Variant report

Variant	nsv964094
Chromosome Location	chr4:124666829-124667416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr4:124666932-124666980	K562	blood:	n/a	n/a

Variant related genes	Relation type
RPL21P50	TF binding region
ENSG00000226655	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59010501	chr4:124666880-124666881	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113788681	chr4:124666929-124666930	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184813188	chr4:124666954-124666955	Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561805999	chr4:124666956-124666957	Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530438903	chr4:124666984-124666985	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550131337	chr4:124667021-124667022	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17007263	chr4:124667071-124667072	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549556183	chr4:124667114-124667115	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114352116	chr4:124667123-124667124	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552441486	chr4:124667137-124667138	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72670548	chr4:124667139-124667140	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535201004	chr4:124667141-124667142	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548431075	chr4:124667242-124667243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10706766	chr4:124667264-124667265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569818214	chr4:124667265-124667266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75864840	chr4:124667276-124667277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397995270	chr4:124667278-124667279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374218939	chr4:124667300-124667301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568509062	chr4:124667359-124667360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537074687	chr4:124667414-124667415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124663600-124676600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:124664400-124667200	Enhancers	Fetal Brain Male	brain
3	chr4:124664600-124667800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:124664800-124667200	Enhancers	Colon Smooth Muscle	Colon
5	chr4:124664800-124667200	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr4:124665000-124667200	Enhancers	Fetal Intestine Small	intestine
7	chr4:124665200-124670600	Weak transcription	HSMM	muscle
8	chr4:124665600-124667400	Enhancers	Fetal Lung	lung
9	chr4:124666000-124667000	Enhancers	Left Ventricle	heart
10	chr4:124666000-124667000	Enhancers	Lung	lung
11	chr4:124666000-124667200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:124666000-124667200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:124666200-124670600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:124666400-124667000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:124666400-124667800	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:124666400-124670600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:124666400-124670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:124666400-124670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:124666400-124671000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:124666400-124671200	Weak transcription	Fetal Kidney	kidney
21	chr4:124666400-124671200	Weak transcription	Right Atrium	heart
22	chr4:124666600-124667000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:124666600-124667000	Weak transcription	Psoas Muscle	Psoas
24	chr4:124666600-124668000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:124666600-124668000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:124666600-124668200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:124666600-124669800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:124666600-124670000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:124666600-124670000	Weak transcription	Fetal Intestine Large	intestine
30	chr4:124666600-124670000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:124666600-124670400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:124666600-124671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:124666600-124671200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:124667000-124667200	Enhancers	Aorta	Aorta
35	chr4:124667000-124667200	Enhancers	Brain Anterior Caudate	brain
36	chr4:124667000-124667200	Enhancers	Fetal Muscle Trunk	muscle
37	chr4:124667000-124667200	Enhancers	Psoas Muscle	Psoas
38	chr4:124667000-124670000	Weak transcription	Left Ventricle	heart
39	chr4:124667000-124670600	Weak transcription	Lung	lung
40	chr4:124667200-124669400	Weak transcription	Psoas Muscle	Psoas
41	chr4:124667200-124670000	Weak transcription	Fetal Intestine Small	intestine
42	chr4:124667200-124670000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:124667200-124670600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:124667200-124676200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:124667400-124670000	Weak transcription	Fetal Lung	lung
46	chr4:124667400-124673200	Weak transcription	Aorta	Aorta

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