Variant report

Variant	esv3370676
Chromosome Location	chr4:88147378-88148876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88148735..88151393-chr4:88155626..88158606,3	K562	blood:
2	chr4:88141404..88143683-chr4:88145826..88148569,2	MCF-7	breast:
3	chr4:88038128..88040369-chr4:88146803..88148813,2	MCF-7	breast:
4	chr4:88144868..88147552-chr4:88148771..88152275,3	K562	blood:
5	chr4:88144868..88147552-chr4:88148771..88152275,3	K562	blood:
6	chr4:87927312..87929416-chr4:88148783..88151404,2	K562	blood:

Variant related genes	Relation type
ENSG00000172493	chromatin interactions
ENSG00000145332	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553939336	chr4:88147379-88147380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530609399	chr4:88147386-88147387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370959871	chr4:88147428-88147429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552479159	chr4:88147438-88147439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114514818	chr4:88147439-88147440	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528359813	chr4:88147440-88147441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570659922	chr4:88147534-88147535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371233780	chr4:88147546-88147547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566040271	chr4:88147553-88147554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150906345	chr4:88147566-88147567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74530776	chr4:88147571-88147572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372475858	chr4:88147587-88147588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576355069	chr4:88147595-88147596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541758691	chr4:88147631-88147632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555595408	chr4:88147668-88147669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570273060	chr4:88147670-88147671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537235690	chr4:88147671-88147672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150033453	chr4:88147733-88147734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182300974	chr4:88147735-88147736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35593684	chr4:88147737-88147738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564249946	chr4:88147739-88147740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552550524	chr4:88147756-88147757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574090111	chr4:88147758-88147759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541564413	chr4:88147759-88147760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147308448	chr4:88147762-88147763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530760975	chr4:88147771-88147772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545700683	chr4:88147773-88147774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375814374	chr4:88147774-88147775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564273180	chr4:88147777-88147778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543472017	chr4:88147784-88147785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185018215	chr4:88147808-88147809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550817634	chr4:88147817-88147818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370801504	chr4:88147838-88147839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563159678	chr4:88147850-88147851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566563424	chr4:88147856-88147857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372523893	chr4:88147859-88147860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189819337	chr4:88147870-88147871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375107298	chr4:88147871-88147872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181091281	chr4:88147880-88147881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs185540083	chr4:88147890-88147891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368012586	chr4:88147900-88147901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376932635	chr4:88147907-88147908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191421963	chr4:88147920-88147921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183695622	chr4:88147931-88147932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370117716	chr4:88147951-88147952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111512685	chr4:88147964-88147965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188565585	chr4:88147981-88147982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs71840554	chr4:88147990-88147991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs72416819	chr4:88148039-88148040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528385413	chr4:88148040-88148041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

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
lymphocytic leukemia	21291569	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
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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88142400-88149800	Weak transcription	K562	blood
2	chr4:88142400-88155200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:88142400-88156400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:88142600-88148200	Weak transcription	Fetal Intestine Large	intestine
5	chr4:88142600-88149400	Weak transcription	HepG2	liver
6	chr4:88145800-88156800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:88146000-88147600	Enhancers	Fetal Brain Male	brain
8	chr4:88148200-88149000	Enhancers	Colonic Mucosa	Colon
9	chr4:88148200-88152000	Enhancers	Fetal Intestine Large	intestine
10	chr4:88148200-88152400	Enhancers	Fetal Intestine Small	intestine
11	chr4:88148400-88149000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr4:88148400-88149400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:88148400-88149800	Enhancers	Hela-S3	cervix
14	chr4:88148400-88150800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:88148600-88149400	Enhancers	Psoas Muscle	Psoas
16	chr4:88148600-88150000	Enhancers	Stomach Mucosa	stomach
17	chr4:88148600-88150400	Enhancers	Liver	Liver
18	chr4:88148600-88150800	Enhancers	Duodenum Mucosa	Duodenum
19	chr4:88148800-88149400	Enhancers	Skeletal Muscle Female	skeletal muscle

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