Variant report

Variant	nsv583238
Chromosome Location	chr2:142646363-142739121
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142645417..142646930-chr2:142887013..142889010,2	MCF-7	breast:
2	chr1:113162257..113162758-chr2:142690590..142691090,2	Hela-S3	cervix:
3	chr2:142265321..142267918-chr2:142664161..142666622,2	MCF-7	breast:
4	chr2:142703652..142704157-chr2:142795131..142795850,2	MCF-7	breast:
5	chr2:142691573..142694567-chr2:142695024..142697127,2	MCF-7	breast:
6	chr2:142711817..142713467-chr2:142714243..142716438,2	MCF-7	breast:
7	chr2:142691573..142694567-chr2:142695024..142697127,2	MCF-7	breast:
8	chr2:142643953..142646265-chr2:142650747..142652298,2	MCF-7	breast:
9	chr2:142680757..142682303-chr2:142682343..142684939,2	MCF-7	breast:
10	chr2:142664496..142667216-chr2:142887866..142889638,2	MCF-7	breast:
11	chr2:142711817..142713467-chr2:142714243..142716438,2	MCF-7	breast:
12	chr2:142680757..142682303-chr2:142682343..142684939,2	MCF-7	breast:
13	chr2:142727023..142728732-chr2:142750401..142753151,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168702	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000116489	chromatin interactions

Extended variants
information (count: 1546 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1546 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1991997	chr2:142646363-142646364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559085401	chr2:142646435-142646436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs72849402	chr2:142646442-142646443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541731539	chr2:142646456-142646457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1991998	chr2:142646459-142646460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138695297	chr2:142646475-142646476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550021914	chr2:142646489-142646490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570091630	chr2:142646505-142646506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555013694	chr2:142646544-142646545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12611498	chr2:142646546-142646547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544517593	chr2:142646590-142646591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13408365	chr2:142646622-142646623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140086435	chr2:142646643-142646644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79885242	chr2:142646683-142646684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12618005	chr2:142646700-142646701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368071175	chr2:142646745-142646746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537212159	chr2:142646762-142646763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556786108	chr2:142646769-142646770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12611558	chr2:142646770-142646771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545571830	chr2:142646776-142646777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552969300	chr2:142646793-142646794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12621414	chr2:142646799-142646800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555991609	chr2:142646817-142646818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12618032	chr2:142646824-142646825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188703424	chr2:142646834-142646835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138076492	chr2:142646841-142646842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10201276	chr2:142646845-142646846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563726974	chr2:142646885-142646886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10165154	chr2:142646934-142646935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149513700	chr2:142646935-142646936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11900253	chr2:142646957-142646958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375050713	chr2:142646969-142646970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11895886	chr2:142647096-142647097	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548091380	chr2:142647134-142647135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567970426	chr2:142647163-142647164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373110265	chr2:142647191-142647192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11884984	chr2:142647210-142647211	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs145987017	chr2:142647213-142647214	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs11895935	chr2:142647221-142647222	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553076986	chr2:142647227-142647228	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs138866303	chr2:142647270-142647271	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535398415	chr2:142647279-142647280	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555304272	chr2:142647357-142647358	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs142084439	chr2:142647358-142647359	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs35247951	chr2:142647390-142647391	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs532749984	chr2:142647391-142647392	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs548050519	chr2:142647406-142647407	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs34118634	chr2:142647422-142647423	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs192371568	chr2:142647443-142647444	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs146330039	chr2:142647495-142647496	Enhancers Weak transcription Active TSS	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:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142640400-142647000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:142645000-142647200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr2:142646000-142647200	Enhancers	Brain Substantia Nigra	brain
4	chr2:142646600-142647400	Enhancers	Brain Angular Gyrus	brain
5	chr2:142646600-142647600	Enhancers	Brain Hippocampus Middle	brain
6	chr2:142647000-142647400	Enhancers	Brain Anterior Caudate	brain
7	chr2:142647000-142647400	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:142647000-142647800	Enhancers	Brain Germinal Matrix	brain
9	chr2:142647200-142647400	Flanking Active TSS	Brain Substantia Nigra	brain
10	chr2:142647400-142647800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:142647400-142647800	Active TSS	Brain Substantia Nigra	brain
12	chr2:142647400-142648200	Weak transcription	Brain Anterior Caudate	brain
13	chr2:142648200-142648400	Enhancers	Brain Anterior Caudate	brain
14	chr2:142658000-142658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:142658200-142658800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:142658400-142659000	Enhancers	HMEC	breast
17	chr2:142658400-142659200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:142658600-142659000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:142658800-142659000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:142659000-142664000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:142664000-142664600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:142669000-142669400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:142669000-142669400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:142669000-142669400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:142669000-142669400	Enhancers	Brain Anterior Caudate	brain
26	chr2:142680600-142682200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:142680600-142682400	Enhancers	HMEC	breast
28	chr2:142681200-142681800	Enhancers	Hela-S3	cervix
29	chr2:142681200-142682000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:142681200-142682400	Enhancers	NH-A	brain
31	chr2:142681400-142682000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:142681600-142681800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:142681600-142682400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:142681800-142682000	Enhancers	Gastric	stomach
35	chr2:142681800-142682000	Enhancers	NHDF-Ad	bronchial
36	chr2:142681800-142683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:142682000-142682400	Enhancers	Pancreas	Pancrea
38	chr2:142682000-142683000	Weak transcription	NHDF-Ad	bronchial
39	chr2:142682200-142685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:142682400-142685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:142682400-142685200	Weak transcription	HMEC	breast
42	chr2:142683000-142683400	Enhancers	NHDF-Ad	bronchial
43	chr2:142683000-142688400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:142683200-142683400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:142683200-142683600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:142683400-142684600	Weak transcription	NHDF-Ad	bronchial
47	chr2:142683400-142688000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:142683600-142684000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:142684000-142684200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:142684200-142687600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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