Variant report

Variant	esv2421669
Chromosome Location	chr4:75081112-75082206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75081253..75083346-chr4:75120623..75122127,2	K562	blood:
2	chr4:75071138..75073600-chr4:75079457..75081137,2	MCF-7	breast:
3	chr4:75072066..75073934-chr4:75080235..75082986,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533770	chr4:75081116-75081117	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377627201	chr4:75081119-75081120	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565086994	chr4:75081120-75081121	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs111514580	chr4:75081121-75081122	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs369514820	chr4:75081126-75081127	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140331424	chr4:75081135-75081136	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs563553679	chr4:75081158-75081159	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs530766482	chr4:75081184-75081185	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs181096600	chr4:75081209-75081210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563967219	chr4:75081263-75081264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184102562	chr4:75081270-75081271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534980248	chr4:75081288-75081289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546904320	chr4:75081294-75081295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571795046	chr4:75081351-75081352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538372256	chr4:75081393-75081394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556992131	chr4:75081412-75081413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575317458	chr4:75081463-75081464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs508150	chr4:75081507-75081508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562462716	chr4:75081603-75081604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112330842	chr4:75081617-75081618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149925972	chr4:75081644-75081645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529468467	chr4:75081666-75081667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201924757	chr4:75081686-75081687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554595985	chr4:75081689-75081690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573222427	chr4:75081693-75081694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565917765	chr4:75081783-75081784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116171555	chr4:75081784-75081785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564947579	chr4:75081811-75081812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372973110	chr4:75081841-75081842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576939527	chr4:75081848-75081849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13125990	chr4:75081934-75081935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563401734	chr4:75081956-75081957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146532579	chr4:75081960-75081961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542656059	chr4:75081979-75081980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560923014	chr4:75082023-75082024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571086664	chr4:75082060-75082061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372884582	chr4:75082095-75082096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs579866	chr4:75082112-75082113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs370259078	chr4:75082120-75082121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181008341	chr4:75082140-75082141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7681137	chr4:75082205-75082206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Non-small cell lung cancer	21829676	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	20952505	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75056800-75096600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:75064200-75096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:75065000-75086200	Weak transcription	Psoas Muscle	Psoas
4	chr4:75067800-75097000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:75068400-75082400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:75068400-75093000	Weak transcription	Thymus	Thymus
7	chr4:75068400-75096600	Weak transcription	Adipose Nuclei	Adipose
8	chr4:75069600-75091000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:75071800-75096400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:75072200-75099200	Weak transcription	Ovary	ovary
11	chr4:75073000-75092400	Weak transcription	Primary B cells from cord blood	blood
12	chr4:75073800-75089400	Weak transcription	A549	lung
13	chr4:75073800-75089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:75073800-75094400	Weak transcription	Brain Angular Gyrus	brain
15	chr4:75074000-75082800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:75074200-75082800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:75074200-75084000	Weak transcription	HMEC	breast
18	chr4:75074400-75083200	Weak transcription	HSMMtube	muscle
19	chr4:75074600-75091200	Weak transcription	Liver	Liver
20	chr4:75075000-75095800	Weak transcription	Primary T cells from cord blood	blood
21	chr4:75075200-75083400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:75078000-75084800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:75078400-75083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:75080000-75081200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:75080000-75081200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:75080000-75081400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:75080200-75081200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:75080200-75081400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:75080200-75081400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:75080200-75081400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:75080200-75081400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:75080400-75081200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:75080400-75081200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:75080400-75081400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:75080600-75081200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:75080600-75081600	Enhancers	Fetal Heart	heart
37	chr4:75080600-75109600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:75080800-75081200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:75080800-75081200	Weak transcription	Left Ventricle	heart
40	chr4:75080800-75083800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:75080800-75095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:75080800-75095400	Weak transcription	Fetal Thymus	thymus
43	chr4:75081000-75081200	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr4:75081000-75082600	Weak transcription	K562	blood
45	chr4:75081000-75082800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:75081000-75085200	Weak transcription	Esophagus	oesophagus
47	chr4:75081000-75091200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:75081200-75081400	Enhancers	Left Ventricle	heart
49	chr4:75081200-75082200	Weak transcription	Fetal Intestine Small	intestine
50	chr4:75081200-75083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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