Variant report

Variant	nsv522203
Chromosome Location	chr2:142134134-142141415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 292 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10207976	chr2:142134134-142134135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545573451	chr2:142134176-142134177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544453039	chr2:142134177-142134178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546722358	chr2:142134189-142134190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191048917	chr2:142134190-142134191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114050956	chr2:142134203-142134204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540587707	chr2:142134210-142134211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371260221	chr2:142134235-142134236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148021367	chr2:142134237-142134238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116381515	chr2:142134321-142134322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368767958	chr2:142134379-142134380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72846803	chr2:142134380-142134381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35937023	chr2:142134398-142134399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10208287	chr2:142134407-142134408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs141743926	chr2:142134411-142134412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551634779	chr2:142134490-142134491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564945438	chr2:142134502-142134503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527451958	chr2:142134525-142134526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183369702	chr2:142134539-142134540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567508507	chr2:142134592-142134593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187221541	chr2:142134622-142134623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367724882	chr2:142134623-142134624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549365402	chr2:142134658-142134659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116163946	chr2:142134672-142134673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192124260	chr2:142134693-142134694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183013521	chr2:142134771-142134772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548562153	chr2:142134777-142134778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532483819	chr2:142134794-142134795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78283203	chr2:142134849-142134850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554179249	chr2:142134863-142134864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574384162	chr2:142134884-142134885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543072231	chr2:142134913-142134914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547839697	chr2:142134937-142134938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562853777	chr2:142134943-142134944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369647694	chr2:142134981-142134982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376230593	chr2:142135067-142135068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566577897	chr2:142135073-142135074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377053439	chr2:142135080-142135081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576469810	chr2:142135100-142135101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78500618	chr2:142135156-142135157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368249946	chr2:142135158-142135159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533973794	chr2:142135170-142135171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549049447	chr2:142135180-142135181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138834757	chr2:142135295-142135296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187743264	chr2:142135358-142135359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1402479	chr2:142135410-142135411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561078280	chr2:142135424-142135425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79543014	chr2:142135463-142135464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549401831	chr2:142135480-142135481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557024626	chr2:142135565-142135566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142132600-142135400	Weak transcription	Brain Substantia Nigra	brain
2	chr2:142133600-142137000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:142135400-142135800	Enhancers	Brain Substantia Nigra	brain
4	chr2:142135400-142136000	Enhancers	Dnd41	blood
5	chr2:142135400-142136200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:142136000-142138400	Flanking Active TSS	Dnd41	blood
7	chr2:142136200-142139600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:142137000-142138600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:142137000-142138600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:142137400-142138200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:142137800-142138400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:142137800-142138600	Enhancers	Fetal Thymus	thymus
13	chr2:142138000-142138400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:142138000-142138400	Enhancers	Brain Anterior Caudate	brain
15	chr2:142138000-142138600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:142138400-142139400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:142138400-142143200	Enhancers	Dnd41	blood
18	chr2:142138600-142139600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:142139600-142139800	Enhancers	Brain Anterior Caudate	brain
20	chr2:142139600-142140000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:142139600-142140200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:142140000-142142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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