Variant report

Variant	nsv822816
Chromosome Location	chr4:165868349-165869792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:165869324-165869372	MCF-7	breast:	n/a	n/a
2	MYC	chr4:165869600-165869631	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:165869313-165869341	MCF-7	breast:	n/a	n/a
4	POLR2A	chr4:165869111-165869148	ProgFib	skin:	n/a	n/a
5	POLR2A	chr4:165869143-165869152	MCF-7	breast:	n/a	n/a
6	POLR2A	chr4:165869127-165869138	MCF-7	breast:	n/a	n/a
7	USF2	chr4:165869452-165869484	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:165868972..165872041-chr4:165876298..165879460,3	MCF-7	breast:
2	chr1:11966992..11968590-chr4:165867023..165868624,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf39-3	chr4:165869231-165869699	NONHSAT099093

No data

Variant related genes	Relation type
ENSG00000236941	TF binding region
ENSG00000199347	chromatin interactions
ENSG00000250486	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148796053	chr4:165868356-165868357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs56126121	chr4:165868363-165868364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190217173	chr4:165868371-165868372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544749172	chr4:165868393-165868394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566544956	chr4:165868424-165868425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77113509	chr4:165868437-165868438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397879249	chr4:165868449-165868450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541796911	chr4:165868458-165868459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183112018	chr4:165868460-165868461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143591131	chr4:165868466-165868467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567748162	chr4:165868467-165868468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538098924	chr4:165868501-165868502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112370342	chr4:165868531-165868532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543050465	chr4:165868557-165868558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571700374	chr4:165868573-165868574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377438808	chr4:165868622-165868623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187608551	chr4:165868637-165868638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554469328	chr4:165868638-165868639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572909452	chr4:165868647-165868648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113549251	chr4:165868655-165868656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548026403	chr4:165868721-165868722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563390118	chr4:165868743-165868744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540211557	chr4:165868750-165868751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192618298	chr4:165868788-165868789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185618343	chr4:165868790-165868791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56410348	chr4:165868812-165868813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557510615	chr4:165868825-165868826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577548501	chr4:165868862-165868863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13116412	chr4:165868976-165868977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200781123	chr4:165868984-165868985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374717212	chr4:165868985-165868986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532929404	chr4:165868991-165868992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544937212	chr4:165869025-165869026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs386681635	chr4:165869027-165869028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs79370093	chr4:165869028-165869029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527728592	chr4:165869031-165869032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548958606	chr4:165869042-165869043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567515495	chr4:165869045-165869046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531833389	chr4:165869046-165869047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188965837	chr4:165869047-165869048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13143461	chr4:165869055-165869056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13116089	chr4:165869083-165869084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4417925	chr4:165869110-165869111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571825618	chr4:165869140-165869141	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539217588	chr4:165869156-165869157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112586990	chr4:165869179-165869180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140343523	chr4:165869190-165869191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200334899	chr4:165869284-165869285	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs533811860	chr4:165869300-165869301	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs7440598	chr4:165869332-165869333	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	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
Breast cancer	17393978	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165859200-165869200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:165864600-165869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:165864800-165869000	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:165864800-165869200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:165866600-165868400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:165866800-165869200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:165866800-165870800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:165867000-165870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:165867600-165869400	Enhancers	GM12878-XiMat	blood
10	chr4:165869000-165869600	Enhancers	Fetal Muscle Trunk	muscle
11	chr4:165869000-165871200	Enhancers	Fetal Muscle Leg	muscle
12	chr4:165869200-165869400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:165869200-165869400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:165869200-165869600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:165869200-165869600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:165869200-165869600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:165869400-165870200	Weak transcription	GM12878-XiMat	blood
18	chr4:165869600-165870200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:165869600-165870800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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