Variant report

Variant	nsv10454
Chromosome Location	chr4:10262858-10267077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:10266760-10266910	GM12867	blood:	n/a	n/a
2	GATA1	chr4:10263970-10264666	PBDE	blood:	n/a	chr4:10264452-10264461
3	MAFF	chr4:10264617-10264631	K562	blood:	n/a	n/a
4	MAFK	chr4:10262922-10262935	K562	blood:	n/a	n/a
5	POLR2A	chr4:10266384-10266483	A549	lung:	n/a	n/a
6	POLR2A	chr4:10266394-10266537	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr4:10263189-10263304	K562	blood:	n/a	n/a
8	TBP	chr4:10263612-10263621	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:10181799..10184639-chr4:10262185..10264664,2	K562	blood:
2	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:
3	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
4	chr4:10255171..10260191-chr4:10262748..10268904,8	K562	blood:
5	chr4:10254361..10256671-chr4:10262474..10264248,2	K562	blood:
6	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
7	chr4:10266886..10269236-chr4:10273082..10275523,2	K562	blood:
8	chr4:10257186..10261463-chr4:10263373..10268480,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250573	TF binding region
ENSG00000250040	TF binding region
ENSG00000250040	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536447155	chr4:10262862-10262863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548035261	chr4:10262883-10262884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375815096	chr4:10262902-10262903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532199292	chr4:10262940-10262941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372390615	chr4:10262987-10262988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567760411	chr4:10263072-10263073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537920433	chr4:10263076-10263077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144716059	chr4:10263109-10263110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74668662	chr4:10263117-10263118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529198999	chr4:10263154-10263155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577591007	chr4:10263196-10263197	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs377089770	chr4:10263206-10263207	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147913977	chr4:10263220-10263221	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1541522	chr4:10263245-10263246	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568498027	chr4:10263249-10263250	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572597864	chr4:10263271-10263272	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559224156	chr4:10263283-10263284	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs543209155	chr4:10263284-10263285	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs17406107	chr4:10263380-10263381	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576102636	chr4:10263393-10263394	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76359787	chr4:10263414-10263415	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564909736	chr4:10263416-10263417	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112582439	chr4:10263423-10263424	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371545048	chr4:10263445-10263446	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78104177	chr4:10263466-10263467	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559692470	chr4:10263475-10263476	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142618537	chr4:10263486-10263487	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548383499	chr4:10263516-10263517	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569725506	chr4:10263524-10263525	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538362556	chr4:10263540-10263541	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549845645	chr4:10263566-10263567	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571345492	chr4:10263569-10263570	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs56292253	chr4:10263571-10263572	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553702398	chr4:10263594-10263595	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572706877	chr4:10263624-10263625	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553311893	chr4:10263650-10263651	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74511315	chr4:10263659-10263660	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555174762	chr4:10263680-10263681	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575003133	chr4:10263683-10263684	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543584638	chr4:10263716-10263717	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564969751	chr4:10263725-10263726	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567543901	chr4:10263757-10263758	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4697990	chr4:10263774-10263775	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140875143	chr4:10263795-10263796	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559359064	chr4:10263806-10263807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs80143923	chr4:10263815-10263816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548164441	chr4:10263819-10263820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143958575	chr4:10263825-10263826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563530706	chr4:10263835-10263836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530607305	chr4:10263838-10263839	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	21293372	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10261200-10263000	Enhancers	K562	blood
2	chr4:10261800-10263000	Enhancers	HMEC	breast
3	chr4:10262000-10263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:10262000-10263400	Weak transcription	Fetal Thymus	thymus
5	chr4:10262000-10273800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:10262800-10263400	Weak transcription	Gastric	stomach
7	chr4:10262800-10264600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:10263000-10263400	Weak transcription	K562	blood
9	chr4:10263200-10263800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:10263400-10263600	Enhancers	Fetal Thymus	thymus
11	chr4:10263400-10263600	Enhancers	Gastric	stomach
12	chr4:10263400-10265600	Enhancers	K562	blood
13	chr4:10263600-10266800	Weak transcription	Fetal Thymus	thymus
14	chr4:10263600-10268200	Weak transcription	Gastric	stomach
15	chr4:10264600-10264800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:10264600-10264800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:10265600-10271000	Weak transcription	K562	blood
18	chr4:10266200-10266600	Enhancers	Thymus	Thymus
19	chr4:10266400-10266800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:10266800-10267000	Enhancers	Fetal Thymus	thymus
21	chr4:10267000-10273600	Weak transcription	Fetal Thymus	thymus

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