Variant report

Variant	esv2506558
Chromosome Location	chr8:91233905-91235242
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:5)
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	chr8:91012457..91015215-chr8:91233847..91236431,2	K562	blood:
2	chr8:91234288..91238197-chr8:91246865..91250561,3	K562	blood:
3	chr8:91012457..91016466-chr8:91233540..91237741,4	K562	blood:
4	chr8:91176914..91178549-chr8:91234676..91237074,2	K562	blood:
5	chr8:91210166..91212699-chr8:91233871..91237591,3	K562	blood:
6	chr8:91121306..91123004-chr8:91234013..91235686,2	K562	blood:
7	chr8:91077672..91080611-chr8:91234474..91236679,2	K562	blood:
8	chr8:91012660..91015157-chr8:91235154..91237814,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DECR1-1	chr8:91233716-91233974	ENSG00000253394
2	lnc-DECR1-1	chr8:91233766-91233974	ENSG00000253394
3	lnc-DECR1-1	chr8:91233745-91233974	ENSG00000253394
4	lnc-DECR1-1	chr8:91233716-91233974	NONHSAT127644
5	lnc-DECR1-1	chr8:91233875-91233974	ENSG00000253394

No data

Variant related genes	Relation type
ENSG00000104320	chromatin interactions
ENSG00000104325	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575468221	chr8:91233905-91233906	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs181156926	chr8:91233911-91233912	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs542926142	chr8:91233922-91233923	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs537182911	chr8:91233938-91233939	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs370314397	chr8:91233987-91233988	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573167811	chr8:91234013-91234014	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs12544757	chr8:91234038-91234039	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561481231	chr8:91234127-91234128	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs528881738	chr8:91234154-91234155	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558107292	chr8:91234197-91234198	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562552642	chr8:91234218-91234219	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs533188179	chr8:91234263-91234264	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs73297267	chr8:91234298-91234299	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571404768	chr8:91234346-91234347	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs144476466	chr8:91234380-91234381	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs2285725	chr8:91234381-91234382	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189827124	chr8:91234420-91234421	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535826734	chr8:91234558-91234559	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs181790943	chr8:91234579-91234580	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187407192	chr8:91234580-91234581	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs539662758	chr8:91234595-91234596	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs146636854	chr8:91234613-91234614	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573206497	chr8:91234619-91234620	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190801232	chr8:91234688-91234689	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562399427	chr8:91234689-91234690	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573587556	chr8:91234702-91234703	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560373660	chr8:91234733-91234734	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572408432	chr8:91234813-91234814	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs544171000	chr8:91234860-91234861	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs542843132	chr8:91234871-91234872	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs562591882	chr8:91234898-91234899	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs367552513	chr8:91234908-91234909	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545568288	chr8:91234989-91234990	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs533023450	chr8:91234990-91234991	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs182305966	chr8:91235008-91235009	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200456974	chr8:91235028-91235029	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560341677	chr8:91235033-91235034	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs527478496	chr8:91235054-91235055	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs2056839	chr8:91235078-91235079	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs148392044	chr8:91235097-91235098	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs2056840	chr8:91235112-91235113	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550528301	chr8:91235152-91235153	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91228400-91236800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:91229600-91238600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:91232400-91236400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:91233400-91234000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:91233600-91235600	Active TSS	K562	blood

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