Variant report

Variant	esv14313
Chromosome Location	chr4:152603171-152607993
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	chr4:152604003..152606698-chr4:152611125..152613319,2	K562	blood:
2	chr4:152601188..152603111-chr4:152604045..152605768,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000059691	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6833368	chr4:152603177-152603178	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558133839	chr4:152603184-152603185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569617548	chr4:152603185-152603186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557590875	chr4:152603187-152603188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536701570	chr4:152603234-152603235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6834095	chr4:152603278-152603279	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs35606512	chr4:152603326-152603327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191232563	chr4:152603328-152603329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567108135	chr4:152603330-152603331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545667301	chr4:152603339-152603340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6839074	chr4:152603357-152603358	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs560738123	chr4:152603374-152603375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552988611	chr4:152603412-152603413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58443173	chr4:152603415-152603416	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6838966	chr4:152603475-152603476	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs564686593	chr4:152603523-152603524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10007015	chr4:152603528-152603529	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs550372524	chr4:152603538-152603539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536731064	chr4:152603547-152603548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10019048	chr4:152603615-152603616	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs573474753	chr4:152603629-152603630	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543977487	chr4:152603634-152603635	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540932869	chr4:152603652-152603653	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10007167	chr4:152603655-152603656	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs182101963	chr4:152603705-152603706	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186735460	chr4:152603708-152603709	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374253116	chr4:152603717-152603718	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563272971	chr4:152603732-152603733	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530553654	chr4:152603734-152603735	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6839738	chr4:152603843-152603844	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6817058	chr4:152603865-152603866	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs528223174	chr4:152603872-152603873	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191397284	chr4:152603903-152603904	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373490675	chr4:152603936-152603937	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547103848	chr4:152603949-152603950	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113787399	chr4:152603957-152603958	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529866434	chr4:152603982-152603983	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28558989	chr4:152603983-152603984	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548819498	chr4:152603996-152603997	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569268733	chr4:152604015-152604016	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6840360	chr4:152604031-152604032	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs183185361	chr4:152604045-152604046	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372311764	chr4:152604058-152604059	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539186952	chr4:152604140-152604141	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573486742	chr4:152604182-152604183	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534100563	chr4:152604205-152604206	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78905851	chr4:152604217-152604218	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577495506	chr4:152604230-152604231	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141018332	chr4:152604240-152604241	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563177917	chr4:152604262-152604263	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	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
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	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
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152563800-152625200	Weak transcription	Hela-S3	cervix
2	chr4:152567400-152608600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:152567800-152609000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:152581200-152608400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:152585600-152628600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:152585800-152640400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:152586400-152609000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:152589200-152608800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:152589200-152619200	Weak transcription	Dnd41	blood
10	chr4:152590600-152609000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr4:152591200-152608600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:152591200-152646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:152592200-152608000	Weak transcription	Thymus	Thymus
14	chr4:152592600-152636400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:152593600-152608000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:152593600-152608800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:152595200-152611600	Weak transcription	K562	blood
18	chr4:152595600-152608600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:152596200-152608600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:152596200-152624000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:152596400-152604400	Weak transcription	Pancreas	Pancrea
22	chr4:152596400-152608000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:152596400-152608000	Weak transcription	Ovary	ovary
24	chr4:152596400-152608600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:152596400-152608600	Weak transcription	Placenta	Placenta
26	chr4:152596400-152609000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:152596400-152627800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:152596400-152628600	Weak transcription	Colonic Mucosa	Colon
29	chr4:152596400-152640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:152596600-152604600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:152596600-152605400	Weak transcription	Stomach Mucosa	stomach
32	chr4:152596600-152608000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:152596600-152608000	Weak transcription	Right Atrium	heart
34	chr4:152596600-152608600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:152596800-152606000	Weak transcription	Right Ventricle	heart
36	chr4:152596800-152606400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:152596800-152606400	Strong transcription	Primary T cells from cord blood	blood
38	chr4:152596800-152606400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:152596800-152607400	Weak transcription	Lung	lung
40	chr4:152596800-152607800	Weak transcription	Psoas Muscle	Psoas
41	chr4:152596800-152608000	Weak transcription	Fetal Lung	lung
42	chr4:152596800-152608800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:152597000-152604400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:152597000-152607200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:152597000-152608000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:152597000-152608200	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:152597000-152608400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:152597000-152612000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:152597200-152604400	Weak transcription	Fetal Intestine Large	intestine
50	chr4:152597200-152608000	Weak transcription	Brain Angular Gyrus	brain

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