Variant report

Variant	esv2762452
Chromosome Location	chr4:99208152-99212711
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	chr4:99181941..99184072-chr4:99210417..99212652,2	MCF-7	breast:
2	chr4:99211258..99213088-chr4:99217332..99219608,2	K562	blood:

Variant related genes	Relation type
ENSG00000214559	chromatin interactions
ENSG00000138698	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs526009	chr4:99208152-99208153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187479677	chr4:99208157-99208158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562494012	chr4:99208159-99208160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138040018	chr4:99208161-99208162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559598758	chr4:99208182-99208183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532586984	chr4:99208184-99208185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572971172	chr4:99208248-99208249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73834404	chr4:99208266-99208267	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs72892368	chr4:99208275-99208276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs919027	chr4:99208289-99208290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530403228	chr4:99208311-99208312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs919028	chr4:99208331-99208332	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192326434	chr4:99208350-99208351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184820488	chr4:99208401-99208402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188020446	chr4:99208450-99208451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530387843	chr4:99208457-99208458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142530306	chr4:99208463-99208464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557356511	chr4:99208467-99208468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374923738	chr4:99208497-99208498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193113483	chr4:99208514-99208515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575924153	chr4:99208532-99208533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10028275	chr4:99208535-99208536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111576708	chr4:99208537-99208538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34790528	chr4:99208546-99208547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144170965	chr4:99208577-99208578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10005811	chr4:99208603-99208604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540734619	chr4:99208618-99208619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10028373	chr4:99208639-99208640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553587291	chr4:99208655-99208656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545251359	chr4:99208672-99208673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148685737	chr4:99208729-99208730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563431685	chr4:99208741-99208742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530872755	chr4:99208810-99208811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78038188	chr4:99208815-99208816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532613252	chr4:99208818-99208819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548913330	chr4:99208842-99208843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115797156	chr4:99208848-99208849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184332345	chr4:99208850-99208851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546306668	chr4:99208874-99208875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571046077	chr4:99208908-99208909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145993072	chr4:99208938-99208939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532549220	chr4:99208967-99208968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368674383	chr4:99209036-99209037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569441958	chr4:99209042-99209043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536962284	chr4:99209120-99209121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189185947	chr4:99209124-99209125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372265170	chr4:99209128-99209129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534218383	chr4:99209208-99209209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192832497	chr4:99209210-99209211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577460689	chr4:99209231-99209232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	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
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99184000-99210400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:99184000-99239600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:99184200-99210000	Weak transcription	HSMMtube	muscle
4	chr4:99184200-99242200	Weak transcription	A549	lung
5	chr4:99184600-99211800	Weak transcription	NHLF	lung
6	chr4:99185400-99239400	Weak transcription	NHEK	skin
7	chr4:99186600-99210000	Weak transcription	K562	blood
8	chr4:99194000-99215400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr4:99194600-99214600	Weak transcription	Liver	Liver
10	chr4:99196600-99214200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:99197000-99214600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:99197400-99210000	Weak transcription	Fetal Thymus	thymus
13	chr4:99197600-99210000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:99197600-99210000	Weak transcription	Primary T cells from cord blood	blood
15	chr4:99198400-99210000	Weak transcription	Primary B cells from cord blood	blood
16	chr4:99204000-99210000	Enhancers	Dnd41	blood
17	chr4:99204800-99210000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:99204800-99210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:99204800-99210200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:99204800-99226600	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:99205000-99211000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:99205000-99215400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:99205200-99210000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:99205200-99210400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:99205200-99210400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:99205400-99210000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:99206000-99210400	Weak transcription	Brain Substantia Nigra	brain
28	chr4:99206000-99210400	Weak transcription	Right Ventricle	heart
29	chr4:99206000-99218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:99206000-99234800	Weak transcription	Pancreas	Pancrea
31	chr4:99206200-99210000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:99206200-99210200	Weak transcription	Brain Anterior Caudate	brain
33	chr4:99206200-99210400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:99206200-99210800	Weak transcription	Osteobl	bone
35	chr4:99206200-99211000	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:99206200-99211200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:99206200-99211200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:99206200-99211400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:99206200-99211800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:99206200-99212800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:99206200-99214800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:99206200-99214800	Weak transcription	Left Ventricle	heart
43	chr4:99206200-99214800	Weak transcription	Spleen	Spleen
44	chr4:99206200-99214800	Weak transcription	HSMM	muscle
45	chr4:99206200-99215800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:99206200-99215800	Weak transcription	HMEC	breast
47	chr4:99206200-99218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:99206200-99218200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:99206200-99229000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:99206200-99232800	Weak transcription	Gastric	stomach

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