Variant report

Variant	esv3460785
Chromosome Location	chr11:46160626-46162733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:46160651-46160851	SH-SY5Y	brain:	n/a	n/a
2	RFX5	chr11:46161352-46161536	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46156833..46159429-chr11:46159952..46162455,2	K562	blood:
2	chr11:46161878..46163896-chr11:46165531..46168198,2	K562	blood:
3	chr11:46158575..46160881-chr11:46163043..46165851,3	MCF-7	breast:
4	chr11:46143681..46146343-chr11:46159365..46161019,2	K562	blood:
5	chr11:46159444..46162124-chr11:46222416..46223935,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254871	TF binding region
ENSG00000254871	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551564300	chr11:46160645-46160646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573970770	chr11:46160653-46160654	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565184567	chr11:46160658-46160659	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543900748	chr11:46160672-46160673	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570176608	chr11:46160681-46160682	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187824122	chr11:46160712-46160713	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190736012	chr11:46160730-46160731	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182899138	chr11:46160736-46160737	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536525575	chr11:46160752-46160753	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138618064	chr11:46160753-46160754	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537642685	chr11:46160771-46160772	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187363776	chr11:46160842-46160843	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576883304	chr11:46161366-46161367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs192396983	chr11:46161388-46161389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs113717698	chr11:46161390-46161391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561123566	chr11:46161391-46161392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs561068220	chr11:46161394-46161395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs147165468	chr11:46161403-46161404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs546598521	chr11:46161408-46161409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138504164	chr11:46161417-46161418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs532934756	chr11:46161485-46161486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs183658080	chr11:46161511-46161512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links