Variant report

Variant	nsv10455
Chromosome Location	chr4:10351786-10353672
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10116877..10119746-chr4:10350370..10353025,2	K562	blood:
2	chr4:10168814..10170975-chr4:10349780..10352241,2	K562	blood:
3	chr4:10346990..10348791-chr4:10349503..10352332,2	K562	blood:
4	chr4:10346965..10350105-chr4:10350832..10355022,4	K562	blood:
5	chr4:10351809..10354070-chr4:10359322..10360898,2	K562	blood:
6	chr4:10349621..10351967-chr4:10356635..10358807,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRD5-18	chr4:10352660-10352812	l_2604_chr4:10348296-10419642_testes

No data

Variant related genes	Relation type
ENSG00000223086	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000251296	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552738781	chr4:10351818-10351819	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs571027568	chr4:10351853-10351854	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs535000629	chr4:10351868-10351869	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs149472657	chr4:10351943-10351944	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs143958991	chr4:10351946-10351947	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs148646175	chr4:10351957-10351958	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs6853659	chr4:10351970-10351971	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs142916539	chr4:10351979-10351980	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs545653303	chr4:10351982-10351983	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs112866005	chr4:10351984-10351985	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs572989931	chr4:10352005-10352006	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs186806289	chr4:10352086-10352087	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs562012897	chr4:10352089-10352090	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs529810835	chr4:10352127-10352128	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs75095723	chr4:10352130-10352131	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs544233086	chr4:10352132-10352133	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs561535576	chr4:10352175-10352176	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs192263762	chr4:10352185-10352186	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs533067916	chr4:10352190-10352191	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs185804876	chr4:10352196-10352197	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs77379834	chr4:10352199-10352200	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs17420633	chr4:10352218-10352219	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376477373	chr4:10352219-10352220	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs561674459	chr4:10352232-10352233	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs568454846	chr4:10352238-10352239	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs535412466	chr4:10352239-10352240	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs141020253	chr4:10352252-10352253	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572236061	chr4:10352258-10352259	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs144929150	chr4:10352259-10352260	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs147866160	chr4:10352264-10352265	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs114463935	chr4:10352281-10352282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs140453801	chr4:10352298-10352299	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs188830177	chr4:10352304-10352305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555663206	chr4:10352419-10352420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs193211044	chr4:10352432-10352433	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs184535912	chr4:10352445-10352446	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373876980	chr4:10352469-10352470	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs189059492	chr4:10352470-10352471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs4698038	chr4:10352494-10352495	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562517134	chr4:10352505-10352506	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs4697751	chr4:10352506-10352507	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs529279488	chr4:10352508-10352509	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs4698039	chr4:10352528-10352529	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs4698040	chr4:10352550-10352551	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536756041	chr4:10352589-10352590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs150421711	chr4:10352656-10352657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs201359904	chr4:10352690-10352691	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs562016680	chr4:10352700-10352701	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs116689189	chr4:10352709-10352710	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs551026431	chr4:10352711-10352712	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10348600-10354400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:10348600-10355000	Weak transcription	NHEK	skin
3	chr4:10348600-10355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:10349400-10355600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:10349600-10353400	Weak transcription	K562	blood
6	chr4:10353400-10353800	Enhancers	K562	blood

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