Variant report

Variant	esv1830015
Chromosome Location	chr4:19523949-19545872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLIT2-1	chr4:19535171-19535241	ENSG00000248515.1

Extended variants
information (count: 194 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572895664	chr4:19533001-19533002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138035667	chr4:19533002-19533003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568921284	chr4:19533009-19533010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182386606	chr4:19533047-19533048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116471471	chr4:19533052-19533053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34932976	chr4:19533058-19533059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375415725	chr4:19533062-19533063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552034238	chr4:19533101-19533102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555722819	chr4:19533188-19533189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575538631	chr4:19533212-19533213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186785138	chr4:19533213-19533214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149522916	chr4:19533227-19533228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528050949	chr4:19533235-19533236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570381453	chr4:19533299-19533300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144134402	chr4:19533305-19533306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115926483	chr4:19533318-19533319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550436674	chr4:19533319-19533320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569083926	chr4:19533362-19533363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372548821	chr4:19533373-19533374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140646187	chr4:19533395-19533396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548435831	chr4:19533405-19533406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566829808	chr4:19533445-19533446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534331682	chr4:19533452-19533453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533914733	chr4:19533495-19533496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76689329	chr4:19533705-19533706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10026163	chr4:19533790-19533791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189695390	chr4:19533811-19533812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183374288	chr4:19533828-19533829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576901271	chr4:19533853-19533854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575500489	chr4:19533872-19533873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189126048	chr4:19533903-19533904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538128021	chr4:19533915-19533916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193049006	chr4:19533933-19533934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10003702	chr4:19533935-19533936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368157592	chr4:19533955-19533956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573195761	chr4:19533987-19533988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372884867	chr4:19533989-19533990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539811537	chr4:19534012-19534013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4536923	chr4:19534052-19534053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144597589	chr4:19534054-19534055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62298766	chr4:19534093-19534094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114417132	chr4:19534107-19534108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550645653	chr4:19534159-19534160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147463724	chr4:19534183-19534184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530188864	chr4:19534228-19534229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374657976	chr4:19534309-19534310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200927425	chr4:19534321-19534322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112734036	chr4:19534324-19534325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34394206	chr4:19534325-19534326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72603193	chr4:19534326-19534327	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19533000-19536600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:19533200-19536400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:19533400-19534400	Enhancers	Fetal Muscle Leg	muscle
4	chr4:19533600-19534000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:19533600-19534000	Enhancers	Brain Substantia Nigra	brain
6	chr4:19533600-19535200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:19533800-19534200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:19533800-19534200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr4:19534400-19535800	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:19535200-19535600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:19535600-19536400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:19535800-19536000	Enhancers	Fetal Muscle Leg	muscle
13	chr4:19535800-19536200	Enhancers	NHEK	skin
14	chr4:19535800-19536400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:19543200-19543600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:19543400-19543600	Enhancers	Fetal Lung	lung
17	chr4:19543400-19544000	Active TSS	Osteobl	bone
18	chr4:19543600-19543800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:19543600-19544200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:19543600-19544200	Enhancers	Dnd41	blood
21	chr4:19545400-19546000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:19545600-19546000	Enhancers	Fetal Brain Male	brain
23	chr4:19545600-19546000	Enhancers	Fetal Stomach	stomach
24	chr4:19545600-19546400	Enhancers	Fetal Lung	lung

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