Variant report

Variant	esv1803157
Chromosome Location	chr10:54002801-54016619
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
3	lnc-MBL2-5	chr10:54011725-54012596	ENSG00000236671.3
4	lnc-MBL2-5	chr10:54011725-54012596	ENSG00000236671

Variant related genes	Relation type
ZNF280B	miRNA target sites

Extended variants
information (count: 490 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1875792	chr10:54002801-54002802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539782873	chr10:54002833-54002834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148120485	chr10:54002947-54002948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1875793	chr10:54002978-54002979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1875794	chr10:54003008-54003009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1729573	chr10:54003042-54003043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141732687	chr10:54003105-54003106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193202512	chr10:54003152-54003153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201369416	chr10:54003202-54003203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1875795	chr10:54003220-54003221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540477958	chr10:54003313-54003314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184349640	chr10:54003394-54003395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532338432	chr10:54003405-54003406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150572890	chr10:54003446-54003447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138085074	chr10:54003469-54003470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114205602	chr10:54003473-54003474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531218056	chr10:54003487-54003488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562576762	chr10:54003527-54003528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548141750	chr10:54003538-54003539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567941214	chr10:54003624-54003625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527414840	chr10:54003633-54003634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531491782	chr10:54003634-54003635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547165850	chr10:54003691-54003692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187238912	chr10:54003721-54003722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74135378	chr10:54003769-54003770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556446343	chr10:54003811-54003812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140515392	chr10:54003851-54003852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16928359	chr10:54003856-54003857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs74135379	chr10:54003876-54003877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572335890	chr10:54003943-54003944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541557518	chr10:54004004-54004005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558280988	chr10:54004011-54004012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577115641	chr10:54004086-54004087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11001339	chr10:54004121-54004122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs80313648	chr10:54004133-54004134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574771036	chr10:54004156-54004157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562792807	chr10:54004213-54004214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1213068	chr10:54004278-54004279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201543060	chr10:54004291-54004292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs36055516	chr10:54004292-54004293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67513214	chr10:54004293-54004294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56206870	chr10:54004294-54004295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541742071	chr10:54004305-54004306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72787337	chr10:54004343-54004344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114246473	chr10:54004358-54004359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12218397	chr10:54004393-54004394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570169532	chr10:54004429-54004430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199767178	chr10:54004431-54004432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199582721	chr10:54004437-54004438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529689371	chr10:54004455-54004456	Weak transcription	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54002000-54042000	Weak transcription	Aorta	Aorta
2	chr10:54007000-54008600	Enhancers	HMEC	breast
3	chr10:54007200-54008400	Enhancers	NHEK	skin
4	chr10:54007600-54008000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:54007800-54008000	Enhancers	Fetal Muscle Trunk	muscle
6	chr10:54007800-54008400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:54008000-54010600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:54008800-54016600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:54009200-54011000	Enhancers	HSMMtube	muscle
10	chr10:54009400-54009800	Enhancers	Fetal Muscle Leg	muscle
11	chr10:54009400-54010000	Enhancers	Psoas Muscle	Psoas
12	chr10:54009600-54009800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr10:54009800-54010000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr10:54009800-54010200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr10:54009800-54010800	Weak transcription	Fetal Muscle Leg	muscle
16	chr10:54009800-54011400	Enhancers	Fetal Heart	heart
17	chr10:54010000-54010200	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr10:54010000-54011000	Enhancers	HSMM	muscle
19	chr10:54010000-54023200	Weak transcription	Psoas Muscle	Psoas
20	chr10:54010200-54010400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr10:54010200-54010600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr10:54010200-54011000	Enhancers	Left Ventricle	heart
23	chr10:54010400-54010600	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr10:54010400-54010800	Enhancers	NHLF	lung
25	chr10:54010600-54010800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr10:54010600-54010800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr10:54010600-54011600	Active TSS	Fetal Muscle Trunk	muscle
28	chr10:54010800-54011000	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr10:54010800-54011400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr10:54010800-54014200	Active TSS	Fetal Muscle Leg	muscle
31	chr10:54011000-54011200	Flanking Active TSS	HSMMtube	muscle
32	chr10:54011000-54011600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr10:54011000-54016600	Weak transcription	HSMM	muscle
34	chr10:54011200-54013200	Active TSS	HSMMtube	muscle
35	chr10:54011400-54011800	Weak transcription	Fetal Heart	heart
36	chr10:54011400-54014600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr10:54011600-54012400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:54011600-54012400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr10:54011800-54012400	Enhancers	Fetal Heart	heart
40	chr10:54012200-54012800	Active TSS	Right Atrium	heart
41	chr10:54012400-54013800	Active TSS	Fetal Muscle Trunk	muscle
42	chr10:54012400-54014600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:54012800-54019000	Weak transcription	Right Atrium	heart
44	chr10:54013200-54014600	Weak transcription	HSMMtube	muscle
45	chr10:54014200-54016800	Weak transcription	Fetal Muscle Leg	muscle
46	chr10:54014600-54014800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:54014600-54014800	Enhancers	HSMMtube	muscle
48	chr10:54014600-54015000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr10:54014600-54015200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr10:54014800-54015200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links