Variant report

Variant	esv3325628
Chromosome Location	chr4:104032728-104035676
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	chr4:104031883..104034408-chr4:104035975..104039985,3	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543906418	chr4:104032729-104032730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75713983	chr4:104032805-104032806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527609988	chr4:104032880-104032881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538006811	chr4:104032902-104032903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371110091	chr4:104032925-104032926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556705345	chr4:104032956-104032957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574886093	chr4:104032970-104032971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535925346	chr4:104032973-104032974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553915182	chr4:104032974-104032975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565186239	chr4:104032991-104032992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181296489	chr4:104033013-104033014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185032975	chr4:104033056-104033057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139843488	chr4:104033110-104033111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2623076	chr4:104033112-104033113	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11724522	chr4:104033129-104033130	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs11724466	chr4:104033138-104033139	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs189838770	chr4:104033139-104033140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547434605	chr4:104033206-104033207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530304249	chr4:104033266-104033267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115646767	chr4:104033270-104033271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149800508	chr4:104033279-104033280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144483876	chr4:104033317-104033318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532718456	chr4:104033327-104033328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183159007	chr4:104033334-104033335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373954475	chr4:104033400-104033401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570848109	chr4:104033423-104033424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570592375	chr4:104033480-104033481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377633764	chr4:104033481-104033482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186138477	chr4:104033483-104033484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199568528	chr4:104033492-104033493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146802304	chr4:104033524-104033525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569626997	chr4:104033546-104033547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368174597	chr4:104033549-104033550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200494812	chr4:104033573-104033574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200449335	chr4:104033579-104033580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201543541	chr4:104033580-104033581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536604954	chr4:104033597-104033598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200158793	chr4:104033625-104033626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192011166	chr4:104033627-104033628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371761601	chr4:104033635-104033636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183492163	chr4:104033655-104033656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200760559	chr4:104033673-104033674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28622110	chr4:104033675-104033676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572476189	chr4:104033708-104033709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202168557	chr4:104033712-104033713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188388210	chr4:104033744-104033745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375087879	chr4:104033750-104033751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558174550	chr4:104033762-104033763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554572434	chr4:104033763-104033764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140557496	chr4:104033770-104033771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104021000-104033600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:104021000-104049200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:104021000-104049200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:104021000-104056000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:104021000-104058200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:104021000-104063800	Weak transcription	Fetal Stomach	stomach
7	chr4:104021000-104068400	Weak transcription	Fetal Brain Male	brain
8	chr4:104021000-104076400	Weak transcription	Fetal Brain Female	brain
9	chr4:104021000-104089600	Weak transcription	Fetal Heart	heart
10	chr4:104021200-104032800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:104021200-104045800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:104021200-104076600	Weak transcription	Fetal Intestine Small	intestine
13	chr4:104021200-104100200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:104021400-104074600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:104026200-104033200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:104026200-104033400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:104026400-104033000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr4:104026600-104033200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr4:104026800-104046200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:104027000-104033200	Strong transcription	Fetal Thymus	thymus
21	chr4:104027200-104033000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:104027200-104033200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:104027200-104033200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:104027200-104033200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:104027200-104033200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:104027200-104033200	Strong transcription	HMEC	breast
27	chr4:104027200-104033400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:104027200-104033400	Strong transcription	Dnd41	blood
29	chr4:104027200-104033800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:104027600-104033000	Strong transcription	HUVEC	blood vessel
31	chr4:104027600-104038400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:104027800-104033200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:104028000-104033200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:104028200-104033200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr4:104029000-104033200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:104029000-104056200	Weak transcription	Fetal Lung	lung
37	chr4:104029000-104089000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:104029800-104089000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:104030200-104036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:104030200-104039000	Weak transcription	NHDF-Ad	bronchial
41	chr4:104030200-104042400	Weak transcription	HepG2	liver
42	chr4:104030200-104063600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:104030200-104089600	Weak transcription	Hela-S3	cervix
44	chr4:104030400-104049400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:104030400-104053000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:104030800-104055800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:104031000-104033200	Strong transcription	K562	blood
48	chr4:104031000-104039200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:104031200-104039200	Weak transcription	NHLF	lung
50	chr4:104031200-104047000	Weak transcription	Thymus	Thymus

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