Variant report

Variant	esv3340061
Chromosome Location	chr4:103240579-103243002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103239724..103242583-chr4:103255498..103257630,2	K562	blood:
2	chr4:103236050..103237568-chr4:103242025..103244148,2	K562	blood:
3	chr4:103238583..103241171-chr4:103242151..103243878,2	MCF-7	breast:
4	chr4:103239128..103241511-chr4:103244052..103246907,2	MCF-7	breast:
5	chr4:103242499..103244957-chr4:103246433..103250034,3	MCF-7	breast:
6	chr4:103239311..103241337-chr4:103423190..103425139,2	MCF-7	breast:
7	chr4:103238583..103241171-chr4:103242151..103243878,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109320	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575428393	chr4:103240592-103240593	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs57110984	chr4:103240598-103240599	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs397969789	chr4:103240599-103240600	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542446054	chr4:103240723-103240724	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561211992	chr4:103240801-103240802	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369593435	chr4:103240802-103240803	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs80347616	chr4:103240833-103240834	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564840764	chr4:103240854-103240855	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531990425	chr4:103240864-103240865	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550686176	chr4:103240930-103240931	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574643183	chr4:103240963-103240964	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182760786	chr4:103241036-103241037	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549121898	chr4:103241047-103241048	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567631478	chr4:103241085-103241086	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372704552	chr4:103241195-103241196	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534955388	chr4:103241202-103241203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187306767	chr4:103241208-103241209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577640939	chr4:103241228-103241229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs13109163	chr4:103241325-103241326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375822995	chr4:103241326-103241327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs13136667	chr4:103241327-103241328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148820071	chr4:103241344-103241345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373181101	chr4:103241346-103241347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374894914	chr4:103241348-103241349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538638440	chr4:103241358-103241359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190602188	chr4:103241362-103241363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557468515	chr4:103241393-103241394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539018140	chr4:103241432-103241433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182506874	chr4:103241448-103241449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542809650	chr4:103241454-103241455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369251288	chr4:103241457-103241458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370507170	chr4:103241468-103241469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187159422	chr4:103241485-103241486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112849521	chr4:103241496-103241497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111205392	chr4:103241513-103241514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192569459	chr4:103241523-103241524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182597464	chr4:103241538-103241539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188950086	chr4:103241552-103241553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561114741	chr4:103241581-103241582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111216350	chr4:103241586-103241587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540562153	chr4:103241588-103241589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565162067	chr4:103241650-103241651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552634051	chr4:103241658-103241659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185050854	chr4:103241668-103241669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113130196	chr4:103241913-103241914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543861982	chr4:103241922-103241923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562608239	chr4:103241946-103241947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375246957	chr4:103241947-103241948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201923794	chr4:103241948-103241949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549183549	chr4:103241950-103241951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103182000-103255400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr4:103196200-103242400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:103210400-103256800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:103214800-103243200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:103218000-103242800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:103218600-103245800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:103219200-103242600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:103221400-103242600	Weak transcription	K562	blood
9	chr4:103224000-103263600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:103228000-103242400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:103228200-103242800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:103228600-103242600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:103229800-103240600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:103230000-103242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:103230000-103245800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:103231400-103240600	Weak transcription	Pancreas	Pancrea
17	chr4:103232600-103242400	Weak transcription	Dnd41	blood
18	chr4:103232600-103249400	Weak transcription	Hela-S3	cervix
19	chr4:103233800-103241000	Weak transcription	Fetal Stomach	stomach
20	chr4:103234800-103242600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:103235800-103240600	Weak transcription	Lung	lung
22	chr4:103236000-103242800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:103236200-103242600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:103237400-103264000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:103237600-103240800	Weak transcription	Liver	Liver
26	chr4:103238200-103241000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:103238800-103242800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:103239000-103242800	Weak transcription	Primary B cells from cord blood	blood
29	chr4:103239000-103256800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:103239400-103241200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr4:103239600-103240600	Weak transcription	Fetal Kidney	kidney
32	chr4:103239600-103241200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr4:103239800-103240600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:103239800-103240600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:103239800-103240600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:103239800-103240600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:103239800-103240600	Enhancers	Colonic Mucosa	Colon
38	chr4:103239800-103241000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr4:103239800-103241000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:103239800-103241000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:103239800-103241200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:103239800-103241200	Enhancers	Right Atrium	heart
43	chr4:103240000-103240600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:103240000-103241000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:103240000-103241000	Enhancers	Fetal Lung	lung
46	chr4:103240200-103240600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:103240200-103240600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:103240200-103240800	Enhancers	Placenta	Placenta
49	chr4:103240400-103240600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr4:103240400-103240600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links