Variant report

Variant	esv14891
Chromosome Location	chr4:79256788-79263029
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	chr4:79262786..79264537-chr4:79284546..79286263,2	K562	blood:

Extended variants
information (count: 278 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370086920	chr4:79256855-79256856	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566774486	chr4:79256856-79256857	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367885	chr4:79256870-79256871	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576721336	chr4:79256885-79256886	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552252946	chr4:79256901-79256902	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569218337	chr4:79256908-79256909	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189740091	chr4:79256921-79256922	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs444500	chr4:79256940-79256941	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556919284	chr4:79256945-79256946	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567478373	chr4:79256954-79256955	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181283475	chr4:79256958-79256959	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553326664	chr4:79256974-79256975	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184370582	chr4:79257007-79257008	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545274681	chr4:79257013-79257014	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78487742	chr4:79257056-79257057	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5859615	chr4:79257057-79257058	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76269463	chr4:79257058-79257059	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79720033	chr4:79257059-79257060	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397994133	chr4:79257073-79257074	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558298368	chr4:79257093-79257094	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544680614	chr4:79257123-79257124	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369347514	chr4:79257181-79257182	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189219977	chr4:79257222-79257223	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143808812	chr4:79257233-79257234	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560605826	chr4:79257257-79257258	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572666181	chr4:79257315-79257316	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61401201	chr4:79257332-79257333	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540396950	chr4:79257478-79257479	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560427098	chr4:79257536-79257537	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181915555	chr4:79257585-79257586	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148177058	chr4:79257642-79257643	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543330460	chr4:79257671-79257672	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143371	chr4:79257710-79257711	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141942652	chr4:79257737-79257738	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187587105	chr4:79257743-79257744	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369198092	chr4:79257806-79257807	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536467959	chr4:79257812-79257813	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549454781	chr4:79257821-79257822	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563002979	chr4:79257830-79257831	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529056651	chr4:79257894-79257895	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs370698202	chr4:79257900-79257901	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549133287	chr4:79257933-79257934	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs78967093	chr4:79257992-79257993	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs540774818	chr4:79258000-79258001	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs113053583	chr4:79258062-79258063	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111838279	chr4:79258063-79258064	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs11936582	chr4:79258077-79258078	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs386832	chr4:79258081-79258082	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190716097	chr4:79258107-79258108	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs150235432	chr4:79258122-79258123	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Glioblastoma multiforme	21922591	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:79229800-79257600	Weak transcription	Fetal Stomach	stomach
3	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
4	chr4:79230600-79258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:79231600-79260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:79238000-79263200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:79240400-79263000	Weak transcription	Psoas Muscle	Psoas
8	chr4:79241600-79257600	Weak transcription	Left Ventricle	heart
9	chr4:79247400-79257400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:79247400-79257600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:79250400-79257600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:79253200-79257600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:79253200-79257800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:79253400-79257600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:79253400-79257800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:79253400-79258600	Weak transcription	Placenta	Placenta
17	chr4:79253800-79257600	Weak transcription	Fetal Lung	lung
18	chr4:79253800-79264800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:79254600-79257600	Weak transcription	Right Atrium	heart
20	chr4:79254600-79257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:79254600-79257800	Weak transcription	NHDF-Ad	bronchial
22	chr4:79254600-79258400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:79254600-79261600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:79254800-79257400	Weak transcription	Fetal Intestine Large	intestine
25	chr4:79254800-79257600	Weak transcription	Fetal Kidney	kidney
26	chr4:79255000-79257400	Weak transcription	Fetal Intestine Small	intestine
27	chr4:79255600-79257800	Weak transcription	Right Ventricle	heart
28	chr4:79255800-79259000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:79256200-79257200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:79256400-79256800	Genic enhancers	H1 Cell Line	embryonic stem cell
31	chr4:79256400-79256800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:79256400-79256800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:79256400-79258200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:79256400-79258400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr4:79256400-79258400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:79256400-79259600	Enhancers	Fetal Heart	heart
37	chr4:79256400-79265200	Strong transcription	HepG2	liver
38	chr4:79256600-79256800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:79256600-79256800	Enhancers	Brain Germinal Matrix	brain
40	chr4:79256600-79257000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr4:79256600-79257400	Weak transcription	HSMMtube	muscle
42	chr4:79256600-79258000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:79256600-79258200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:79256600-79258400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:79256600-79261800	Weak transcription	Aorta	Aorta
46	chr4:79256800-79257400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:79256800-79257400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:79256800-79257600	Weak transcription	Brain Germinal Matrix	brain
49	chr4:79256800-79257800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:79256800-79258400	Enhancers	HUES64 Cell Line	embryonic stem cell

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