Variant report

Variant	nsv526712
Chromosome Location	chr2:140870484-140880629
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	chr2:140877979..140880874-chr2:140883604..140885311,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRP1B-2	chr2:140873960-140874013	XLOC_002340
2	lnc-LRP1B-2	chr2:140871611-140871673	XLOC_002340

Extended variants
information (count: 232 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542998276	chr2:140871612-140871613	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs556674553	chr2:140871613-140871614	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs576572700	chr2:140871663-140871664	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs545056443	chr2:140871672-140871673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs552873920	chr2:140873966-140873967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs572830628	chr2:140874021-140874022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575637005	chr2:140874024-140874025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145769176	chr2:140874129-140874130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561956867	chr2:140874137-140874138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530131900	chr2:140874198-140874199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543898533	chr2:140874290-140874291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188004462	chr2:140874334-140874335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532566143	chr2:140874344-140874345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548951456	chr2:140874347-140874348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567440577	chr2:140874355-140874356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544965169	chr2:140874369-140874370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537781383	chr2:140874395-140874396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552875123	chr2:140874447-140874448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566354302	chr2:140874465-140874466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528828559	chr2:140874493-140874494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548494817	chr2:140874501-140874502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148500630	chr2:140874507-140874508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574081929	chr2:140874533-140874534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557037136	chr2:140874563-140874564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12617016	chr2:140874590-140874591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539026006	chr2:140874653-140874654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552586968	chr2:140874686-140874687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572789612	chr2:140874720-140874721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542152037	chr2:140874758-140874759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142773018	chr2:140874776-140874777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116073781	chr2:140874832-140874833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192581832	chr2:140874838-140874839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563793630	chr2:140874846-140874847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376610569	chr2:140874904-140874905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539975904	chr2:140874930-140874931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17468870	chr2:140874933-140874934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546202747	chr2:140874947-140874948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559833600	chr2:140874948-140874949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538206334	chr2:140874965-140874966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375662726	chr2:140874971-140874972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548873207	chr2:140874976-140874977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185418181	chr2:140874996-140874997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114604261	chr2:140875089-140875090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550924490	chr2:140875150-140875151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188701189	chr2:140875160-140875161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539189919	chr2:140875180-140875181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151045431	chr2:140875216-140875217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12692035	chr2:140875226-140875227	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs367847604	chr2:140875259-140875260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368083187	chr2:140875295-140875296	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Mental retardation	17621639	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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:140874000-140875400	Enhancers	Fetal Kidney	kidney
2	chr2:140875400-140876400	Weak transcription	Fetal Kidney	kidney
3	chr2:140876200-140876800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:140876200-140877000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:140876200-140877000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:140876400-140876600	Enhancers	Fetal Kidney	kidney
7	chr2:140876400-140876800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:140876400-140877000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:140876400-140877000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:140876400-140878400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:140876600-140877000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:140876800-140878000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:140877000-140877600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:140877000-140877600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:140877600-140877800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:140877600-140877800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:140878000-140878400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:140879000-140879800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:140879400-140880400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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