Variant report

Variant	esv3435704
Chromosome Location	chr4:78023078-78025626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78024081..78027593-chr4:78077545..78080368,3	MCF-7	breast:
2	chr4:78024884..78027833-chr4:78076169..78078737,2	MCF-7	breast:
3	chr4:78024801..78026505-chr4:78078819..78080732,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138764	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550310034	chr4:78023110-78023111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189837993	chr4:78023159-78023160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557980178	chr4:78023211-78023212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113402220	chr4:78023217-78023218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567313934	chr4:78023248-78023249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180987576	chr4:78023282-78023283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186455601	chr4:78023325-78023326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563375030	chr4:78023343-78023344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116653243	chr4:78023383-78023384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373755886	chr4:78023423-78023424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542933905	chr4:78023427-78023428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559849062	chr4:78023483-78023484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528685950	chr4:78023501-78023502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10024538	chr4:78023519-78023520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553108605	chr4:78023521-78023522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564025965	chr4:78023526-78023527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113142248	chr4:78023572-78023573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533090200	chr4:78023579-78023580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116436446	chr4:78023610-78023611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191240895	chr4:78023681-78023682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535720914	chr4:78023761-78023762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549010844	chr4:78023775-78023776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566705775	chr4:78023881-78023882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72860254	chr4:78023905-78023906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143620463	chr4:78023928-78023929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550312688	chr4:78024009-78024010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376203323	chr4:78024041-78024042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57390387	chr4:78024042-78024043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557960623	chr4:78024136-78024137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372093483	chr4:78024137-78024138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113503886	chr4:78024168-78024169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140450806	chr4:78024228-78024229	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187372458	chr4:78024250-78024251	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190734057	chr4:78024278-78024279	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183193107	chr4:78024294-78024295	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368387953	chr4:78024358-78024359	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200367013	chr4:78024412-78024413	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550904047	chr4:78024424-78024425	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568567435	chr4:78024430-78024431	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377213747	chr4:78024437-78024438	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370590266	chr4:78024439-78024440	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs397994090	chr4:78024442-78024443	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368275858	chr4:78024443-78024444	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558939767	chr4:78024614-78024615	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143158356	chr4:78024654-78024655	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559783986	chr4:78024655-78024656	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573524524	chr4:78024660-78024661	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187931246	chr4:78024662-78024663	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372224741	chr4:78024663-78024664	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543225445	chr4:78024686-78024687	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	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
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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78017200-78025800	Weak transcription	HMEC	breast
2	chr4:78017200-78026000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:78019200-78025000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:78021000-78025800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:78021800-78026000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:78021800-78026000	Weak transcription	Pancreas	Pancrea
7	chr4:78021800-78026000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:78022000-78024800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:78022000-78025800	Weak transcription	Fetal Thymus	thymus
10	chr4:78022200-78024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:78022200-78025800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:78022200-78025800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:78022200-78025800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:78022200-78025800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:78022200-78025800	Weak transcription	Left Ventricle	heart
16	chr4:78022200-78025800	Weak transcription	Right Atrium	heart
17	chr4:78022400-78024600	Weak transcription	Primary B cells from cord blood	blood
18	chr4:78022600-78025600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:78022600-78025800	Weak transcription	Small Intestine	intestine
20	chr4:78023000-78023400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:78024200-78024800	Active TSS	Fetal Stomach	stomach
22	chr4:78024200-78025000	Enhancers	Thymus	Thymus
23	chr4:78024600-78025800	Enhancers	Primary B cells from cord blood	blood
24	chr4:78024800-78025000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:78024800-78025200	Enhancers	GM12878-XiMat	blood
26	chr4:78024800-78025400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:78024800-78025600	Weak transcription	Fetal Stomach	stomach
28	chr4:78025000-78025600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:78025200-78025600	Weak transcription	GM12878-XiMat	blood
30	chr4:78025400-78026000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:78025600-78025800	Enhancers	NHEK	skin
32	chr4:78025600-78026000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:78025600-78026000	Enhancers	Stomach Smooth Muscle	stomach
34	chr4:78025600-78026200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr4:78025600-78026400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:78025600-78026600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:78025600-78026600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:78025600-78026600	Enhancers	Fetal Lung	lung
39	chr4:78025600-78026600	Enhancers	GM12878-XiMat	blood
40	chr4:78025600-78026600	Enhancers	HSMM	muscle
41	chr4:78025600-78027000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:78025600-78027000	Enhancers	Fetal Stomach	stomach

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