Variant report

Variant	nsv878734
Chromosome Location	chr4:19474680-19598710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:19559004..19561112-chr4:19562245..19563790,2	MCF-7	breast:
2	chr4:19559004..19561112-chr4:19562245..19563790,2	MCF-7	breast:
3	chr4:19583145..19583681-chr4:62195548..62196296,2	MCF-7	breast:

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

Extended variants
information (count: 1272 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1272 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4610333	chr4:19474680-19474681	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11935975	chr4:19474721-19474722	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375311926	chr4:19474804-19474805	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527237510	chr4:19474805-19474806	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376134485	chr4:19474830-19474831	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201252823	chr4:19474838-19474839	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184693837	chr4:19474863-19474864	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs36012850	chr4:19474872-19474873	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549929136	chr4:19474914-19474915	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568532507	chr4:19474916-19474917	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369112061	chr4:19474930-19474931	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559552864	chr4:19474955-19474956	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536060470	chr4:19475041-19475042	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554128435	chr4:19475062-19475063	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566367242	chr4:19475073-19475074	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539791298	chr4:19475105-19475106	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189097411	chr4:19475113-19475114	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113052510	chr4:19475121-19475122	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543491505	chr4:19475158-19475159	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532776968	chr4:19475179-19475180	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574514628	chr4:19475247-19475248	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542019193	chr4:19475275-19475276	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560133285	chr4:19475319-19475320	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371403392	chr4:19475328-19475329	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527573137	chr4:19475350-19475351	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78521833	chr4:19475375-19475376	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564046051	chr4:19475455-19475456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548240289	chr4:19475482-19475483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531354221	chr4:19475483-19475484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375505053	chr4:19475484-19475485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181486270	chr4:19475489-19475490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568155517	chr4:19475584-19475585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529419458	chr4:19475591-19475592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186482177	chr4:19475612-19475613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13143908	chr4:19475675-19475676	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539728585	chr4:19475684-19475685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191512820	chr4:19475715-19475716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143063604	chr4:19475752-19475753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75393934	chr4:19475754-19475755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201542830	chr4:19475755-19475756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10031579	chr4:19475756-19475757	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10031580	chr4:19475758-19475759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199835089	chr4:19475762-19475763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200551519	chr4:19475764-19475765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201732716	chr4:19475766-19475767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555539882	chr4:19475786-19475787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71179229	chr4:19475792-19475793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9998589	chr4:19475794-19475795	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571080950	chr4:19475814-19475815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181159892	chr4:19475824-19475825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19473800-19475200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:19474000-19475200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:19474000-19475600	Enhancers	Adipose Nuclei	Adipose
4	chr4:19474400-19475000	Enhancers	Osteobl	bone
5	chr4:19474600-19475400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:19474800-19475800	Enhancers	Hela-S3	cervix
7	chr4:19475200-19480600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:19475400-19475800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:19480600-19481200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:19480800-19481200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:19480800-19482000	Enhancers	Osteobl	bone
12	chr4:19487200-19487600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:19487200-19487600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:19487200-19487600	Enhancers	Fetal Kidney	kidney
15	chr4:19494200-19494400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:19494200-19494800	Enhancers	Osteobl	bone
17	chr4:19496000-19497000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:19496800-19497400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:19509600-19511800	Enhancers	HUVEC	blood vessel
20	chr4:19510400-19510800	Enhancers	Hela-S3	cervix
21	chr4:19511800-19512000	Enhancers	Pancreas	Pancrea
22	chr4:19515800-19516400	Enhancers	Dnd41	blood
23	chr4:19516000-19516600	Enhancers	Colon Smooth Muscle	Colon
24	chr4:19522200-19523000	Enhancers	Brain Hippocampus Middle	brain
25	chr4:19522200-19523000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr4:19522200-19523000	Enhancers	Fetal Brain Female	brain
27	chr4:19522400-19522800	Enhancers	Brain Angular Gyrus	brain
28	chr4:19522400-19523000	Enhancers	Brain Cingulate Gyrus	brain
29	chr4:19522600-19523000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:19522600-19523000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:19522600-19523200	Enhancers	Brain Substantia Nigra	brain
32	chr4:19522600-19523800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:19522800-19523000	Enhancers	Right Atrium	heart
34	chr4:19533000-19536600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:19533200-19536400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:19533400-19534400	Enhancers	Fetal Muscle Leg	muscle
37	chr4:19533600-19534000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:19533600-19534000	Enhancers	Brain Substantia Nigra	brain
39	chr4:19533600-19535200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:19533800-19534200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:19533800-19534200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr4:19534400-19535800	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:19535200-19535600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:19535600-19536400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:19535800-19536000	Enhancers	Fetal Muscle Leg	muscle
46	chr4:19535800-19536200	Enhancers	NHEK	skin
47	chr4:19535800-19536400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:19543200-19543600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:19543400-19543600	Enhancers	Fetal Lung	lung
50	chr4:19543400-19544000	Active TSS	Osteobl	bone

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