Variant report

Variant	nsv527739
Chromosome Location	chr4:172772005-172816200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:172790840..172792742-chr4:172835981..172838118,2	K562	blood:
2	chr4:172808859..172811254-chr4:172813204..172815254,2	K562	blood:
3	chr4:172785828..172788443-chr4:172789951..172792245,2	MCF-7	breast:
4	chr4:172808859..172811254-chr4:172813204..172815254,2	K562	blood:
5	chr4:172785828..172788443-chr4:172789951..172792245,2	MCF-7	breast:

Extended variants
information (count: 751 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7691431	chr4:172772005-172772006	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149883005	chr4:172772024-172772025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185218393	chr4:172772055-172772056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535921371	chr4:172772137-172772138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189977949	chr4:172772198-172772199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143859031	chr4:172772208-172772209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148805468	chr4:172772213-172772214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143888149	chr4:172772217-172772218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543325634	chr4:172772254-172772255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529211672	chr4:172772291-172772292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556694415	chr4:172772305-172772306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549474787	chr4:172772309-172772310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540180638	chr4:172772346-172772347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576671198	chr4:172772360-172772361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4692904	chr4:172772449-172772450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559623294	chr4:172772453-172772454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142002961	chr4:172772455-172772456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201914028	chr4:172772461-172772462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201134028	chr4:172772508-172772509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182622591	chr4:172772510-172772511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538006687	chr4:172772533-172772534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188933187	chr4:172772547-172772548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193110793	chr4:172772572-172772573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77578621	chr4:172772609-172772610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146860680	chr4:172772626-172772627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183640406	chr4:172772683-172772684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533601874	chr4:172772691-172772692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547252334	chr4:172772696-172772697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552229458	chr4:172772697-172772698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565611725	chr4:172772703-172772704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550561171	chr4:172772766-172772767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558372139	chr4:172772806-172772807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576741501	chr4:172772832-172772833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375837066	chr4:172772889-172772890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567723682	chr4:172772911-172772912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373925902	chr4:172772932-172772933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536947064	chr4:172772949-172772950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556874558	chr4:172772977-172772978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144355678	chr4:172772979-172772980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76168827	chr4:172772996-172772997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4621395	chr4:172773000-172773001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs151067037	chr4:172773010-172773011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79209439	chr4:172773025-172773026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562015230	chr4:172773031-172773032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76415986	chr4:172773064-172773065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555456358	chr4:172773174-172773175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531437402	chr4:172773215-172773216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35753858	chr4:172773240-172773241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187535018	chr4:172773264-172773265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572032296	chr4:172773273-172773274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172755800-172786000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:172770200-172773400	Enhancers	Brain Germinal Matrix	brain
3	chr4:172770400-172772200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:172770400-172773400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:172771400-172773400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:172771600-172772200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:172772200-172773000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:172772200-172773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:172773000-172773200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:172773000-172773400	Enhancers	Fetal Heart	heart
11	chr4:172773000-172773600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:172773200-172773400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:172773400-172778400	Weak transcription	Fetal Heart	heart
14	chr4:172778400-172779000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:172778400-172779200	Enhancers	Fetal Heart	heart
16	chr4:172778600-172778800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:172778600-172779000	Enhancers	Fetal Kidney	kidney
18	chr4:172796200-172796800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:172796200-172797000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:172796400-172797000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:172796600-172797000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:172797000-172803600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:172797600-172798000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:172798000-172798400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:172798200-172798400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:172798400-172798600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:172798400-172800000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:172798400-172802200	Enhancers	HUVEC	blood vessel
29	chr4:172798600-172801600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:172800000-172801000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:172800000-172802800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:172800800-172802200	Enhancers	NH-A	brain
33	chr4:172801000-172801800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:172801200-172801800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:172801200-172801800	Enhancers	HMEC	breast
36	chr4:172801400-172801600	Enhancers	Hela-S3	cervix
37	chr4:172801400-172802000	Enhancers	A549	lung
38	chr4:172801600-172802800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:172801800-172802000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:172803600-172803800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:172803800-172804000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:172804000-172804200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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