Variant report

Variant	nsv979390
Chromosome Location	chr2:142883251-142888150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:142320561..142322150-chr2:142885194..142887458,2	MCF-7	breast:
2	chr14:36295331..36295851-chr2:142887972..142888603,2	Hela-S3	cervix:
3	chr1:173835516..173837699-chr2:142887430..142889764,2	MCF-7	breast:
4	chr2:97534313..97536042-chr2:142885468..142888404,2	MCF-7	breast:
5	chr2:142854531..142857434-chr2:142881321..142883882,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234741	chromatin interactions
ENSG00000185278	chromatin interactions
ENSG00000100916	chromatin interactions
ENSG00000168758	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:215 , 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	rs115259709	chr2:142883285-142883286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576992508	chr2:142883305-142883306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72852624	chr2:142883320-142883321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559372183	chr2:142883339-142883340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372925833	chr2:142883402-142883403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144119592	chr2:142883403-142883404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181849588	chr2:142883496-142883497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561866655	chr2:142883520-142883521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530810606	chr2:142883536-142883537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186446205	chr2:142883572-142883573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534375141	chr2:142883610-142883611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202152374	chr2:142883614-142883615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146485700	chr2:142883617-142883618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187968069	chr2:142883639-142883640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11896128	chr2:142883642-142883643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374776519	chr2:142883651-142883652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570474834	chr2:142883667-142883668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533835265	chr2:142883682-142883683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548944533	chr2:142883722-142883723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557677153	chr2:142883736-142883737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148836778	chr2:142883751-142883752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568733821	chr2:142883769-142883770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143279667	chr2:142883772-142883773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557333770	chr2:142883773-142883774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547307856	chr2:142883778-142883779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs969990	chr2:142883786-142883787	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553090268	chr2:142883820-142883821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148163202	chr2:142883835-142883836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557603621	chr2:142883906-142883907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151251551	chr2:142883943-142883944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180883447	chr2:142883965-142883966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186373776	chr2:142884005-142884006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140430453	chr2:142884021-142884022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575515287	chr2:142884074-142884075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544498887	chr2:142884077-142884078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539939138	chr2:142884089-142884090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374997993	chr2:142884100-142884101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191282316	chr2:142884107-142884108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1349224	chr2:142884148-142884149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560319167	chr2:142884173-142884174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150483486	chr2:142884177-142884178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138515187	chr2:142884247-142884248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1349223	chr2:142884248-142884249	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs111844603	chr2:142884255-142884256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540950182	chr2:142884260-142884261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73963457	chr2:142884277-142884278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10195203	chr2:142884288-142884289	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539677284	chr2:142884305-142884306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373641236	chr2:142884345-142884346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146863229	chr2:142884347-142884348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142877800-142884000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:142878200-142886800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:142878400-142883400	Weak transcription	Brain Anterior Caudate	brain
4	chr2:142879200-142887000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:142882400-142884600	Enhancers	Brain Hippocampus Middle	brain
6	chr2:142882800-142885600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:142883000-142885400	Weak transcription	Fetal Brain Male	brain
8	chr2:142883000-142885800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:142883400-142884600	Enhancers	Brain Anterior Caudate	brain
10	chr2:142884000-142884600	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:142884200-142884600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:142884600-142885400	Weak transcription	Brain Anterior Caudate	brain
13	chr2:142884600-142885400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:142884600-142885800	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:142885000-142887600	Active TSS	Fetal Brain Female	brain
16	chr2:142885400-142886400	Enhancers	Fetal Brain Male	brain
17	chr2:142885400-142887400	Active TSS	Brain Cingulate Gyrus	brain
18	chr2:142885400-142890800	Active TSS	Brain Anterior Caudate	brain
19	chr2:142885600-142890400	Active TSS	Brain Substantia Nigra	brain
20	chr2:142885800-142886800	Enhancers	Hela-S3	cervix
21	chr2:142885800-142887600	Active TSS	Brain Hippocampus Middle	brain
22	chr2:142885800-142889800	Active TSS	Brain Angular Gyrus	brain
23	chr2:142885800-142890000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:142886000-142890000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:142886400-142886600	Weak transcription	Fetal Brain Male	brain
26	chr2:142886600-142886800	Bivalent/Poised TSS	NH-A	brain
27	chr2:142886600-142887000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:142886600-142887400	Active TSS	Fetal Brain Male	brain
29	chr2:142886800-142887000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr2:142886800-142887000	Flanking Active TSS	Hela-S3	cervix
31	chr2:142887000-142887200	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr2:142887000-142887200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:142887000-142887400	Active TSS	Hela-S3	cervix
34	chr2:142887200-142887400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:142887200-142887400	Enhancers	Liver	Liver
36	chr2:142887200-142887400	Active TSS	Fetal Stomach	stomach
37	chr2:142887200-142887400	Active TSS	Stomach Smooth Muscle	stomach
38	chr2:142887200-142887600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr2:142887200-142889000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr2:142887200-142889800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:142887400-142887600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:142887400-142887600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr2:142887400-142887600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr2:142887400-142887600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:142887400-142887600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:142887400-142887600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
47	chr2:142887400-142887600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:142887400-142887600	Enhancers	Adipose Nuclei	Adipose
49	chr2:142887400-142887600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr2:142887400-142887600	Bivalent Enhancer	Fetal Intestine Large	intestine

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