Variant report

Variant	nsv821790
Chromosome Location	chr2:172848378-172854109
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172849902..172852989-chr2:172863264..172866294,5	K562	blood:
2	chr2:172842580..172844275-chr2:172846200..172848485,2	K562	blood:
3	chr2:172851801..172855729-chr2:172948851..172951806,4	K562	blood:
4	chr2:172853346..172855729-chr2:172950306..172952134,2	K562	blood:
5	chr2:172822526..172824288-chr2:172851603..172854588,2	K562	blood:
6	chr2:172844744..172846425-chr2:172851326..172853305,2	K562	blood:
7	chr2:172846612..172849419-chr2:172950654..172952624,2	K562	blood:
8	chr2:172853366..172855410-chr2:172959572..172961641,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144355	chromatin interactions
ENSG00000172878	chromatin interactions
ENSG00000115840	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559419625	chr2:172848499-172848500	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564507241	chr2:172848504-172848505	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536744441	chr2:172848537-172848538	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532941747	chr2:172848539-172848540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544954702	chr2:172848577-172848578	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563455997	chr2:172848657-172848658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530785238	chr2:172848713-172848714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138254751	chr2:172848721-172848722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567112255	chr2:172848751-172848752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376105357	chr2:172848864-172848865	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528606598	chr2:172848871-172848872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79358018	chr2:172848929-172848930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374978450	chr2:172848930-172848931	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369325385	chr2:172848931-172848932	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371703672	chr2:172848932-172848933	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs398060783	chr2:172848933-172848934	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181967873	chr2:172848985-172848986	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142744306	chr2:172849072-172849073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533754991	chr2:172849120-172849121	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377446982	chr2:172849142-172849143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185199816	chr2:172849154-172849155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146051631	chr2:172849194-172849195	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139792281	chr2:172849217-172849218	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569460543	chr2:172849227-172849228	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149366681	chr2:172849233-172849234	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538399505	chr2:172849240-172849241	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144549914	chr2:172849280-172849281	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115101293	chr2:172849315-172849316	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189755774	chr2:172849331-172849332	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148454395	chr2:172849351-172849352	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577783980	chr2:172849415-172849416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74534862	chr2:172849482-172849483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112419612	chr2:172849483-172849484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575487761	chr2:172849514-172849515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560829282	chr2:172849531-172849532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182413901	chr2:172849630-172849631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202076700	chr2:172849639-172849640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560774678	chr2:172849644-172849645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188217298	chr2:172849675-172849676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546363792	chr2:172849763-172849764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565044649	chr2:172849791-172849792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532600334	chr2:172849847-172849848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191361249	chr2:172849849-172849850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562791606	chr2:172849885-172849886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531785717	chr2:172849934-172849935	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs147214793	chr2:172849962-172849963	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs532158656	chr2:172850028-172850029	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs548884902	chr2:172850035-172850036	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs113952045	chr2:172850064-172850065	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs183466164	chr2:172850121-172850122	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
3	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:172796000-172855200	Weak transcription	Gastric	stomach
5	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
9	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
10	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
11	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:172823000-172850400	Weak transcription	Right Ventricle	heart
13	chr2:172823800-172851200	Weak transcription	Fetal Kidney	kidney
14	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:172824200-172850000	Weak transcription	NHDF-Ad	bronchial
17	chr2:172824200-172850400	Weak transcription	HMEC	breast
18	chr2:172826400-172848400	Weak transcription	Hela-S3	cervix
19	chr2:172835800-172850200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:172836200-172851000	Strong transcription	Dnd41	blood
21	chr2:172836400-172849200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:172836400-172851000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:172838800-172849200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:172839200-172849000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:172839200-172849800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:172840000-172849200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:172840200-172849000	Strong transcription	Liver	Liver
28	chr2:172840200-172849400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:172840600-172848400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:172840600-172849000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:172840800-172857600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:172841000-172849000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:172841000-172849000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:172841000-172849200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:172841000-172849400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:172841000-172849600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:172842400-172849800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:172842600-172848400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:172842600-172849000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:172842800-172849000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:172843000-172849200	Strong transcription	Primary B cells from cord blood	blood
42	chr2:172843400-172852800	Weak transcription	Aorta	Aorta
43	chr2:172844000-172854000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:172844200-172849800	Weak transcription	NHEK	skin
45	chr2:172844200-172857200	Weak transcription	Brain Germinal Matrix	brain
46	chr2:172844400-172849000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:172844400-172857400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:172844600-172849800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:172844600-172850200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:172844600-172855600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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