Variant report

Variant	esv3407996
Chromosome Location	chr10:4054377-4056925
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	chr10:3826838..3829190-chr10:4056684..4059245,3	K562	blood:

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115249251	chr10:4054419-4054420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556159271	chr10:4054447-4054448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527917444	chr10:4054498-4054499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577654941	chr10:4054568-4054569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369707565	chr10:4054581-4054582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373475782	chr10:4054586-4054587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7077002	chr10:4054600-4054601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553913711	chr10:4054611-4054612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34551735	chr10:4054629-4054630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572237052	chr10:4054634-4054635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542863946	chr10:4054657-4054658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72774745	chr10:4054666-4054667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553901806	chr10:4054674-4054675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531664819	chr10:4054679-4054680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543441760	chr10:4054733-4054734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76390552	chr10:4054780-4054781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532372823	chr10:4054802-4054803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572452116	chr10:4054803-4054804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547448075	chr10:4054834-4054835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192467947	chr10:4054835-4054836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572982118	chr10:4054911-4054912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182330487	chr10:4054912-4054913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145900832	chr10:4054913-4054914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537790703	chr10:4054938-4054939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555884070	chr10:4054958-4054959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571177301	chr10:4054978-4054979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200087439	chr10:4054983-4054984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538653166	chr10:4054988-4054989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186605254	chr10:4055002-4055003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572198536	chr10:4055010-4055011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111806713	chr10:4055015-4055016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192758627	chr10:4055029-4055030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11252266	chr10:4055039-4055040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576252684	chr10:4055055-4055056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142404269	chr10:4055070-4055071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565045198	chr10:4055100-4055101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576793844	chr10:4055118-4055119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541052642	chr10:4055172-4055173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559402282	chr10:4055187-4055188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530168946	chr10:4055232-4055233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548487927	chr10:4055249-4055250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11252267	chr10:4055283-4055284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117881158	chr10:4055299-4055300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372963479	chr10:4055303-4055304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552800437	chr10:4055323-4055324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184779383	chr10:4055330-4055331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145695158	chr10:4055332-4055333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538616460	chr10:4055383-4055384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375899323	chr10:4055398-4055399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555994749	chr10:4055455-4055456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4043400-4055800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4047400-4055800	Weak transcription	Psoas Muscle	Psoas
3	chr10:4047400-4058400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:4051800-4055800	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:4052000-4054400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:4052200-4056000	Weak transcription	Fetal Heart	heart
7	chr10:4052600-4056000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:4054000-4055000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:4054400-4054600	Enhancers	Fetal Muscle Trunk	muscle
10	chr10:4054600-4056000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:4054800-4055000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:4054800-4055200	Enhancers	Primary T cells from cord blood	blood
13	chr10:4054800-4055200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr10:4054800-4055400	Enhancers	Dnd41	blood
15	chr10:4054800-4056000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr10:4054800-4056400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:4055000-4055600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:4055000-4056200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr10:4055000-4056600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:4055200-4055600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:4055200-4056200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:4055600-4055800	Enhancers	Esophagus	oesophagus
23	chr10:4055600-4055800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr10:4055600-4055800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr10:4055600-4055800	Active TSS	GM12878-XiMat	blood
26	chr10:4055600-4055800	Enhancers	HSMM	muscle
27	chr10:4055600-4056200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:4055600-4056200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:4055600-4056400	Enhancers	NHEK	skin
30	chr10:4055800-4056200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:4055800-4056200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr10:4055800-4056200	Enhancers	Primary B cells from peripheral blood	blood
33	chr10:4055800-4056200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr10:4055800-4056200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:4055800-4056200	Enhancers	Adipose Nuclei	Adipose
36	chr10:4055800-4056200	Flanking Active TSS	Esophagus	oesophagus
37	chr10:4055800-4056200	Enhancers	Left Ventricle	heart
38	chr10:4055800-4056200	Enhancers	Lung	lung
39	chr10:4055800-4056200	Enhancers	Psoas Muscle	Psoas
40	chr10:4055800-4056200	Enhancers	Right Atrium	heart
41	chr10:4055800-4056200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr10:4055800-4056200	Flanking Active TSS	GM12878-XiMat	blood
43	chr10:4055800-4056200	Flanking Active TSS	HSMM	muscle
44	chr10:4055800-4056400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:4055800-4056400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr10:4055800-4056400	Enhancers	Brain Hippocampus Middle	brain
47	chr10:4055800-4056400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr10:4055800-4056600	Enhancers	Fetal Muscle Leg	muscle
49	chr10:4055800-4057400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:4056000-4056400	Enhancers	Fetal Muscle Trunk	muscle

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