Variant report

Variant	nsv583233
Chromosome Location	chr2:142336104-142359850
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	chr2:142348226..142350841-chr2:142353391..142355433,2	MCF-7	breast:
2	chr2:142348226..142350841-chr2:142353391..142355433,2	MCF-7	breast:

Extended variants
information (count: 393 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:393 , 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	rs189980480	chr2:142338265-142338266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564563085	chr2:142338279-142338280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147774762	chr2:142338316-142338317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546804198	chr2:142338329-142338330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374306147	chr2:142338382-142338383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560486266	chr2:142338385-142338386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529321275	chr2:142338427-142338428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78823316	chr2:142338433-142338434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16846521	chr2:142338434-142338435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140310310	chr2:142338460-142338461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73965715	chr2:142338501-142338502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551546132	chr2:142338516-142338517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571399561	chr2:142338522-142338523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182595233	chr2:142338536-142338537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17734546	chr2:142338538-142338539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374716120	chr2:142338587-142338588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535868009	chr2:142338608-142338609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368768781	chr2:142338616-142338617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16846522	chr2:142338620-142338621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs62166482	chr2:142338692-142338693	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185877604	chr2:142338704-142338705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62166483	chr2:142338707-142338708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190593631	chr2:142338789-142338790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540687153	chr2:142338840-142338841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371418260	chr2:142338870-142338871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72855428	chr2:142338905-142338906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539770092	chr2:142338910-142338911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529256553	chr2:142338999-142339000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17734594	chr2:142339047-142339048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs72978011	chr2:142339067-142339068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546581480	chr2:142339149-142339150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551414978	chr2:142339154-142339155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373542312	chr2:142339179-142339180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72978012	chr2:142339184-142339185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369712414	chr2:142339198-142339199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544003598	chr2:142339219-142339220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76217856	chr2:142339230-142339231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527512264	chr2:142339242-142339243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547065285	chr2:142339278-142339279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563771807	chr2:142339349-142339350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567028461	chr2:142339368-142339369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373592134	chr2:142339427-142339428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs80111617	chr2:142339453-142339454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183060132	chr2:142339517-142339518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150383113	chr2:142339614-142339615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188861585	chr2:142339634-142339635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538506268	chr2:142339704-142339705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538512847	chr2:142339714-142339715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193117736	chr2:142339715-142339716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182661647	chr2:142339723-142339724	Enhancers	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142338200-142339600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr2:142338400-142338800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:142338400-142339000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:142338400-142339000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:142338400-142340000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:142338400-142340000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:142338600-142339400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:142338600-142340000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:142338600-142340000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:142338600-142340000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:142339200-142340000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:142339400-142340200	Enhancers	Fetal Heart	heart
13	chr2:142348400-142348800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:142351000-142351400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:142351400-142352200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:142352200-142353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:142353200-142353600	Enhancers	Fetal Lung	lung
18	chr2:142354600-142354800	Enhancers	Fetal Brain Male	brain
19	chr2:142355000-142356400	Weak transcription	Fetal Brain Male	brain
20	chr2:142356200-142359400	Enhancers	Fetal Heart	heart
21	chr2:142356400-142356600	Active TSS	HSMM	muscle
22	chr2:142356400-142356800	Enhancers	Fetal Brain Male	brain
23	chr2:142356600-142356800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:142356600-142356800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:142356600-142356800	Flanking Bivalent TSS/Enh	HSMM	muscle
26	chr2:142357600-142357800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:142358200-142358600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:142359200-142359400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:142359400-142367200	Weak transcription	H9 Cell Line	embryonic stem cell

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