Variant report

Variant	esv2763412
Chromosome Location	chr4:175482525-175503770
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	chr4:175478843..175480644-chr4:175480681..175483174,2	MCF-7	breast:
2	chr4:175478907..175480414-chr4:175480826..175482541,2	K562	blood:

Extended variants
information (count: 864 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:864 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17296350	chr4:175482525-175482526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559253539	chr4:175482582-175482583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182710167	chr4:175482605-175482606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576951010	chr4:175482615-175482616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372500096	chr4:175482623-175482624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11432166	chr4:175482624-175482625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72704182	chr4:175482625-175482626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111298969	chr4:175482629-175482630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35894716	chr4:175482639-175482640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539293659	chr4:175482657-175482658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575957302	chr4:175482704-175482705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553228765	chr4:175482708-175482709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573006204	chr4:175482753-175482754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186935099	chr4:175482755-175482756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142011159	chr4:175482786-175482787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191528780	chr4:175482796-175482797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543489511	chr4:175482798-175482799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546566552	chr4:175482857-175482858	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs563476961	chr4:175482879-175482880	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544471846	chr4:175482929-175482930	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557865807	chr4:175482953-175482954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552543676	chr4:175482987-175482988	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs150077536	chr4:175483054-175483055	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs74384588	chr4:175483056-175483057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548918984	chr4:175483069-175483070	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs370131300	chr4:175483116-175483117	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2114502	chr4:175483121-175483122	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs111567019	chr4:175483122-175483123	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs561467052	chr4:175483145-175483146	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550685107	chr4:175483202-175483203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187686086	chr4:175483204-175483205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114990760	chr4:175483205-175483206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530115664	chr4:175483286-175483287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540697093	chr4:175483302-175483303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547877900	chr4:175483314-175483315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566673992	chr4:175483323-175483324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13101572	chr4:175483343-175483344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544727287	chr4:175483354-175483355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76667621	chr4:175483375-175483376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2332893	chr4:175483376-175483377	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574478219	chr4:175483392-175483393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532334193	chr4:175483408-175483409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551266989	chr4:175483418-175483419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543454334	chr4:175483431-175483432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576145359	chr4:175483474-175483475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111530389	chr4:175483481-175483482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577222663	chr4:175483513-175483514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546289830	chr4:175483553-175483554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559659831	chr4:175483593-175483594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528709669	chr4:175483603-175483604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175466600-175484600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:175477400-175482800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:175479800-175482600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:175479800-175484600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:175480800-175482800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:175480800-175483000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:175480800-175483000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:175480800-175483400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:175480800-175483800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:175480800-175485000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:175480800-175485400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:175481000-175485000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:175481000-175485400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:175481600-175482800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:175481600-175482800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:175481600-175484200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:175481600-175484600	Weak transcription	Stomach Mucosa	stomach
18	chr4:175482200-175482600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:175482200-175483000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr4:175482200-175483600	Enhancers	A549	lung
21	chr4:175482400-175483400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:175482600-175483000	Enhancers	Primary T cells from cord blood	blood
23	chr4:175482600-175483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:175482600-175483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:175482600-175483200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:175482800-175483000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:175482800-175483200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr4:175482800-175483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:175482800-175483200	Enhancers	Fetal Kidney	kidney
30	chr4:175482800-175485200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:175483000-175483200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr4:175483000-175484600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:175483200-175485600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:175483200-175485600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:175483400-175484600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:175483800-175484200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:175484200-175484800	Enhancers	Fetal Lung	lung
38	chr4:175484200-175485400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr4:175484200-175485600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:175484400-175485600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:175484600-175484800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr4:175484600-175485000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr4:175484600-175485000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:175484600-175485000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:175484600-175485000	Enhancers	Stomach Mucosa	stomach
46	chr4:175484600-175485600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr4:175485200-175490200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:175485400-175490200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:175485400-175490600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:175485600-175490200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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