Variant report

Variant	esv3437082
Chromosome Location	chr2:78639835-78640414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:78640164-78640401	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:78637554..78639977-chr2:78766787..78768860,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78639673-78640302	NONHSAT071846
2	lnc-LRRTM4-3	chr2:78639919-78640220	NONHSAT071847
3	lnc-LRRTM4-3	chr2:78637204-78640302	NONHSAT071835

No data

Variant related genes	Relation type
CYCSP6	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 54 )

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	rs546051842	chr2:78639835-78639836	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs569471264	chr2:78639839-78639840	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs538461476	chr2:78639872-78639873	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs558597979	chr2:78640000-78640001	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs35046502	chr2:78640046-78640047	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs566067342	chr2:78640050-78640051	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs2018108	chr2:78640076-78640077	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554704166	chr2:78640106-78640107	Bivalent Enhancer Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs575072146	chr2:78640201-78640202	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs576972841	chr2:78640202-78640203	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs183564601	chr2:78640211-78640212	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs557699685	chr2:78640226-78640227	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs577481067	chr2:78640230-78640231	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs6725336	chr2:78640246-78640247	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564952541	chr2:78640250-78640251	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs201153138	chr2:78640284-78640285	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs386647656	chr2:78640293-78640294	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs768071	chr2:78640294-78640295	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532428946	chr2:78640295-78640296	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs560769698	chr2:78640296-78640297	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs114272335	chr2:78640360-78640361	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs188844502	chr2:78640364-78640365	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78634000-78643200	Weak transcription	K562	blood
2	chr2:78634200-78643600	Weak transcription	HepG2	liver
3	chr2:78640000-78640200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:78640000-78640200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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