Variant report

Variant	nsv508341
Chromosome Location	chr4:187849139-187895993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187848247..187850848-chr4:187854272..187856829,2	K562	blood:
2	chr4:187844136..187846877-chr4:187850742..187852747,2	K562	blood:
3	chr4:187645972..187647664-chr4:187867143..187868450,8	MCF-7	breast:
4	chr4:187838828..187841268-chr4:187853169..187855944,2	K562	blood:
5	chr4:187848247..187850848-chr4:187854272..187856829,2	K562	blood:
6	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
7	chr4:187759553..187761639-chr4:187893343..187896166,2	K562	blood:
8	chr4:187644629..187648780-chr4:187865976..187870182,7	MCF-7	breast:
9	chr4:187702948..187705032-chr4:187853740..187855963,2	K562	blood:
10	chr4:187647203..187650083-chr4:187858614..187861044,2	MCF-7	breast:
11	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
12	chr4:187648031..187648672-chr4:187867515..187868384,2	MCF-7	breast:
13	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
14	chr4:187641888..187650885-chr4:187865376..187870322,9	MCF-7	breast:
15	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
16	chr4:187658603..187659281-chr4:187867789..187868472,2	MCF-7	breast:
17	chr4:187648351..187650879-chr4:187855816..187858244,2	MCF-7	breast:
18	chr4:187646857..187647583-chr4:187867241..187868105,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions

Extended variants
information (count: 1470 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1470 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538731402	chr4:187849161-187849162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113653881	chr4:187849165-187849166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558766629	chr4:187849173-187849174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10532855	chr4:187849180-187849181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199735150	chr4:187849181-187849182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397880625	chr4:187849182-187849183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575428984	chr4:187849195-187849196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536218356	chr4:187849196-187849197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547895997	chr4:187849211-187849212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146767393	chr4:187849231-187849232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569374063	chr4:187849261-187849262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553016629	chr4:187849300-187849301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191774454	chr4:187849338-187849339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113297715	chr4:187849364-187849365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142755176	chr4:187849382-187849383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74600775	chr4:187849383-187849384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372449307	chr4:187849389-187849390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143325838	chr4:187849460-187849461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183178452	chr4:187849490-187849491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539817629	chr4:187849521-187849522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73873959	chr4:187849578-187849579	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114567813	chr4:187849595-187849596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116513675	chr4:187849596-187849597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73873960	chr4:187849613-187849614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147367155	chr4:187849671-187849672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73027633	chr4:187849675-187849676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568230557	chr4:187849705-187849706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140934909	chr4:187849706-187849707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73873961	chr4:187849753-187849754	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144793163	chr4:187849754-187849755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538793460	chr4:187849846-187849847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558580507	chr4:187849875-187849876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558801256	chr4:187849881-187849882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201970217	chr4:187849884-187849885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73873962	chr4:187849888-187849889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs33925133	chr4:187849889-187849890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs70964996	chr4:187849891-187849892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375760895	chr4:187849910-187849911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147964001	chr4:187849914-187849915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192584740	chr4:187849924-187849925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575057148	chr4:187849926-187849927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576659038	chr4:187849958-187849959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540902716	chr4:187849968-187849969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534590313	chr4:187849972-187849973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576907567	chr4:187849975-187849976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs33948626	chr4:187849983-187849984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76623481	chr4:187849992-187849993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76936374	chr4:187849993-187849994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185545961	chr4:187850008-187850009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187621830	chr4:187850014-187850015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Oral cancer	17325662	CNVD

Chromatin state (count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187837200-187863800	Weak transcription	Right Atrium	heart
2	chr4:187840000-187853400	Weak transcription	Fetal Kidney	kidney
3	chr4:187842000-187852400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:187842600-187852200	Weak transcription	HMEC	breast
5	chr4:187845800-187851200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:187846000-187850400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:187846200-187851400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:187846200-187851800	Weak transcription	Osteobl	bone
9	chr4:187846400-187849800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:187846400-187851200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:187846400-187851200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:187846400-187853400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:187848600-187850600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:187848800-187849200	Weak transcription	NHDF-Ad	bronchial
15	chr4:187849000-187852000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:187849200-187850600	Enhancers	NHDF-Ad	bronchial
17	chr4:187849800-187850800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:187850200-187850400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:187850400-187850800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:187850400-187852200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:187850600-187851800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:187850600-187852000	Weak transcription	NHDF-Ad	bronchial
23	chr4:187850800-187852200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:187850800-187852200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:187851200-187851400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:187851200-187851800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:187851200-187851800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:187851400-187854000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:187851800-187853000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:187851800-187853400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:187851800-187855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:187851800-187857800	Enhancers	Osteobl	bone
33	chr4:187852000-187853000	Enhancers	NHDF-Ad	bronchial
34	chr4:187852000-187854200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:187852000-187854400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:187852000-187855000	Enhancers	HSMM	muscle
37	chr4:187852200-187853000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr4:187852200-187853800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:187852200-187854400	Enhancers	HMEC	breast
40	chr4:187852200-187854600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:187852400-187853400	Enhancers	NHLF	lung
42	chr4:187852400-187855000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:187852800-187854400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:187853000-187853200	Flanking Active TSS	NHDF-Ad	bronchial
45	chr4:187853000-187853200	Enhancers	NHEK	skin
46	chr4:187853000-187853400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:187853000-187853600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:187853000-187853600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr4:187853000-187854200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:187853000-187854600	Enhancers	HepG2	liver

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