Variant report

Variant	nsv593789
Chromosome Location	chr4:19521736-19541708
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: 184 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs187751560	chr4:19522281-19522282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542236862	chr4:19522282-19522283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191969118	chr4:19522337-19522338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148422025	chr4:19522359-19522360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115788659	chr4:19522370-19522371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565078705	chr4:19522378-19522379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79831320	chr4:19522395-19522396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541104136	chr4:19522398-19522399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562977305	chr4:19522459-19522460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530264842	chr4:19522460-19522461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542407506	chr4:19522464-19522465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529640061	chr4:19522556-19522557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73099625	chr4:19522567-19522568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561159222	chr4:19522631-19522632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553833722	chr4:19522651-19522652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80066916	chr4:19522656-19522657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566417199	chr4:19522672-19522673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527387073	chr4:19522681-19522682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77603499	chr4:19522686-19522687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183883567	chr4:19522703-19522704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79996738	chr4:19522729-19522730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369152297	chr4:19522766-19522767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79304279	chr4:19522771-19522772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552852629	chr4:19522773-19522774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142473801	chr4:19522840-19522841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535450573	chr4:19522846-19522847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566256628	chr4:19522871-19522872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560786689	chr4:19522874-19522875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73099627	chr4:19522908-19522909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs140995444	chr4:19522945-19522946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187643594	chr4:19522967-19522968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558327976	chr4:19522973-19522974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577089400	chr4:19522982-19522983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544427333	chr4:19522984-19522985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562603936	chr4:19522994-19522995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574698416	chr4:19523002-19523003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192081925	chr4:19523016-19523017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73099628	chr4:19523027-19523028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368797014	chr4:19523030-19523031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184305799	chr4:19523042-19523043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551853881	chr4:19523056-19523057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187238434	chr4:19523078-19523079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531774030	chr4:19523147-19523148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34749767	chr4:19523174-19523175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145984974	chr4:19523194-19523195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139916439	chr4:19523227-19523228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62298761	chr4:19523267-19523268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547435987	chr4:19523277-19523278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192861886	chr4:19523287-19523288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10024291	chr4:19523329-19523330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	chr4:19522200-19523000	Enhancers	Brain Hippocampus Middle	brain
2	chr4:19522200-19523000	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr4:19522200-19523000	Enhancers	Fetal Brain Female	brain
4	chr4:19522400-19522800	Enhancers	Brain Angular Gyrus	brain
5	chr4:19522400-19523000	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:19522600-19523000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:19522600-19523000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:19522600-19523200	Enhancers	Brain Substantia Nigra	brain
9	chr4:19522600-19523800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:19522800-19523000	Enhancers	Right Atrium	heart
11	chr4:19533000-19536600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:19533200-19536400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:19533400-19534400	Enhancers	Fetal Muscle Leg	muscle
14	chr4:19533600-19534000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:19533600-19534000	Enhancers	Brain Substantia Nigra	brain
16	chr4:19533600-19535200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:19533800-19534200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:19533800-19534200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:19534400-19535800	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:19535200-19535600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:19535600-19536400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:19535800-19536000	Enhancers	Fetal Muscle Leg	muscle
23	chr4:19535800-19536200	Enhancers	NHEK	skin
24	chr4:19535800-19536400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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