Variant report

Variant	esv1822140
Chromosome Location	chr10:54012974-54019620
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	chr10:54008362..54009880-chr10:54016820..54018368,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBL2-5	chr10:54013131-54013200	ENSG00000236671
2	lnc-MBL2-5	chr10:54013131-54013200	ENSG00000236671.3

Variant related genes	Relation type
ZNF280B	miRNA target sites

Extended variants
information (count: 201 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1194510	chr10:54012974-54012975	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543777265	chr10:54012991-54012992	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200098107	chr10:54012992-54012993	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557811742	chr10:54013003-54013004	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540591503	chr10:54013129-54013130	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs16928461	chr10:54013275-54013276	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2307619	chr10:54013280-54013281	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs34910415	chr10:54013281-54013282	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs4041249	chr10:54013284-54013285	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs75297421	chr10:54013285-54013286	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577695606	chr10:54013315-54013316	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543491851	chr10:54013316-54013317	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563770002	chr10:54013331-54013332	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2339955	chr10:54013363-54013364	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1194509	chr10:54013402-54013403	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560048754	chr10:54013408-54013409	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528516781	chr10:54013415-54013416	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551826675	chr10:54013434-54013435	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190106916	chr10:54013500-54013501	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530948656	chr10:54013536-54013537	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs372832057	chr10:54013554-54013555	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs143825987	chr10:54013566-54013567	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs146876767	chr10:54013574-54013575	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs545987475	chr10:54013589-54013590	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs535230128	chr10:54013595-54013596	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181353500	chr10:54013614-54013615	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs74135381	chr10:54013615-54013616	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534585677	chr10:54013619-54013620	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186433170	chr10:54013629-54013630	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs577559893	chr10:54013631-54013632	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs114785328	chr10:54013644-54013645	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs556971080	chr10:54013645-54013646	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs371374159	chr10:54013673-54013674	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11446596	chr10:54013689-54013690	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs397831467	chr10:54013690-54013691	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200912108	chr10:54013691-54013692	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs78913223	chr10:54013742-54013743	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547857132	chr10:54013745-54013746	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561758896	chr10:54013746-54013747	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs559963080	chr10:54013757-54013758	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530319985	chr10:54013778-54013779	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs550110738	chr10:54013815-54013816	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs545705721	chr10:54013832-54013833	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs111666570	chr10:54013848-54013849	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs565180407	chr10:54013851-54013852	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs113389331	chr10:54013857-54013858	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs550803697	chr10:54013877-54013878	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs188300840	chr10:54013881-54013882	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs140739687	chr10:54013896-54013897	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs180813964	chr10:54013919-54013920	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54002000-54042000	Weak transcription	Aorta	Aorta
2	chr10:54008800-54016600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:54010000-54023200	Weak transcription	Psoas Muscle	Psoas
4	chr10:54010800-54014200	Active TSS	Fetal Muscle Leg	muscle
5	chr10:54011000-54016600	Weak transcription	HSMM	muscle
6	chr10:54011200-54013200	Active TSS	HSMMtube	muscle
7	chr10:54011400-54014600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:54012400-54013800	Active TSS	Fetal Muscle Trunk	muscle
9	chr10:54012400-54014600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:54012800-54019000	Weak transcription	Right Atrium	heart
11	chr10:54013200-54014600	Weak transcription	HSMMtube	muscle
12	chr10:54014200-54016800	Weak transcription	Fetal Muscle Leg	muscle
13	chr10:54014600-54014800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:54014600-54014800	Enhancers	HSMMtube	muscle
15	chr10:54014600-54015000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr10:54014600-54015200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr10:54014800-54015200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:54014800-54016400	Weak transcription	HSMMtube	muscle
19	chr10:54015000-54016600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr10:54015200-54016000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:54015200-54018600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:54016000-54017400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr10:54016000-54019600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:54016000-54019600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr10:54016200-54016600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:54016200-54016800	Enhancers	Hela-S3	cervix
27	chr10:54016200-54017200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr10:54016400-54016800	Enhancers	HSMMtube	muscle
29	chr10:54016400-54017200	Enhancers	HMEC	breast
30	chr10:54016400-54017400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr10:54016400-54017400	Enhancers	NHEK	skin
32	chr10:54016600-54016800	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr10:54016600-54016800	Enhancers	GM12878-XiMat	blood
34	chr10:54016600-54017000	Enhancers	Fetal Intestine Large	intestine
35	chr10:54016600-54017200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr10:54016600-54017200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:54016600-54017200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr10:54016600-54017200	Enhancers	HSMM	muscle
39	chr10:54016600-54017400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:54016600-54017400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:54016600-54017400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:54016600-54017400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr10:54016600-54017400	Enhancers	A549	lung
44	chr10:54016800-54017000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr10:54016800-54017200	Flanking Active TSS	HSMMtube	muscle
46	chr10:54016800-54017400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:54016800-54017400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:54016800-54017400	Enhancers	Fetal Muscle Leg	muscle
49	chr10:54016800-54017400	Enhancers	Left Ventricle	heart
50	chr10:54016800-54017400	Flanking Active TSS	GM12878-XiMat	blood

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