Variant report

Variant	nsv593786
Chromosome Location	chr4:19488871-19709795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:19583145..19583681-chr4:62195548..62196296,2	MCF-7	breast:
2	chr4:19660234..19663712-chr4:19666712..19669075,3	K562	blood:
3	chr4:19660234..19663712-chr4:19666712..19669075,3	K562	blood:
4	chr4:19559004..19561112-chr4:19562245..19563790,2	MCF-7	breast:
5	chr4:19258834..19261386-chr4:19628228..19629933,2	K562	blood:
6	chr4:19559004..19561112-chr4:19562245..19563790,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2491 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2491 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558761719	chr4:19494222-19494223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4533772	chr4:19494281-19494282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150553898	chr4:19494295-19494296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184829045	chr4:19494305-19494306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574503573	chr4:19494323-19494324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541859808	chr4:19494350-19494351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189251118	chr4:19494359-19494360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527420834	chr4:19494361-19494362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4386602	chr4:19494435-19494436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192347771	chr4:19494436-19494437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73097354	chr4:19494522-19494523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369512483	chr4:19494532-19494533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74570935	chr4:19494556-19494557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59034261	chr4:19494565-19494566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35966157	chr4:19494617-19494618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547811548	chr4:19494652-19494653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112826991	chr4:19494660-19494661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566038863	chr4:19494668-19494669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539949933	chr4:19494693-19494694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552070852	chr4:19494710-19494711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374364103	chr4:19494752-19494753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531072970	chr4:19496022-19496023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11945269	chr4:19496048-19496049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551251743	chr4:19496052-19496053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564560891	chr4:19496056-19496057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568278113	chr4:19496082-19496083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11722795	chr4:19496112-19496113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540219104	chr4:19496144-19496145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547673711	chr4:19496157-19496158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11735456	chr4:19496184-19496185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs10017144	chr4:19496230-19496231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs10017064	chr4:19496248-19496249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569392700	chr4:19496250-19496251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75151856	chr4:19496317-19496318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59810064	chr4:19496323-19496324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11945412	chr4:19496396-19496397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536976013	chr4:19496409-19496410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569895664	chr4:19496425-19496426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541313503	chr4:19496433-19496434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553639158	chr4:19496443-19496444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183216467	chr4:19496470-19496471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545416716	chr4:19496497-19496498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563700693	chr4:19496557-19496558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12646839	chr4:19496559-19496560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543165597	chr4:19496579-19496580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368451032	chr4:19496609-19496610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9994751	chr4:19496623-19496624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73097361	chr4:19496657-19496658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs151287571	chr4:19496709-19496710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368532006	chr4:19496711-19496712	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19494200-19494400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:19494200-19494800	Enhancers	Osteobl	bone
3	chr4:19496000-19497000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:19496800-19497400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:19509600-19511800	Enhancers	HUVEC	blood vessel
6	chr4:19510400-19510800	Enhancers	Hela-S3	cervix
7	chr4:19511800-19512000	Enhancers	Pancreas	Pancrea
8	chr4:19515800-19516400	Enhancers	Dnd41	blood
9	chr4:19516000-19516600	Enhancers	Colon Smooth Muscle	Colon
10	chr4:19522200-19523000	Enhancers	Brain Hippocampus Middle	brain
11	chr4:19522200-19523000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr4:19522200-19523000	Enhancers	Fetal Brain Female	brain
13	chr4:19522400-19522800	Enhancers	Brain Angular Gyrus	brain
14	chr4:19522400-19523000	Enhancers	Brain Cingulate Gyrus	brain
15	chr4:19522600-19523000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:19522600-19523000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:19522600-19523200	Enhancers	Brain Substantia Nigra	brain
18	chr4:19522600-19523800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:19522800-19523000	Enhancers	Right Atrium	heart
20	chr4:19533000-19536600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:19533200-19536400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:19533400-19534400	Enhancers	Fetal Muscle Leg	muscle
23	chr4:19533600-19534000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:19533600-19534000	Enhancers	Brain Substantia Nigra	brain
25	chr4:19533600-19535200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:19533800-19534200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:19533800-19534200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr4:19534400-19535800	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:19535200-19535600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:19535600-19536400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:19535800-19536000	Enhancers	Fetal Muscle Leg	muscle
32	chr4:19535800-19536200	Enhancers	NHEK	skin
33	chr4:19535800-19536400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:19543200-19543600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:19543400-19543600	Enhancers	Fetal Lung	lung
36	chr4:19543400-19544000	Active TSS	Osteobl	bone
37	chr4:19543600-19543800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:19543600-19544200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:19543600-19544200	Enhancers	Dnd41	blood
40	chr4:19545400-19546000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:19545600-19546000	Enhancers	Fetal Brain Male	brain
42	chr4:19545600-19546000	Enhancers	Fetal Stomach	stomach
43	chr4:19545600-19546400	Enhancers	Fetal Lung	lung
44	chr4:19557200-19558000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:19557600-19558000	Active TSS	Hela-S3	cervix
46	chr4:19559000-19559800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:19559200-19559600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:19562600-19563200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:19569000-19569400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:19569400-19570200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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