Variant report

Variant	nsv967793
Chromosome Location	chr4:120386467-120392750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120388467..120390905-chr4:120393709..120395328,2	K562	blood:

Extended variants
information (count: 230 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143108229	chr4:120386507-120386508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146146417	chr4:120386532-120386533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113380886	chr4:120386537-120386538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186134329	chr4:120386549-120386550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80029731	chr4:120386563-120386564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28374462	chr4:120386597-120386598	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs28559989	chr4:120386627-120386628	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs192236243	chr4:120386635-120386636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116135124	chr4:120386636-120386637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576004231	chr4:120386668-120386669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112258044	chr4:120386676-120386677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28499576	chr4:120386677-120386678	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs28632018	chr4:120386730-120386731	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs28587142	chr4:120386753-120386754	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs202149139	chr4:120386814-120386815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560208644	chr4:120386872-120386873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573913962	chr4:120386873-120386874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28479042	chr4:120386876-120386877	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs149721973	chr4:120386905-120386906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147415918	chr4:120386908-120386909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139663388	chr4:120386909-120386910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564949416	chr4:120386939-120386940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145313045	chr4:120386940-120386941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182692805	chr4:120386941-120386942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147638034	chr4:120386947-120386948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536574793	chr4:120387000-120387001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557893836	chr4:120387003-120387004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550055752	chr4:120387004-120387005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556066122	chr4:120387009-120387010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35232806	chr4:120387011-120387012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397880653	chr4:120387022-120387023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71614448	chr4:120387026-120387027	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs534386269	chr4:120387038-120387039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71614449	chr4:120387055-120387056	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs566135846	chr4:120387072-120387073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35063680	chr4:120387102-120387103	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs34858317	chr4:120387110-120387111	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs556251910	chr4:120387113-120387114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542984496	chr4:120387134-120387135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556459199	chr4:120387155-120387156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576113449	chr4:120387179-120387180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369008260	chr4:120387195-120387196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72918597	chr4:120387237-120387238	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs372771558	chr4:120387258-120387259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17046116	chr4:120387259-120387260	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs73842640	chr4:120387266-120387267	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34017792	chr4:120387282-120387283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397880193	chr4:120387286-120387287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561573533	chr4:120387445-120387446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17046118	chr4:120387496-120387497	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120392400	Weak transcription	Fetal Lung	lung
2	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:120376600-120397200	Weak transcription	Aorta	Aorta
4	chr4:120376600-120399000	Weak transcription	Stomach Mucosa	stomach
5	chr4:120376600-120401200	Weak transcription	Psoas Muscle	Psoas
6	chr4:120376600-120419200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:120377000-120388600	Weak transcription	Primary T cells from cord blood	blood
8	chr4:120377000-120416000	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:120377200-120388800	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:120377200-120392400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:120377200-120393200	Weak transcription	Primary B cells from cord blood	blood
12	chr4:120377200-120397400	Weak transcription	Lung	lung
13	chr4:120377200-120400000	Weak transcription	Esophagus	oesophagus
14	chr4:120377200-120400600	Weak transcription	A549	lung
15	chr4:120377200-120401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:120377200-120403400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:120377200-120415600	Weak transcription	Brain Substantia Nigra	brain
18	chr4:120377200-120416200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:120377200-120419600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:120377200-120433800	Weak transcription	Gastric	stomach
21	chr4:120377400-120386600	Weak transcription	Fetal Stomach	stomach
22	chr4:120377400-120386800	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:120377400-120389400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:120377400-120390200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:120377400-120391400	Weak transcription	NH-A	brain
26	chr4:120377400-120391800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:120377400-120392200	Weak transcription	Fetal Intestine Large	intestine
28	chr4:120377400-120392400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:120377400-120393200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:120377400-120393400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:120377400-120395000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:120377400-120396400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:120377400-120397400	Weak transcription	Thymus	Thymus
34	chr4:120377400-120397400	Weak transcription	Hela-S3	cervix
35	chr4:120377400-120397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:120377400-120398400	Weak transcription	Fetal Intestine Small	intestine
37	chr4:120377400-120399800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:120377400-120400200	Weak transcription	Ovary	ovary
39	chr4:120377400-120400400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:120377400-120400600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:120377400-120400600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:120377400-120401000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:120377400-120403000	Weak transcription	Fetal Brain Female	brain
44	chr4:120377400-120415200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:120377400-120416200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:120377400-120439000	Weak transcription	Small Intestine	intestine
47	chr4:120377400-120439000	Weak transcription	Spleen	Spleen
48	chr4:120377600-120387200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:120377600-120388600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:120377600-120389400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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