Variant report

Variant	nsv879854
Chromosome Location	chr4:121457685-121489983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 907 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:907 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370038432	chr4:121459800-121459801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs70948341	chr4:121459821-121459822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377629527	chr4:121459840-121459841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35094416	chr4:121459854-121459855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112963146	chr4:121459877-121459878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549062071	chr4:121459892-121459893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146175865	chr4:121459937-121459938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139064487	chr4:121459991-121459992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558458430	chr4:121459992-121459993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527426440	chr4:121460024-121460025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578176016	chr4:121460049-121460050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568094354	chr4:121460060-121460061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186754634	chr4:121460067-121460068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114405605	chr4:121460075-121460076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554073376	chr4:121460086-121460087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191937107	chr4:121460098-121460099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184800481	chr4:121460116-121460117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562639479	chr4:121460162-121460163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144049878	chr4:121460191-121460192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72672591	chr4:121460241-121460242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565246861	chr4:121460264-121460265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533099395	chr4:121460284-121460285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143919821	chr4:121460325-121460326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560102251	chr4:121460364-121460365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12503624	chr4:121460369-121460370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs367934417	chr4:121460373-121460374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148771130	chr4:121460384-121460385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374376249	chr4:121460434-121460435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142402617	chr4:121460448-121460449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113656077	chr4:121460509-121460510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs36054077	chr4:121460515-121460516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111352429	chr4:121460525-121460526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551106555	chr4:121460541-121460542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546745736	chr4:121465817-121465818	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566558795	chr4:121465847-121465848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs528964200	chr4:121465896-121465897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2390023	chr4:121465929-121465930	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115508067	chr4:121465933-121465934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs538168590	chr4:121465945-121465946	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs558421657	chr4:121465947-121465948	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs145679776	chr4:121465985-121465986	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs534107363	chr4:121466126-121466127	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs193007216	chr4:121466129-121466130	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs113923241	chr4:121466136-121466137	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374892523	chr4:121466192-121466193	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs72907421	chr4:121469409-121469410	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182103235	chr4:121469449-121469450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554241522	chr4:121469450-121469451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574403268	chr4:121469480-121469481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562700541	chr4:121469518-121469519	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121459800-121460600	Enhancers	Gastric	stomach
2	chr4:121465800-121466200	Active TSS	Osteobl	bone
3	chr4:121469400-121471200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:121469600-121471400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:121470000-121470600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:121470000-121470600	Enhancers	Fetal Lung	lung
7	chr4:121470200-121470600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:121470200-121470600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:121470200-121470600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:121470200-121470600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:121470200-121470600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:121470200-121470800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:121470200-121470800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:121470400-121470800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:121470800-121475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:121475200-121475400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:121475400-121475600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:121475400-121475600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr4:121475400-121475800	Enhancers	Psoas Muscle	Psoas
20	chr4:121475400-121475800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:121475600-121475800	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr4:121475600-121476000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:121475600-121482000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:121475800-121476200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:121475800-121476400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:121475800-121477200	Enhancers	Fetal Heart	heart
27	chr4:121476200-121476600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:121476200-121476800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:121476400-121476800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr4:121476400-121476800	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr4:121478000-121478600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:121478000-121479600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:121478600-121478800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:121482000-121483200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:121483200-121484400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:121483600-121483800	ZNF genes & repeats	Fetal Lung	lung
37	chr4:121483800-121490200	Weak transcription	Fetal Lung	lung
38	chr4:121484600-121484800	Enhancers	H1 Cell Line	embryonic stem cell

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