Variant report

Variant	esv3447436
Chromosome Location	chr2:172905006-172911904
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172909513..172911907-chr2:172948039..172950967,2	MCF-7	breast:
2	chr2:172904432..172906257-chr2:172909270..172911024,2	K562	blood:
3	chr2:172901825..172905111-chr2:172958470..172962198,5	MCF-7	breast:
4	chr2:172805225..172806853-chr2:172911394..172913520,2	K562	blood:
5	chr2:172909379..172916271-chr2:172947539..172952263,13	K562	blood:
6	chr2:172904432..172906257-chr2:172909270..172911024,2	K562	blood:
7	chr2:172906506..172908883-chr2:172947128..172949722,2	MCF-7	breast:
8	chr2:172911399..172913242-chr2:172927772..172930159,2	K562	blood:
9	chr2:172904144..172906423-chr2:172922589..172924377,2	MCF-7	breast:
10	chr2:172901732..172906441-chr2:172911766..172917938,8	K562	blood:
11	chr2:172896231..172898804-chr2:172903539..172906403,3	K562	blood:
12	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
13	chr2:172909670..172912609-chr2:172916665..172919120,2	MCF-7	breast:
14	chr2:172903157..172907693-chr2:172948761..172951309,4	MCF-7	breast:
15	chr2:172894190..172896473-chr2:172910929..172913288,2	K562	blood:
16	chr2:172903935..172905643-chr2:172934942..172937161,2	MCF-7	breast:
17	chr2:172901921..172905424-chr2:172916575..172920187,5	MCF-7	breast:
18	chr2:172909159..172912131-chr2:172917033..172919851,3	MCF-7	breast:
19	chr2:172910524..172912386-chr2:172915560..172917116,2	K562	blood:
20	chr2:172863850..172866643-chr2:172902053..172905217,4	MCF-7	breast:
21	chr2:172908370..172912601-chr2:172912982..172915334,3	K562	blood:
22	chr2:172903508..172905484-chr2:172912161..172915678,3	MCF-7	breast:
23	chr2:172904276..172906441-chr2:172912588..172915159,2	K562	blood:
24	chr2:172903562..172906519-chr2:172947983..172949880,2	K562	blood:
25	chr2:172903155..172905695-chr2:172921268..172923071,2	K562	blood:
26	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
27	chr2:172901732..172906441-chr2:172911766..172917938,8	K562	blood:
28	chr2:172910103..172911798-chr2:172947544..172950259,2	MCF-7	breast:
29	chr2:172900542..172905634-chr2:172946761..172951890,10	MCF-7	breast:
30	chr2:172911212..172913559-chr2:172957702..172960003,2	MCF-7	breast:
31	chr2:172897089..172900010-chr2:172909839..172912586,2	K562	blood:

No data

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

Extended variants
information (count: 409 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554622456	chr2:172905016-172905017	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs539718887	chr2:172905030-172905031	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs189627926	chr2:172905032-172905033	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs534085901	chr2:172905047-172905048	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs367892842	chr2:172905078-172905079	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs558852737	chr2:172905098-172905099	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs572784226	chr2:172905101-172905102	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs111659473	chr2:172905124-172905125	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs577007863	chr2:172905156-172905157	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs544370417	chr2:172905160-172905161	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs1965159	chr2:172905164-172905165	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574889471	chr2:172905165-172905166	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs555017554	chr2:172905193-172905194	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs180673525	chr2:172905257-172905258	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs112282265	chr2:172905289-172905290	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560117129	chr2:172905304-172905305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs527639136	chr2:172905384-172905385	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548128554	chr2:172905420-172905421	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs544358790	chr2:172905431-172905432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs150342737	chr2:172905436-172905437	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531839602	chr2:172905457-172905458	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs185343708	chr2:172905482-172905483	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs562108354	chr2:172905501-172905502	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529820875	chr2:172905510-172905511	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs548262278	chr2:172905531-172905532	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs566486426	chr2:172905534-172905535	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375730910	chr2:172905579-172905580	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs115524160	chr2:172905590-172905591	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs75380836	chr2:172905655-172905656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34737109	chr2:172905689-172905690	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs570707636	chr2:172905736-172905737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376045176	chr2:172905750-172905751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556343636	chr2:172905751-172905752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574500157	chr2:172905791-172905792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34054371	chr2:172905817-172905818	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs116757963	chr2:172905838-172905839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs62183820	chr2:172905847-172905848	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545770579	chr2:172905964-172905965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566075351	chr2:172906023-172906024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13023279	chr2:172906038-172906039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375237675	chr2:172906114-172906115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376783705	chr2:172906128-172906129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563168253	chr2:172906156-172906157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371790209	chr2:172906226-172906227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190141045	chr2:172906229-172906230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562313426	chr2:172906244-172906245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183190498	chr2:172906247-172906248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186501855	chr2:172906250-172906251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529472268	chr2:172906271-172906272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191812599	chr2:172906285-172906286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172901200-172907400	Weak transcription	Fetal Kidney	kidney
2	chr2:172907400-172907800	ZNF genes & repeats	Fetal Kidney	kidney
3	chr2:172907800-172916000	Weak transcription	Fetal Kidney	kidney
4	chr2:172910600-172911000	Enhancers	Primary T cells from cord blood	blood
5	chr2:172910600-172911000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:172910600-172911400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:172910600-172911400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:172910600-172911400	Enhancers	Dnd41	blood
9	chr2:172910800-172911200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:172910800-172911200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:172910800-172911200	Enhancers	HSMM	muscle
12	chr2:172910800-172911400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:172910800-172911400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:172910800-172911400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:172910800-172911400	Enhancers	K562	blood
16	chr2:172911000-172912200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:172911000-172930000	Weak transcription	Primary T cells from cord blood	blood
18	chr2:172911200-172912800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:172911200-172915600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:172911200-172947200	Weak transcription	HSMM	muscle
21	chr2:172911400-172911800	Weak transcription	K562	blood
22	chr2:172911400-172914400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:172911400-172915200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:172911400-172916400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:172911400-172916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:172911400-172916800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:172911600-172912200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:172911600-172913400	Enhancers	HepG2	liver
29	chr2:172911800-172913400	Enhancers	K562	blood

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