Variant report

Variant	nsv875210
Chromosome Location	chr2:141764693-141818657
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	chr2:141785789..141788273-chr2:141812722..141815557,2	MCF-7	breast:
2	chr2:141785789..141788273-chr2:141812722..141815557,2	MCF-7	breast:

Extended variants
information (count: 2107 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2107 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147436354	chr2:141766236-141766237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181111207	chr2:141766290-141766291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139127270	chr2:141766304-141766305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554094508	chr2:141766318-141766319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149518340	chr2:141766354-141766355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571577567	chr2:141766470-141766471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534283083	chr2:141766499-141766500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116394918	chr2:141766552-141766553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184877664	chr2:141766581-141766582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535995330	chr2:141766590-141766591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555981220	chr2:141766605-141766606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575929079	chr2:141766639-141766640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189757386	chr2:141766661-141766662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144286051	chr2:141766689-141766690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571913801	chr2:141766719-141766720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541045578	chr2:141766749-141766750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181773324	chr2:141766754-141766755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12623113	chr2:141766798-141766799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111901989	chr2:141766849-141766850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7607347	chr2:141766952-141766953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532019356	chr2:141767038-141767039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147481610	chr2:141767043-141767044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552135799	chr2:141767132-141767133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115098324	chr2:141767162-141767163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148755098	chr2:141767171-141767172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547772811	chr2:141767179-141767180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567613562	chr2:141767209-141767210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536395218	chr2:141767242-141767243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374560273	chr2:141767260-141767261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376866843	chr2:141767283-141767284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569551129	chr2:141767352-141767353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143708433	chr2:141767359-141767360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7569762	chr2:141767365-141767366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139539881	chr2:141767370-141767371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534284708	chr2:141767378-141767379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72849535	chr2:141767402-141767403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190917948	chr2:141767406-141767407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543568496	chr2:141767407-141767408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572463003	chr2:141767422-141767423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144471200	chr2:141767467-141767468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563433292	chr2:141767544-141767545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536319850	chr2:141767588-141767589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554621726	chr2:141767676-141767677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72975015	chr2:141767763-141767764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78122907	chr2:141767783-141767784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527996517	chr2:141767815-141767816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566964387	chr2:141767852-141767853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547465919	chr2:141767904-141767905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35659196	chr2:141767955-141767956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200131668	chr2:141768093-141768094	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Bipolar disorder	19114987	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141766200-141768200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:141766400-141767800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:141766600-141767800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:141766600-141768200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:141766800-141767400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:141766800-141767600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:141771000-141771400	Enhancers	Fetal Lung	lung
8	chr2:141771400-141772800	Weak transcription	Fetal Lung	lung
9	chr2:141771800-141774600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:141772200-141772600	Enhancers	Brain Anterior Caudate	brain
11	chr2:141772200-141773000	Enhancers	Brain Angular Gyrus	brain
12	chr2:141772200-141773200	Enhancers	HSMMtube	muscle
13	chr2:141772200-141774400	Enhancers	Fetal Heart	heart
14	chr2:141772200-141774600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:141772200-141774600	Enhancers	Brain Hippocampus Middle	brain
16	chr2:141772400-141772800	Enhancers	Fetal Brain Female	brain
17	chr2:141772400-141773200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:141772400-141773600	Enhancers	HSMM	muscle
19	chr2:141772400-141773800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:141772400-141774200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:141772600-141773000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:141772600-141773600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:141772600-141773800	Enhancers	Brain Substantia Nigra	brain
24	chr2:141772800-141773800	Enhancers	Fetal Lung	lung
25	chr2:141773000-141773400	Weak transcription	Brain Angular Gyrus	brain
26	chr2:141773000-141773600	Enhancers	Psoas Muscle	Psoas
27	chr2:141773000-141773800	Enhancers	Brain Anterior Caudate	brain
28	chr2:141773000-141774000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:141773000-141774400	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:141773200-141773600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:141773200-141773600	Flanking Active TSS	HSMMtube	muscle
32	chr2:141773400-141773600	Enhancers	Brain Angular Gyrus	brain
33	chr2:141773600-141773800	Enhancers	HSMMtube	muscle
34	chr2:141773600-141774200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:141773600-141777400	Weak transcription	HSMM	muscle
36	chr2:141773600-141806800	Weak transcription	Brain Angular Gyrus	brain
37	chr2:141773800-141774400	Weak transcription	Brain Substantia Nigra	brain
38	chr2:141773800-141775600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:141773800-141778400	Weak transcription	HSMMtube	muscle
40	chr2:141774200-141785000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:141774400-141774600	Enhancers	Brain Substantia Nigra	brain
42	chr2:141774600-141779800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:141775600-141777200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:141777200-141777600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:141777400-141778400	Enhancers	HSMM	muscle
46	chr2:141777400-141779600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:141777400-141780400	Enhancers	HMEC	breast
48	chr2:141777600-141778400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:141777600-141778800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:141777600-141779600	Enhancers	NHEK	skin

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