Variant report

Variant	nsv10129
Chromosome Location	chr2:114080875-114082808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:96000768..96001608-chr2:114082065..114082796,2	HCT-116	colon:
2	chr2:114081798..114083531-chr2:114086995..114089661,2	K562	blood:
3	chr2:114081925..114084093-chr2:114086383..114088538,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CBWD2-3	chr2:114082765-114083130	NONHSAT073777

Variant related genes	Relation type
ENSG00000247092	chromatin interactions
ENSG00000182512	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114962416	chr2:114080876-114080877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566355765	chr2:114080909-114080910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368577632	chr2:114080948-114080949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535345602	chr2:114080949-114080950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180765143	chr2:114080960-114080961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568356770	chr2:114080980-114080981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185207893	chr2:114081027-114081028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188240548	chr2:114081091-114081092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181099515	chr2:114081199-114081200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546390592	chr2:114081229-114081230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1191696	chr2:114081262-114081263	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs199863015	chr2:114081268-114081269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201314982	chr2:114081269-114081270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386649307	chr2:114081273-114081274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138106531	chr2:114081275-114081276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562371689	chr2:114081323-114081324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566068367	chr2:114081351-114081352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368477531	chr2:114081352-114081353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530387040	chr2:114081427-114081428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544213797	chr2:114081511-114081512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186593189	chr2:114081516-114081517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533023001	chr2:114081633-114081634	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs111270829	chr2:114081652-114081653	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546321011	chr2:114081654-114081655	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566319156	chr2:114081657-114081658	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529096699	chr2:114081771-114081772	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570157747	chr2:114081796-114081797	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62158169	chr2:114081827-114081828	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs569142028	chr2:114081951-114081952	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs568803176	chr2:114081957-114081958	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs55905973	chr2:114081996-114081997	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs537015490	chr2:114081999-114082000	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs68081074	chr2:114082002-114082003	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs60745456	chr2:114082004-114082005	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs550973105	chr2:114082006-114082007	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs570792632	chr2:114082021-114082022	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs2592415	chr2:114082116-114082117	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs57258055	chr2:114082119-114082120	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573427995	chr2:114082170-114082171	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs62158170	chr2:114082175-114082176	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs75658123	chr2:114082251-114082252	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs77529563	chr2:114082253-114082254	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs74961080	chr2:114082254-114082255	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs144377228	chr2:114082338-114082339	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs191537069	chr2:114082376-114082377	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564091434	chr2:114082577-114082578	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs199714947	chr2:114082625-114082626	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200817321	chr2:114082626-114082627	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs201638918	chr2:114082628-114082629	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577604331	chr2:114082640-114082641	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17440070	CNVD

Chromatin state (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114064600-114082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:114074200-114081000	Weak transcription	HMEC	breast
3	chr2:114074400-114081600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:114079600-114081800	Weak transcription	Esophagus	oesophagus
5	chr2:114080400-114081000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:114080400-114081600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:114080400-114082000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:114080600-114081200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:114080600-114081800	Weak transcription	HSMMtube	muscle
10	chr2:114080600-114082000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:114080600-114082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:114080600-114082000	Enhancers	A549	lung
13	chr2:114080600-114082200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:114080600-114082200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:114080800-114081600	Enhancers	Osteobl	bone
16	chr2:114080800-114081800	Enhancers	NHEK	skin
17	chr2:114080800-114082000	Enhancers	Fetal Brain Male	brain
18	chr2:114080800-114082200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:114081000-114082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:114081000-114082000	Enhancers	Fetal Lung	lung
21	chr2:114081000-114082200	Enhancers	Fetal Intestine Large	intestine
22	chr2:114081000-114082200	Enhancers	HMEC	breast
23	chr2:114081200-114081600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:114081200-114081800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:114081200-114081800	Enhancers	NH-A	brain
26	chr2:114081200-114082000	Enhancers	Hela-S3	cervix
27	chr2:114081200-114082600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:114081400-114082000	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:114081600-114081800	Enhancers	Fetal Brain Female	brain
30	chr2:114081600-114081800	Active TSS	Osteobl	bone
31	chr2:114081600-114082000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:114081600-114082000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:114081600-114082000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:114081600-114082000	Enhancers	Duodenum Mucosa	Duodenum
35	chr2:114081600-114082000	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr2:114081600-114082000	Enhancers	Fetal Stomach	stomach
37	chr2:114081600-114082000	Bivalent Enhancer	HepG2	liver
38	chr2:114081600-114082000	Enhancers	NHDF-Ad	bronchial
39	chr2:114081600-114082200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:114081600-114082200	Enhancers	Fetal Intestine Small	intestine
41	chr2:114081600-114082200	Enhancers	Placenta	Placenta
42	chr2:114081600-114082400	Enhancers	Fetal Heart	heart
43	chr2:114081600-114082600	Enhancers	Lung	lung
44	chr2:114081600-114083400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:114081800-114082000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:114081800-114082000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:114081800-114082000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:114081800-114082000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:114081800-114082000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:114081800-114082000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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