Variant report

Variant	nsv1014533
Chromosome Location	chr4:15181175-15222705
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:15190965..15193664-chr4:15196469..15198398,2	MCF-7	breast:
2	chr4:15183350..15186071-chr4:15189040..15191014,2	MCF-7	breast:
3	chr4:15154947..15155946-chr4:15198355..15199170,2	K562	blood:
4	chr4:15190965..15193664-chr4:15196469..15198398,2	MCF-7	breast:
5	chr4:15199477..15201761-chr4:15204386..15206913,2	K562	blood:
6	chr1:107766965..107767626-chr4:15183420..15184002,2	MCF-7	breast:
7	chr4:15183350..15186071-chr4:15189040..15191014,2	MCF-7	breast:
8	chr4:15199477..15201761-chr4:15204386..15206913,2	K562	blood:

No data

Extended variants
information (count: 1625 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1625 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541758580	chr4:15181176-15181177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562019460	chr4:15181186-15181187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531117006	chr4:15181204-15181205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550979710	chr4:15181240-15181241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570476903	chr4:15181285-15181286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13130619	chr4:15181295-15181296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553069363	chr4:15181298-15181299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13148369	chr4:15181327-15181328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13149909	chr4:15181330-15181331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566588954	chr4:15181356-15181357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535515342	chr4:15181369-15181370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555604172	chr4:15181370-15181371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4324539	chr4:15181392-15181393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13125297	chr4:15181407-15181408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13148760	chr4:15181444-15181445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575469923	chr4:15181482-15181483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544563167	chr4:15181484-15181485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13125471	chr4:15181490-15181491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557746147	chr4:15181501-15181502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191897962	chr4:15181550-15181551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370025112	chr4:15181569-15181570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551040048	chr4:15181583-15181584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545892508	chr4:15181635-15181636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201854347	chr4:15181640-15181641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559669534	chr4:15181722-15181723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373517245	chr4:15181731-15181732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183292031	chr4:15181732-15181733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570934638	chr4:15181765-15181766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75828462	chr4:15181775-15181776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189178679	chr4:15181776-15181777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140866276	chr4:15181797-15181798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143291115	chr4:15181838-15181839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571043582	chr4:15181870-15181871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10014445	chr4:15181885-15181886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs546301257	chr4:15181888-15181889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566428325	chr4:15181922-15181923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146702692	chr4:15181924-15181925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555218697	chr4:15181956-15181957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566973951	chr4:15182003-15182004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549090963	chr4:15182013-15182014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536099352	chr4:15182018-15182019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537627922	chr4:15182048-15182049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557899635	chr4:15182060-15182061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577880720	chr4:15182075-15182076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534043545	chr4:15182140-15182141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555796624	chr4:15182164-15182165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553099125	chr4:15182201-15182202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368153101	chr4:15182231-15182232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572889954	chr4:15182235-15182236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1158429	chr4:15182272-15182273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Non-syndromic sensorineural hearing loss	20606397	CNVD
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
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15164000-15187800	Weak transcription	Aorta	Aorta
2	chr4:15183400-15184600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:15184000-15184200	Bivalent Enhancer	HSMM	muscle
4	chr4:15184000-15184400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:15184000-15184600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:15184000-15184600	Enhancers	NHEK	skin
7	chr4:15184000-15185000	Enhancers	NH-A	brain
8	chr4:15184000-15185200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr4:15184000-15185200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:15184000-15185400	Enhancers	HSMMtube	muscle
11	chr4:15184200-15185400	Enhancers	HSMM	muscle
12	chr4:15184200-15185600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:15184400-15184800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:15184400-15187600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:15184600-15188000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:15185000-15187600	Weak transcription	NH-A	brain
17	chr4:15185400-15187000	Weak transcription	HSMMtube	muscle
18	chr4:15185400-15187200	Weak transcription	HSMM	muscle
19	chr4:15187000-15187200	Enhancers	K562	blood
20	chr4:15187000-15187600	Enhancers	HSMMtube	muscle
21	chr4:15187200-15187400	Enhancers	Brain Germinal Matrix	brain
22	chr4:15187200-15187400	Enhancers	Brain Hippocampus Middle	brain
23	chr4:15187200-15189000	Enhancers	Fetal Heart	heart
24	chr4:15187200-15189000	Enhancers	HSMM	muscle
25	chr4:15187600-15187800	Enhancers	Osteobl	bone
26	chr4:15187600-15188000	Flanking Active TSS	HSMMtube	muscle
27	chr4:15187600-15188200	Enhancers	Brain Cingulate Gyrus	brain
28	chr4:15187600-15188400	Enhancers	NH-A	brain
29	chr4:15187600-15188600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr4:15187600-15189000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:15187800-15188000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:15187800-15188000	Enhancers	K562	blood
33	chr4:15187800-15188400	Enhancers	Aorta	Aorta
34	chr4:15187800-15188400	Enhancers	Brain Anterior Caudate	brain
35	chr4:15187800-15188800	Enhancers	Brain Angular Gyrus	brain
36	chr4:15188000-15188200	Enhancers	Brain Hippocampus Middle	brain
37	chr4:15188000-15188200	Enhancers	HSMMtube	muscle
38	chr4:15188000-15188800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:15188200-15188400	Flanking Active TSS	HSMMtube	muscle
40	chr4:15188400-15189000	Enhancers	HSMMtube	muscle
41	chr4:15188400-15199600	Weak transcription	Aorta	Aorta
42	chr4:15189400-15191000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr4:15189400-15191000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr4:15189600-15189800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:15190000-15191000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr4:15190400-15191000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr4:15190600-15191000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:15191000-15191400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:15191400-15198000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:15195600-15195800	Enhancers	Right Atrium	heart

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