Variant report

Variant	esv2554056
Chromosome Location	chr4:104033238-104035994
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:
2	chr4:104031883..104034408-chr4:104035975..104039985,3	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530304249	chr4:104033266-104033267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115646767	chr4:104033270-104033271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149800508	chr4:104033279-104033280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144483876	chr4:104033317-104033318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532718456	chr4:104033327-104033328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183159007	chr4:104033334-104033335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373954475	chr4:104033400-104033401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570848109	chr4:104033423-104033424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570592375	chr4:104033480-104033481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377633764	chr4:104033481-104033482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186138477	chr4:104033483-104033484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199568528	chr4:104033492-104033493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146802304	chr4:104033524-104033525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569626997	chr4:104033546-104033547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368174597	chr4:104033549-104033550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200494812	chr4:104033573-104033574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200449335	chr4:104033579-104033580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201543541	chr4:104033580-104033581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536604954	chr4:104033597-104033598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200158793	chr4:104033625-104033626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192011166	chr4:104033627-104033628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371761601	chr4:104033635-104033636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183492163	chr4:104033655-104033656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200760559	chr4:104033673-104033674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28622110	chr4:104033675-104033676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572476189	chr4:104033708-104033709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202168557	chr4:104033712-104033713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188388210	chr4:104033744-104033745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375087879	chr4:104033750-104033751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558174550	chr4:104033762-104033763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554572434	chr4:104033763-104033764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140557496	chr4:104033770-104033771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111216386	chr4:104033779-104033780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200266027	chr4:104033797-104033798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543685711	chr4:104033798-104033799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561748455	chr4:104033816-104033817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573749954	chr4:104033828-104033829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192905829	chr4:104033869-104033870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566525433	chr4:104033873-104033874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558981202	chr4:104033884-104033885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9761205	chr4:104033912-104033913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544649146	chr4:104033914-104033915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9761206	chr4:104033940-104033941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9761208	chr4:104033968-104033969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9761219	chr4:104033996-104033997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28402074	chr4:104033998-104033999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9761220	chr4:104034024-104034025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28502124	chr4:104034026-104034027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5018827	chr4:104034054-104034055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534260900	chr4:104034055-104034056	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:92 , 50 per page) page: 1 2

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	chr4:104021200-104045800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:104021200-104076600	Weak transcription	Fetal Intestine Small	intestine
12	chr4:104021200-104100200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:104021400-104074600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:104026200-104033400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:104026800-104046200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:104027200-104033400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:104027200-104033400	Strong transcription	Dnd41	blood
18	chr4:104027200-104033800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:104027600-104038400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:104029000-104056200	Weak transcription	Fetal Lung	lung
21	chr4:104029000-104089000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:104029800-104089000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:104030200-104036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:104030200-104039000	Weak transcription	NHDF-Ad	bronchial
25	chr4:104030200-104042400	Weak transcription	HepG2	liver
26	chr4:104030200-104063600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:104030200-104089600	Weak transcription	Hela-S3	cervix
28	chr4:104030400-104049400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:104030400-104053000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:104030800-104055800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:104031000-104039200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:104031200-104039200	Weak transcription	NHLF	lung
33	chr4:104031200-104047000	Weak transcription	Thymus	Thymus
34	chr4:104031200-104069000	Weak transcription	Primary B cells from cord blood	blood
35	chr4:104031400-104053000	Weak transcription	Fetal Intestine Large	intestine
36	chr4:104031400-104057600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr4:104032000-104039200	Weak transcription	HSMM	muscle
38	chr4:104032000-104039800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:104032000-104049200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:104032200-104053000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:104032200-104053000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:104032400-104035000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:104032400-104049200	Weak transcription	A549	lung
44	chr4:104032400-104049200	Weak transcription	GM12878-XiMat	blood
45	chr4:104032600-104035200	Weak transcription	Osteobl	bone
46	chr4:104032600-104039400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:104032600-104042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:104032600-104049400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:104032600-104050200	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:104032800-104040800	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links