Variant report

Variant	nsv1005430
Chromosome Location	chr4:19932874-20013705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLIT2-4	chr4:20002917-20002984	ucscGeneNc_uc003gpt_2
2	lnc-SLIT2-4	chr4:20004071-20004174	ucscGeneNc_uc003gpt_2
3	lnc-SLIT2-4	chr4:20005250-20005576	ucscGeneNc_uc003gpt_2
4	lnc-SLIT2-4	chr4:20004287-20004380	ucscGeneNc_uc003gpt_2

Extended variants
information (count: 1753 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1753 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578040869	chr4:19937614-19937615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73240122	chr4:19937660-19937661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553769883	chr4:19937740-19937741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16868933	chr4:19937742-19937743	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114371571	chr4:19937790-19937791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192554106	chr4:19937804-19937805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184636534	chr4:19937821-19937822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562881918	chr4:19937822-19937823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4524379	chr4:19937882-19937883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs16868937	chr4:19937885-19937886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559068821	chr4:19937932-19937933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189058589	chr4:19937968-19937969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs60621850	chr4:19938005-19938006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563912979	chr4:19938019-19938020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531083364	chr4:19938052-19938053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs67798548	chr4:19938055-19938056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs57482882	chr4:19938063-19938064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560746311	chr4:19938066-19938067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532904303	chr4:19938071-19938072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141056004	chr4:19938171-19938172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16868942	chr4:19938195-19938196	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544588513	chr4:19938257-19938258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528932883	chr4:19938347-19938348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527780077	chr4:19938381-19938382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143758467	chr4:19938382-19938383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181553351	chr4:19938392-19938393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571548496	chr4:19938398-19938399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532510199	chr4:19938399-19938400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563052202	chr4:19938402-19938403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550620357	chr4:19938404-19938405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184944298	chr4:19938416-19938417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143905592	chr4:19938446-19938447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538097677	chr4:19938460-19938461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533614470	chr4:19938468-19938469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555392477	chr4:19938470-19938471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551888571	chr4:19938523-19938524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113620603	chr4:19938603-19938604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368166172	chr4:19938604-19938605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567587091	chr4:19938637-19938638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138482500	chr4:19938665-19938666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534590253	chr4:19938682-19938683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552977550	chr4:19938707-19938708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533724802	chr4:19938778-19938779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189888994	chr4:19938808-19938809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545130871	chr4:19938812-19938813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79357032	chr4:19938833-19938834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73801302	chr4:19938891-19938892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs112598860	chr4:19943054-19943055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112140388	chr4:19943073-19943074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567779153	chr4:19943079-19943080	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19937600-19939000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:19937600-19939000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:19938000-19938400	Enhancers	Dnd41	blood
4	chr4:19938000-19938600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:19938000-19938600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:19943000-19943400	Enhancers	NHDF-Ad	bronchial
7	chr4:19943400-19946000	Weak transcription	NHDF-Ad	bronchial
8	chr4:19944800-19948800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:19945400-19946200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:19945600-19947200	Enhancers	Osteobl	bone
11	chr4:19945800-19946600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:19945800-19947400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:19945800-19947400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:19945800-19947600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:19946000-19946200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:19946000-19947200	Enhancers	NHDF-Ad	bronchial
17	chr4:19946000-19947400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:19946000-19947800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:19946000-19947800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:19946000-19948400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:19946000-19948800	Enhancers	HMEC	breast
22	chr4:19946200-19946600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:19946200-19947200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:19946200-19947800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:19946400-19946600	Enhancers	Fetal Lung	lung
26	chr4:19946400-19947400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:19946400-19947800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:19946400-19947800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:19946400-19948000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:19946400-19949800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:19946600-19946800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:19946600-19946800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
33	chr4:19946600-19947200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:19946600-19947400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:19946600-19947600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr4:19946600-19947800	Enhancers	Spleen	Spleen
37	chr4:19946600-19949000	Enhancers	HUVEC	blood vessel
38	chr4:19946600-19949800	Enhancers	NHLF	lung
39	chr4:19946800-19947600	Weak transcription	Fetal Lung	lung
40	chr4:19946800-19949600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:19946800-19949600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:19947200-19947400	Enhancers	NH-A	brain
43	chr4:19947200-19947400	Enhancers	NHEK	skin
44	chr4:19947200-19947600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr4:19947200-19947600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:19947200-19947600	Flanking Active TSS	NHDF-Ad	bronchial
47	chr4:19947200-19947800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:19947200-19947800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:19947200-19947800	Flanking Active TSS	Osteobl	bone
50	chr4:19947200-19948200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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