Variant report

Variant	nsv873892
Chromosome Location	chr2:40102764-40139250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:40004496..40006686-chr2:40138159..40140367,2	MCF-7	breast:
2	chr2:40100537..40101165-chr2:40112091..40112603,2	MCF-7	breast:
3	chr2:40127848..40131758-chr2:40131769..40134520,3	K562	blood:
4	chr2:40081608..40083244-chr2:40101423..40104022,3	MCF-7	breast:
5	chr2:40127848..40131758-chr2:40131769..40134520,3	K562	blood:

Variant related genes	Relation type
ENSG00000138050	chromatin interactions

Extended variants
information (count: 901 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:901 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7562741	chr2:40102764-40102765	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73927442	chr2:40102808-40102809	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563348905	chr2:40102810-40102811	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145337755	chr2:40102811-40102812	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553177883	chr2:40102830-40102831	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577811353	chr2:40102850-40102851	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73927443	chr2:40102858-40102859	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73927444	chr2:40102869-40102870	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75925930	chr2:40102878-40102879	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180899189	chr2:40102909-40102910	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568797867	chr2:40102949-40102950	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186249558	chr2:40102952-40102953	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373018919	chr2:40102976-40102977	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547672364	chr2:40103033-40103034	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147676169	chr2:40103059-40103060	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7355579	chr2:40103062-40103063	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149161857	chr2:40103065-40103066	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377637442	chr2:40103072-40103073	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564442500	chr2:40103090-40103091	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549439289	chr2:40103141-40103142	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143313194	chr2:40103187-40103188	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148233494	chr2:40103195-40103196	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140303513	chr2:40103220-40103221	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577781424	chr2:40103221-40103222	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145527149	chr2:40103231-40103232	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7355483	chr2:40103266-40103267	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73927445	chr2:40103272-40103273	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs200279850	chr2:40103278-40103279	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs540175923	chr2:40103309-40103310	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189918549	chr2:40103377-40103378	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs181391726	chr2:40103402-40103403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138148648	chr2:40103420-40103421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34857603	chr2:40103466-40103467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142693710	chr2:40103478-40103479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555138938	chr2:40103509-40103510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370199959	chr2:40103512-40103513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75715988	chr2:40103521-40103522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542882604	chr2:40103532-40103533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552037689	chr2:40103533-40103534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563961843	chr2:40103540-40103541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72944459	chr2:40103576-40103577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549348679	chr2:40103582-40103583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567658926	chr2:40103583-40103584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528540194	chr2:40103597-40103598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547090654	chr2:40103643-40103644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530231175	chr2:40103651-40103652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373941568	chr2:40103747-40103748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571680729	chr2:40103750-40103751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548619034	chr2:40103786-40103787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538433162	chr2:40103804-40103805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40099400-40102800	Weak transcription	HSMM	muscle
2	chr2:40101800-40102800	Weak transcription	NHLF	lung
3	chr2:40102000-40102800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:40102000-40103400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:40102000-40103400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:40102200-40102800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:40102200-40102800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:40102200-40103000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:40102400-40102800	Enhancers	Aorta	Aorta
10	chr2:40102400-40102800	Enhancers	Fetal Stomach	stomach
11	chr2:40102400-40103000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:40102400-40103000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:40102400-40103000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:40102400-40103000	Enhancers	NHEK	skin
15	chr2:40102400-40103200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:40102400-40103200	Enhancers	Brain Anterior Caudate	brain
17	chr2:40102400-40103200	Enhancers	NH-A	brain
18	chr2:40102400-40103400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:40102400-40103400	Enhancers	Ovary	ovary
20	chr2:40102400-40103400	Enhancers	A549	lung
21	chr2:40102400-40103400	Enhancers	HMEC	breast
22	chr2:40102400-40103400	Enhancers	Osteobl	bone
23	chr2:40102400-40103600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:40102400-40103600	Enhancers	Colon Smooth Muscle	Colon
25	chr2:40102600-40103000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:40102600-40103200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr2:40102600-40103200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:40102600-40103200	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr2:40102600-40103400	Enhancers	Adipose Nuclei	Adipose
30	chr2:40102600-40103400	Enhancers	NHDF-Ad	bronchial
31	chr2:40102800-40103000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:40102800-40103200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:40102800-40103200	Enhancers	HSMM	muscle
34	chr2:40102800-40103400	Enhancers	Esophagus	oesophagus
35	chr2:40102800-40103400	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:40102800-40103600	Enhancers	NHLF	lung
37	chr2:40103000-40103200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:40103000-40103600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:40103200-40103400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:40103200-40103400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:40103200-40103400	Enhancers	Aorta	Aorta
42	chr2:40103200-40103400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:40103200-40103400	Enhancers	Stomach Smooth Muscle	stomach
44	chr2:40103400-40108400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:40103400-40108800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:40103400-40108800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:40103400-40108800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:40103400-40108800	Weak transcription	NHDF-Ad	bronchial
49	chr2:40103400-40108800	Weak transcription	Osteobl	bone
50	chr2:40103600-40108600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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