	Enhancers	Brain Anterior Caudate	brain
5	chr2:126993200-126994600	Enhancers	Brain Germinal Matrix	brain
6	chr2:126995600-126995800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:126996400-126997200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:126996600-127000800	Enhancers	Fetal Lung	lung
9	chr2:126997000-126997400	Enhancers	Fetal Heart	heart
10	chr2:126997200-126998000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:126997400-126998000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:126997400-126998400	Weak transcription	Fetal Heart	heart
13	chr2:126997800-126998000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:126997800-126999800	Enhancers	Ovary	ovary
15	chr2:126998000-126999000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:126998000-126999000	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:126998400-126998600	Enhancers	Pancreas	Pancrea
18	chr2:126998400-126999800	Enhancers	Fetal Heart	heart
19	chr2:126998600-126999400	Weak transcription	Pancreas	Pancrea
20	chr2:126999000-126999600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:126999200-126999600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:126999400-126999600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:126999400-127000200	Enhancers	Pancreas	Pancrea

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