Variant report

Variant	esv11005
Chromosome Location	chr5:154393341-154398169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:154392931..154393435-chrX:69509885..69510516,2	Hela-S3	cervix:
2	chr5:154388177..154391057-chr5:154394147..154395904,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120509	chromatin interactions
ENSG00000090889	chromatin interactions

Extended variants
information (count: 272 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:272 , 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	rs367750501	chr5:154393356-154393357	Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373569626	chr5:154393369-154393370	Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535388383	chr5:154393388-154393389	Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373876445	chr5:154393412-154393413	Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200942753	chr5:154393463-154393464	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371073527	chr5:154393489-154393490	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs199871103	chr5:154393524-154393525	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572362267	chr5:154393549-154393550	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541398809	chr5:154393573-154393574	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185994098	chr5:154393574-154393575	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs367763438	chr5:154393591-154393592	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370360313	chr5:154393608-154393609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374071565	chr5:154393646-154393647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56366205	chr5:154393660-154393661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577708925	chr5:154393667-154393668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199985535	chr5:154393676-154393677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368291440	chr5:154393692-154393693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372047983	chr5:154393738-154393739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375845717	chr5:154393748-154393749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529464932	chr5:154393752-154393753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137888317	chr5:154393753-154393754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192370456	chr5:154393754-154393755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372324512	chr5:154393768-154393769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375778576	chr5:154393777-154393778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369076676	chr5:154393796-154393797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372617497	chr5:154393804-154393805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527319011	chr5:154393866-154393867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373667918	chr5:154393876-154393877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547414776	chr5:154393881-154393882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570601300	chr5:154393894-154393895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200058266	chr5:154393909-154393910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200470683	chr5:154393936-154393937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184046383	chr5:154393959-154393960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372621246	chr5:154393969-154393970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200402418	chr5:154393971-154393972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565941099	chr5:154394013-154394014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188974157	chr5:154394017-154394018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557741244	chr5:154394033-154394034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369578373	chr5:154394050-154394051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200325069	chr5:154394062-154394063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543535606	chr5:154394070-154394071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373997421	chr5:154394075-154394076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117318692	chr5:154394077-154394078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201483012	chr5:154394135-154394136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574187564	chr5:154394142-154394143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190973449	chr5:154394173-154394174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559843032	chr5:154394182-154394183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375958657	chr5:154394211-154394212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202131557	chr5:154394212-154394213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200464048	chr5:154394235-154394236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154393200-154393600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr5:154393200-154393600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:154393200-154393600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:154393200-154393600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:154393200-154393600	Active TSS	Dnd41	blood
6	chr5:154393200-154393600	Bivalent/Poised TSS	Hela-S3	cervix
7	chr5:154393200-154393600	Active TSS	K562	blood
8	chr5:154393200-154393600	Active TSS	Monocytes-CD14+_RO01746	blood
9	chr5:154393600-154403000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:154394600-154394800	Enhancers	GM12878-XiMat	blood
11	chr5:154394800-154395600	Weak transcription	GM12878-XiMat	blood
12	chr5:154395600-154395800	Enhancers	GM12878-XiMat	blood
13	chr5:154395800-154396800	Weak transcription	GM12878-XiMat	blood
14	chr5:154396800-154397600	Enhancers	GM12878-XiMat	blood

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