Variant report

Variant	esv3332419
Chromosome Location	chr4:111042479-111044903
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	chr4:111044319..111045911-chr4:111115055..111116601,2	K562	blood:
2	chr4:111024626..111026930-chr4:111043422..111044957,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187904482	chr4:111042509-111042510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138147117	chr4:111042593-111042594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192378869	chr4:111042613-111042614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115489187	chr4:111042642-111042643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183858234	chr4:111042652-111042653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562190798	chr4:111042670-111042671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28606655	chr4:111042673-111042674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544225208	chr4:111042714-111042715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551266085	chr4:111042723-111042724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192648084	chr4:111042724-111042725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530340052	chr4:111042727-111042728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142373406	chr4:111042748-111042749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567056485	chr4:111042753-111042754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111227024	chr4:111042761-111042762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377110426	chr4:111042787-111042788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569317343	chr4:111042832-111042833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62326562	chr4:111042840-111042841	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554867467	chr4:111042841-111042842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143183674	chr4:111042849-111042850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544845197	chr4:111042854-111042855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376342067	chr4:111042855-111042856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534077111	chr4:111042926-111042927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370665013	chr4:111042939-111042940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72900512	chr4:111042941-111042942	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs77875158	chr4:111042942-111042943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563849039	chr4:111043016-111043017	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75064389	chr4:111043090-111043091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10001299	chr4:111043121-111043122	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575635849	chr4:111043146-111043147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541434079	chr4:111043152-111043153	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572858966	chr4:111043208-111043209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2170553	chr4:111043210-111043211	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184915479	chr4:111043211-111043212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189819903	chr4:111043251-111043252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560717032	chr4:111043267-111043268	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372612725	chr4:111043425-111043426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377244135	chr4:111043449-111043450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552717371	chr4:111043489-111043490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76778750	chr4:111043517-111043518	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567398083	chr4:111043803-111043804	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111878713	chr4:111043830-111043831	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181914757	chr4:111043841-111043842	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184186095	chr4:111043851-111043852	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543486782	chr4:111043894-111043895	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533887332	chr4:111043899-111043900	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148209271	chr4:111043954-111043955	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376024968	chr4:111043956-111043957	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570321940	chr4:111043971-111043972	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539200046	chr4:111043977-111043978	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531094765	chr4:111043995-111043996	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111024200-111049800	Weak transcription	Fetal Stomach	stomach
2	chr4:111026000-111061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:111026400-111046000	Weak transcription	Left Ventricle	heart
4	chr4:111026400-111049200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:111028000-111047600	Weak transcription	Gastric	stomach
6	chr4:111028600-111054000	Weak transcription	HepG2	liver
7	chr4:111029600-111054200	Weak transcription	Liver	Liver
8	chr4:111030000-111060800	Weak transcription	A549	lung
9	chr4:111030000-111093800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:111030000-111098800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:111031200-111043800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:111031800-111066200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:111037600-111051400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:111038000-111051600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:111038200-111051600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:111038200-111056400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:111038600-111053000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:111038800-111043000	Weak transcription	K562	blood
19	chr4:111040400-111043800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:111040400-111066800	Weak transcription	Esophagus	oesophagus
21	chr4:111040800-111043000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:111041200-111049600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:111041200-111056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:111041400-111042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:111041400-111043000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:111041400-111043200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:111041400-111045800	Weak transcription	GM12878-XiMat	blood
28	chr4:111041400-111049200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:111041400-111049200	Weak transcription	Stomach Mucosa	stomach
30	chr4:111041400-111053600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:111041400-111059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:111041600-111043000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:111041800-111042800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:111041800-111043000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:111041800-111043000	Weak transcription	NHDF-Ad	bronchial
36	chr4:111041800-111046000	Weak transcription	HUVEC	blood vessel
37	chr4:111041800-111049200	Weak transcription	Fetal Intestine Small	intestine
38	chr4:111041800-111049600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:111041800-111051800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:111041800-111054200	Weak transcription	Dnd41	blood
41	chr4:111041800-111070600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:111042000-111042800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:111042000-111043000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:111042000-111043000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:111042000-111043000	Weak transcription	Osteobl	bone
46	chr4:111042000-111043400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:111042000-111080200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:111042000-111084200	Weak transcription	NHLF	lung
49	chr4:111042400-111043800	Weak transcription	NHEK	skin
50	chr4:111042800-111044600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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