Variant report

Variant	nsv963588
Chromosome Location	chr4:10249806-10256772
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10249783..10252189-chr4:10254326..10257178,3	K562	blood:
2	chr4:10254361..10256671-chr4:10262474..10264248,2	K562	blood:
3	chr4:10182716..10185413-chr4:10249318..10252021,2	K562	blood:
4	chr4:10254662..10256804-chr4:10260995..10262728,2	K562	blood:
5	chr4:10249783..10252189-chr4:10254326..10257178,3	K562	blood:
6	chr4:10171115..10173658-chr4:10254307..10257090,2	K562	blood:
7	chr4:10250648..10253943-chr4:10254760..10258340,4	K562	blood:
8	chr4:10251447..10253119-chr4:10260352..10263035,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR1-9	chr4:10256550-10258245	NONHSAT095490

No data

Variant related genes	Relation type
ENSG00000250040	chromatin interactions
ENSG00000250573	chromatin interactions

Extended variants
information (count: 542 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143128544	chr4:10249842-10249843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28566778	chr4:10249870-10249871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6449395	chr4:10249877-10249878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377067872	chr4:10249879-10249880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561074935	chr4:10249884-10249885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140842725	chr4:10249893-10249894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76572782	chr4:10249894-10249895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543310938	chr4:10249895-10249896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145452493	chr4:10249915-10249916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528474664	chr4:10249947-10249948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532319386	chr4:10249955-10249956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551921404	chr4:10249961-10249962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535326185	chr4:10249962-10249963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560553274	chr4:10249969-10249970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527715188	chr4:10249974-10249975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78250033	chr4:10249980-10249981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6832049	chr4:10250012-10250013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7661555	chr4:10250026-10250027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs7661562	chr4:10250041-10250042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376246321	chr4:10250055-10250056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571520401	chr4:10250066-10250067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546708220	chr4:10250108-10250109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571701700	chr4:10250113-10250114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560230404	chr4:10250122-10250123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148831363	chr4:10250153-10250154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553476703	chr4:10250154-10250155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142558423	chr4:10250158-10250159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569105516	chr4:10250162-10250163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535908302	chr4:10250173-10250174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554558544	chr4:10250179-10250180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150960075	chr4:10250195-10250196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188176581	chr4:10250198-10250199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13145243	chr4:10250224-10250225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs541206520	chr4:10250228-10250229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560618871	chr4:10250258-10250259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7675450	chr4:10250260-10250261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs549171439	chr4:10250262-10250263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561338821	chr4:10250272-10250273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531571264	chr4:10250286-10250287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550482797	chr4:10250288-10250289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10023266	chr4:10250303-10250304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs141704339	chr4:10250308-10250309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547575729	chr4:10250312-10250313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565892845	chr4:10250313-10250314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs16895211	chr4:10250320-10250321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147094196	chr4:10250338-10250339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569649699	chr4:10250339-10250340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17392044	chr4:10250340-10250341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558920377	chr4:10250347-10250348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181969516	chr4:10250354-10250355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:15 , 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	chr4:10244000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:10248200-10256800	Weak transcription	K562	blood
4	chr4:10254800-10257200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:10255000-10255200	Enhancers	Fetal Thymus	thymus
6	chr4:10255000-10256400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:10255000-10256600	Enhancers	NHEK	skin
8	chr4:10255200-10256400	Enhancers	HMEC	breast
9	chr4:10255400-10256000	Weak transcription	Fetal Thymus	thymus
10	chr4:10255400-10256400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:10256000-10256200	Enhancers	Fetal Thymus	thymus
12	chr4:10256200-10261800	Weak transcription	Fetal Thymus	thymus
13	chr4:10256400-10261600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:10256400-10261800	Weak transcription	HMEC	breast
15	chr4:10256600-10261200	Weak transcription	NHEK	skin

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