Variant report

Variant	nsv963587
Chromosome Location	chr4:10242780-10248029
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:9)
LncRNA
region (count:0)
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	EP300	chr4:10244403-10244685	K562	blood:	n/a	n/a
2	JUND	chr4:10242710-10242853	K562	blood:	n/a	n/a
3	POLR2A	chr4:10242720-10242792	K562	blood:	n/a	n/a
4	RCOR1	chr4:10244380-10244576	K562	blood:	n/a	n/a
5	SPI1	chr4:10247333-10247618	HL-60	blood:	n/a	n/a
6	TEAD4	chr4:10244293-10244721	K562	blood:	n/a	n/a
7	UBTF	chr4:10247274-10247362	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
2	chr4:10204306..10206166-chr4:10241229..10242983,2	K562	blood:
3	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
4	chr4:10119817..10122040-chr4:10243013..10245878,2	K562	blood:
5	chr4:10239005..10240530-chr4:10240711..10243694,2	K562	blood:
6	chr4:10242448..10244811-chr4:10340269..10342798,2	K562	blood:
7	chr4:10244335..10247662-chr4:10255817..10258798,3	K562	blood:
8	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
9	chr4:10119817..10121406-chr4:10243789..10245878,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271544	TF binding region
ENSG00000271544	chromatin interactions
ENSG00000250040	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75747574	chr4:10242807-10242808	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544929342	chr4:10242824-10242825	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192072860	chr4:10242869-10242870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs578230202	chr4:10242873-10242874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77403949	chr4:10242897-10242898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2098230	chr4:10242924-10242925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527391962	chr4:10242926-10242927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549004208	chr4:10242940-10242941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560561848	chr4:10242941-10242942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2098229	chr4:10242948-10242949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369083616	chr4:10242980-10242981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549687887	chr4:10243020-10243021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369472655	chr4:10243027-10243028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113131081	chr4:10243037-10243038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201519137	chr4:10243038-10243039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs386671624	chr4:10243039-10243040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4993730	chr4:10243040-10243041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs55661740	chr4:10243041-10243042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534024439	chr4:10243093-10243094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560800573	chr4:10243098-10243099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556133345	chr4:10243105-10243106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2080071	chr4:10243110-10243111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183380988	chr4:10243130-10243131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78648429	chr4:10243153-10243154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111421219	chr4:10243167-10243168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141668743	chr4:10243191-10243192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532160944	chr4:10243208-10243209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545630487	chr4:10243222-10243223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369876456	chr4:10243225-10243226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547499980	chr4:10243237-10243238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371064118	chr4:10243267-10243268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565828003	chr4:10243274-10243275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145198389	chr4:10243284-10243285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4235359	chr4:10243314-10243315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560624077	chr4:10243347-10243348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188388712	chr4:10243350-10243351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549353105	chr4:10243377-10243378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4697982	chr4:10243378-10243379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532305113	chr4:10243387-10243388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567916108	chr4:10243394-10243395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547613453	chr4:10243436-10243437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538179257	chr4:10243450-10243451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113954400	chr4:10243508-10243509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369558655	chr4:10243515-10243516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs28428984	chr4:10243520-10243521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536400904	chr4:10243524-10243525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192629951	chr4:10243532-10243533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147609483	chr4:10243549-10243550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184044873	chr4:10243562-10243563	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140855791	chr4:10243627-10243628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10238000-10257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:10239800-10244200	Enhancers	HSMMtube	muscle
3	chr4:10240600-10243600	Enhancers	Fetal Heart	heart
4	chr4:10241200-10243000	Enhancers	Fetal Stomach	stomach
5	chr4:10241800-10242800	Enhancers	Fetal Muscle Leg	muscle
6	chr4:10242200-10246200	Enhancers	K562	blood
7	chr4:10242400-10242800	Enhancers	Fetal Lung	lung
8	chr4:10243600-10246200	Weak transcription	Fetal Heart	heart
9	chr4:10244000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:10246200-10246600	Weak transcription	K562	blood
11	chr4:10246400-10246600	Enhancers	Fetal Heart	heart
12	chr4:10246600-10248200	Enhancers	K562	blood
13	chr4:10246800-10248200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:10247000-10247200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr4:10247200-10247400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr4:10247400-10247800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr4:10247800-10248000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links