Variant report

Variant	esv3342813
Chromosome Location	chr4:101960115-101961207
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	chr4:101947401..101949556-chr4:101960965..101963315,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199666969	chr4:101960157-101960158	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146157398	chr4:101960175-101960176	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550019975	chr4:101960188-101960189	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556686860	chr4:101960220-101960221	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187413878	chr4:101960329-101960330	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536086454	chr4:101960345-101960346	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374995864	chr4:101960360-101960361	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75051409	chr4:101960401-101960402	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56218352	chr4:101960422-101960423	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191863915	chr4:101960458-101960459	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180922647	chr4:101960527-101960528	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113428341	chr4:101960530-101960531	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539547979	chr4:101960558-101960559	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529788118	chr4:101960593-101960594	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555882330	chr4:101960594-101960595	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75991178	chr4:101960625-101960626	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529055274	chr4:101960631-101960632	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146813268	chr4:101960677-101960678	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148523680	chr4:101960681-101960682	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527783386	chr4:101960703-101960704	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552114593	chr4:101960707-101960708	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570776057	chr4:101960725-101960726	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538504523	chr4:101960765-101960766	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550187878	chr4:101960776-101960777	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185241955	chr4:101960800-101960801	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536045338	chr4:101960830-101960831	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2851061	chr4:101960840-101960841	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190344671	chr4:101960851-101960852	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142874132	chr4:101960853-101960854	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557701333	chr4:101960855-101960856	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575968603	chr4:101960902-101960903	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182668452	chr4:101960906-101960907	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10034707	chr4:101960925-101960926	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs151029837	chr4:101960937-101960938	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573646942	chr4:101960938-101960939	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34895987	chr4:101960942-101960943	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150753333	chr4:101960945-101960946	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540780880	chr4:101961066-101961067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3804353	chr4:101961077-101961078	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186250087	chr4:101961079-101961080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573656781	chr4:101961117-101961118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545918101	chr4:101961187-101961188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101936200-101967800	Weak transcription	Fetal Kidney	kidney
2	chr4:101941000-101960200	Weak transcription	Colonic Mucosa	Colon
3	chr4:101941200-101971000	Weak transcription	Psoas Muscle	Psoas
4	chr4:101941200-102000200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:101942000-101970200	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:101942400-101960200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:101942400-101971400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:101942600-101966800	Weak transcription	Gastric	stomach
10	chr4:101942600-102003200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:101942600-102024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:101943000-101961800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:101943200-101967400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:101943200-101967400	Weak transcription	Spleen	Spleen
15	chr4:101943400-101964200	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:101943400-101967200	Weak transcription	Fetal Brain Male	brain
17	chr4:101943800-101960800	Weak transcription	Esophagus	oesophagus
18	chr4:101943800-102023400	Weak transcription	Fetal Lung	lung
19	chr4:101944000-101962000	Weak transcription	A549	lung
20	chr4:101944000-101964600	Weak transcription	NHLF	lung
21	chr4:101944400-101968400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:101944400-101981200	Weak transcription	Pancreas	Pancrea
23	chr4:101944400-102000200	Weak transcription	Fetal Stomach	stomach
24	chr4:101945400-101961000	Weak transcription	Fetal Brain Female	brain
25	chr4:101945400-101961600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:101945600-101970800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:101945800-101960400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:101945800-101970800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:101947800-102012600	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:101950200-101967000	Weak transcription	Stomach Mucosa	stomach
31	chr4:101950200-101971400	Weak transcription	Brain Angular Gyrus	brain
32	chr4:101950400-101964000	Weak transcription	HSMMtube	muscle
33	chr4:101950400-101965800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:101950400-101971400	Weak transcription	Brain Anterior Caudate	brain
35	chr4:101951800-101967200	Weak transcription	Right Ventricle	heart
36	chr4:101953600-101960200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr4:101953600-101960200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:101953600-101960200	Weak transcription	NH-A	brain
39	chr4:101953600-101966000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:101953600-101970200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:101953600-101972000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:101953600-101983800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:101953600-101992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:101953600-102015200	Weak transcription	Fetal Intestine Large	intestine
45	chr4:101954000-101965800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:101954200-101972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:101955400-101966000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr4:101955400-101966000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:101955600-101961800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:101955800-101961800	Weak transcription	H9 Cell Line	embryonic stem cell

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