Variant report

Variant	nsv1004207
Chromosome Location	chr2:142684812-142741653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142739830..142742174-chr3:18836564..18839208,2	MCF-7	breast:
2	chr2:142711817..142713467-chr2:142714243..142716438,2	MCF-7	breast:
3	chr1:113162257..113162758-chr2:142690590..142691090,2	Hela-S3	cervix:
4	chr2:142691573..142694567-chr2:142695024..142697127,2	MCF-7	breast:
5	chr2:142680757..142682303-chr2:142682343..142684939,2	MCF-7	breast:
6	chr2:142727023..142728732-chr2:142750401..142753151,2	MCF-7	breast:
7	chr2:142691573..142694567-chr2:142695024..142697127,2	MCF-7	breast:
8	chr2:142711817..142713467-chr2:142714243..142716438,2	MCF-7	breast:
9	chr2:142703652..142704157-chr2:142795131..142795850,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116489	chromatin interactions
ENSG00000007341	chromatin interactions

Extended variants
information (count: 963 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:963 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2890622	chr2:142684812-142684813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551145730	chr2:142684814-142684815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571041784	chr2:142684846-142684847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78012898	chr2:142684896-142684897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547096234	chr2:142684897-142684898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144208434	chr2:142684903-142684904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185045569	chr2:142684913-142684914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146612554	chr2:142684976-142684977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34642842	chr2:142684979-142684980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75134657	chr2:142685017-142685018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575991343	chr2:142685032-142685033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538465413	chr2:142685060-142685061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558355693	chr2:142685091-142685092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578155654	chr2:142685096-142685097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539845339	chr2:142685103-142685104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560288729	chr2:142685144-142685145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190332930	chr2:142685149-142685150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145889340	chr2:142685178-142685179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114914498	chr2:142685182-142685183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79491286	chr2:142685196-142685197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181846853	chr2:142685251-142685252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551187010	chr2:142685267-142685268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556565130	chr2:142685283-142685284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527406280	chr2:142685295-142685296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72986524	chr2:142685308-142685309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13013316	chr2:142685324-142685325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536277497	chr2:142685385-142685386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73964841	chr2:142685399-142685400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs920106	chr2:142685471-142685472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372854101	chr2:142685472-142685473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5834879	chr2:142685473-142685474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73964842	chr2:142685490-142685491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375705716	chr2:142685494-142685495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73964843	chr2:142685502-142685503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80187108	chr2:142685513-142685514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569589869	chr2:142685524-142685525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538504982	chr2:142685598-142685599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368187315	chr2:142685674-142685675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184842214	chr2:142685693-142685694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578182172	chr2:142685748-142685749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs892886	chr2:142685758-142685759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554282798	chr2:142685796-142685797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574035389	chr2:142685819-142685820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72852503	chr2:142685827-142685828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556113500	chr2:142685828-142685829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189616726	chr2:142685829-142685830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544865797	chr2:142685837-142685838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575122235	chr2:142685856-142685857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564743145	chr2:142685871-142685872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140024252	chr2:142685913-142685914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142682200-142685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:142682400-142685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:142682400-142685200	Weak transcription	HMEC	breast
4	chr2:142683000-142688400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:142683400-142688000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:142684200-142687600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:142684800-142685200	Weak transcription	NHDF-Ad	bronchial
8	chr2:142685200-142685800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:142685200-142685800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:142685200-142685800	Enhancers	HMEC	breast
11	chr2:142685200-142686800	Enhancers	NHDF-Ad	bronchial
12	chr2:142686800-142687000	Flanking Active TSS	NHDF-Ad	bronchial
13	chr2:142687000-142687400	Active TSS	NHDF-Ad	bronchial
14	chr2:142687000-142687600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:142687400-142687800	Weak transcription	NHDF-Ad	bronchial
16	chr2:142687600-142688200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:142687600-142688200	Enhancers	Adipose Nuclei	Adipose
18	chr2:142687600-142689000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:142687800-142688800	Enhancers	NHDF-Ad	bronchial
20	chr2:142688000-142688200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:142688200-142688800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:142688400-142689000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:142688800-142689000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:142688800-142689600	Enhancers	Fetal Brain Female	brain
25	chr2:142689000-142689200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:142689200-142689600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:142695400-142696200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:142696200-142698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:142697200-142700000	Enhancers	Brain Substantia Nigra	brain
30	chr2:142698000-142699400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:142698000-142700400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:142698200-142699600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:142698200-142700400	Enhancers	Brain Anterior Caudate	brain
34	chr2:142698400-142699200	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:142698400-142699200	Enhancers	Brain Hippocampus Middle	brain
36	chr2:142698600-142699800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:142698800-142699200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:142699200-142700200	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:142699200-142700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:142699400-142701600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:142700000-142701600	Weak transcription	Brain Substantia Nigra	brain
42	chr2:142700200-142700400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:142700200-142700600	Enhancers	Brain Hippocampus Middle	brain
44	chr2:142700400-142703800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:142700600-142701600	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:142701600-142701800	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr2:142701600-142702000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:142701600-142702200	Active TSS	Brain Substantia Nigra	brain
49	chr2:142701800-142702000	Active TSS	Brain Hippocampus Middle	brain
50	chr2:142703600-142704200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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