Variant report

Variant	esv3433210
Chromosome Location	chr4:56772961-56773560
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	chr4:56767756..56770065-chr4:56770884..56773389,3	K562	blood:

Variant related genes	Relation type
ENSG00000090989	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35651568	chr4:56772981-56772982	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184121088	chr4:56772988-56772989	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527396752	chr4:56773071-56773072	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73238400	chr4:56773081-56773082	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570464792	chr4:56773096-56773097	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372119142	chr4:56773162-56773163	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189542908	chr4:56773185-56773186	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569735781	chr4:56773205-56773206	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577533755	chr4:56773358-56773359	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535610389	chr4:56773368-56773369	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200668424	chr4:56773449-56773450	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7687618	chr4:56773456-56773457	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574553828	chr4:56773502-56773503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549608966	chr4:56773560-56773561	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
2	chr4:56734400-56773000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr4:56734600-56773400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:56737000-56774800	Weak transcription	Psoas Muscle	Psoas
5	chr4:56748000-56773200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:56748200-56773400	Weak transcription	Gastric	stomach
7	chr4:56748600-56773000	Weak transcription	Right Ventricle	heart
8	chr4:56748600-56773200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:56748600-56773400	Weak transcription	Colonic Mucosa	Colon
10	chr4:56748600-56776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:56751400-56776200	Weak transcription	A549	lung
12	chr4:56756000-56773200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr4:56756600-56773200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:56758600-56773200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:56759800-56774200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:56760200-56773600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:56760400-56773600	Weak transcription	Pancreas	Pancrea
18	chr4:56760400-56774400	Weak transcription	Fetal Brain Male	brain
19	chr4:56760400-56775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:56761800-56773400	Weak transcription	Thymus	Thymus
21	chr4:56762200-56773200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:56762200-56776600	Weak transcription	Osteobl	bone
23	chr4:56762400-56773600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:56764400-56773200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:56764400-56773200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:56764400-56773200	Weak transcription	Brain Anterior Caudate	brain
27	chr4:56764400-56773200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:56764400-56773400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:56764400-56773600	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:56766400-56773000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:56766800-56773200	Weak transcription	NH-A	brain
32	chr4:56766800-56786800	Weak transcription	Ovary	ovary
33	chr4:56767000-56773000	Strong transcription	Primary B cells from cord blood	blood
34	chr4:56767400-56773000	Weak transcription	HUVEC	blood vessel
35	chr4:56767400-56773400	Weak transcription	Brain Angular Gyrus	brain
36	chr4:56767400-56776200	Weak transcription	NHDF-Ad	bronchial
37	chr4:56769000-56774800	Weak transcription	Fetal Lung	lung
38	chr4:56769200-56773000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:56769200-56773600	Weak transcription	HSMMtube	muscle
40	chr4:56769600-56773000	Weak transcription	Fetal Kidney	kidney
41	chr4:56769600-56773200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:56770200-56774800	Weak transcription	GM12878-XiMat	blood
43	chr4:56770600-56773000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:56770600-56773200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:56770800-56773600	Weak transcription	Brain Substantia Nigra	brain
46	chr4:56770800-56777800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:56771000-56773000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:56771000-56773000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr4:56771000-56773000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:56771000-56773800	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links