Variant report

Variant	nsv1002606
Chromosome Location	chr4:121145456-121194713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:121185242..121187871-chr4:121188856..121190633,2	K562	blood:
2	chr4:121167566..121169623-chr4:121176920..121179543,2	MCF-7	breast:
3	chr4:121189633..121192348-chr4:121208319..121209845,2	K562	blood:
4	chr4:121185242..121187871-chr4:121188856..121190633,2	K562	blood:
5	chr4:121167566..121169623-chr4:121176920..121179543,2	MCF-7	breast:

Extended variants
information (count: 1173 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1173 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372671930	chr4:121146604-121146605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551045965	chr4:121146621-121146622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148302135	chr4:121146634-121146635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76482315	chr4:121146636-121146637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79997032	chr4:121146639-121146640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181063076	chr4:121146651-121146652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562555888	chr4:121146703-121146704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114925528	chr4:121146704-121146705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550926807	chr4:121146784-121146785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546957044	chr4:121146789-121146790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77017207	chr4:121146835-121146836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116067010	chr4:121146864-121146865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544241859	chr4:121146871-121146872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560360756	chr4:121146872-121146873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547719655	chr4:121146897-121146898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141924742	chr4:121146981-121146982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536900963	chr4:121146998-121146999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530113650	chr4:121147057-121147058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79499292	chr4:121147121-121147122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558510260	chr4:121147226-121147227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369294373	chr4:121147245-121147246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371593901	chr4:121147254-121147255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72920007	chr4:121147308-121147309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558201155	chr4:121147321-121147322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74416351	chr4:121147327-121147328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554080261	chr4:121147350-121147351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185898711	chr4:121147398-121147399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376918121	chr4:121147474-121147475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578126085	chr4:121147534-121147535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542766744	chr4:121147600-121147601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562555486	chr4:121147669-121147670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190223147	chr4:121147678-121147679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554210604	chr4:121147771-121147772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544733102	chr4:121147784-121147785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574180780	chr4:121147797-121147798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145625495	chr4:121147856-121147857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527328282	chr4:121147871-121147872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138351999	chr4:121147874-121147875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370564599	chr4:121147954-121147955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112561260	chr4:121147976-121147977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72920008	chr4:121148032-121148033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181260170	chr4:121148037-121148038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369112995	chr4:121148069-121148070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75299325	chr4:121148111-121148112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550316735	chr4:121148150-121148151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116304733	chr4:121148197-121148198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185324831	chr4:121148209-121148210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560602864	chr4:121148254-121148255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528286645	chr4:121148302-121148303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542055961	chr4:121148439-121148440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Myelodysplastic syndrome	18508791	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121146600-121147400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:121146800-121147200	Enhancers	HepG2	liver
3	chr4:121147400-121148800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:121148800-121150000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:121148800-121151400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:121149200-121149600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:121149200-121151600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:121149400-121150000	Enhancers	Adipose Nuclei	Adipose
9	chr4:121149600-121150000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:121149600-121150000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:121150000-121151000	Weak transcription	Adipose Nuclei	Adipose
12	chr4:121150200-121151200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:121151200-121151400	Enhancers	Adipose Nuclei	Adipose
14	chr4:121151200-121152200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:121153000-121153600	Enhancers	Osteobl	bone
16	chr4:121153400-121153600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:121154400-121154800	Enhancers	Pancreas	Pancrea
18	chr4:121154800-121159600	Weak transcription	Pancreas	Pancrea
19	chr4:121159600-121160000	Enhancers	Pancreas	Pancrea
20	chr4:121163000-121165200	Enhancers	Fetal Lung	lung
21	chr4:121163200-121163800	Enhancers	Fetal Kidney	kidney
22	chr4:121163200-121165200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:121163200-121165400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:121163200-121166400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:121163400-121165200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:121163400-121165200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:121163600-121164000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:121163800-121165400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:121164000-121165000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:121165200-121167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:121165200-121167800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:121165400-121167800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:121166400-121167600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:121167600-121168000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:121167600-121169000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:121167800-121168600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:121167800-121169000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:121177200-121178000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr4:121177200-121178000	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr4:121177200-121178000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:121177200-121178200	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr4:121177200-121178800	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr4:121177400-121177800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:121177400-121178000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:121177400-121178000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr4:121177400-121178000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:121177400-121178200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr4:121177400-121178200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr4:121177400-121178200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:121177400-121178200	Active TSS	HUES48 Cell Line	embryonic stem cell

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