Variant report

Variant	nsv292150
Chromosome Location	chr4:27931917-27936331
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	chr22:29572893..29574500-chr4:27935942..27938395,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STIM2-3	chr4:27932803-27932960	XLOC_003486
2	lnc-STIM2-3	chr4:27932803-27933056	XLOC_003486
3	lnc-STIM2-3	chr4:27932802-27933056	NONHSAT095904

Extended variants
information (count: 64 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192250329	chr4:27931971-27931972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547831681	chr4:27931984-27931985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373300616	chr4:27931985-27931986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570962230	chr4:27932044-27932045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533572224	chr4:27932074-27932075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547635669	chr4:27932172-27932173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538388280	chr4:27932203-27932204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569998735	chr4:27932206-27932207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535109735	chr4:27932213-27932214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141670145	chr4:27932260-27932261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554965106	chr4:27932345-27932346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565303122	chr4:27932374-27932375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80231553	chr4:27932377-27932378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79457127	chr4:27932387-27932388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577807015	chr4:27932400-27932401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61791079	chr4:27932513-27932514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184361935	chr4:27932518-27932519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573958312	chr4:27932527-27932528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10019265	chr4:27932584-27932585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34838285	chr4:27932642-27932643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562079012	chr4:27932671-27932672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527639636	chr4:27932761-27932762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187209605	chr4:27932769-27932770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150518229	chr4:27932800-27932801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116099541	chr4:27932810-27932811	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs549941513	chr4:27932818-27932819	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs569887567	chr4:27932828-27932829	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs9999115	chr4:27932856-27932857	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs80236459	chr4:27932869-27932870	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs10021732	chr4:27932870-27932871	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192996915	chr4:27932882-27932883	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs550664383	chr4:27932885-27932886	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs373502016	chr4:27932888-27932889	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs558313588	chr4:27932941-27932942	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs140296051	chr4:27933002-27933003	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs11933309	chr4:27933024-27933025	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557212474	chr4:27933027-27933028	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs573845055	chr4:27933031-27933032	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs542947720	chr4:27933048-27933049	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs553302283	chr4:27933070-27933071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184758441	chr4:27933087-27933088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558685227	chr4:27933154-27933155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572088921	chr4:27933155-27933156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541121552	chr4:27933196-27933197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142898578	chr4:27933211-27933212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189580624	chr4:27933220-27933221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543477279	chr4:27933270-27933271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540446681	chr4:27933297-27933298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180728565	chr4:27933319-27933320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184769232	chr4:27933320-27933321	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27931000-27933000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:27933000-27933600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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