Variant report

Variant	esv1004708
Chromosome Location	chr2:172906089-172911234
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172909379..172916271-chr2:172947539..172952263,13	K562	blood:
2	chr2:172904432..172906257-chr2:172909270..172911024,2	K562	blood:
3	chr2:172903157..172907693-chr2:172948761..172951309,4	MCF-7	breast:
4	chr2:172909670..172912609-chr2:172916665..172919120,2	MCF-7	breast:
5	chr2:172911212..172913559-chr2:172957702..172960003,2	MCF-7	breast:
6	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
7	chr2:172909159..172912131-chr2:172917033..172919851,3	MCF-7	breast:
8	chr2:172903562..172906519-chr2:172947983..172949880,2	K562	blood:
9	chr2:172910103..172911798-chr2:172947544..172950259,2	MCF-7	breast:
10	chr2:172897089..172900010-chr2:172909839..172912586,2	K562	blood:
11	chr2:172904276..172906441-chr2:172912588..172915159,2	K562	blood:
12	chr2:172909513..172911907-chr2:172948039..172950967,2	MCF-7	breast:
13	chr2:172904432..172906257-chr2:172909270..172911024,2	K562	blood:
14	chr2:172906506..172908883-chr2:172947128..172949722,2	MCF-7	breast:
15	chr2:172910524..172912386-chr2:172915560..172917116,2	K562	blood:
16	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
17	chr2:172904144..172906423-chr2:172922589..172924377,2	MCF-7	breast:
18	chr2:172901732..172906441-chr2:172911766..172917938,8	K562	blood:
19	chr2:172896231..172898804-chr2:172903539..172906403,3	K562	blood:
20	chr2:172894190..172896473-chr2:172910929..172913288,2	K562	blood:
21	chr2:172908370..172912601-chr2:172912982..172915334,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144355	chromatin interactions

Extended variants
information (count: 354 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375237675	chr2:172906114-172906115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376783705	chr2:172906128-172906129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563168253	chr2:172906156-172906157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371790209	chr2:172906226-172906227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190141045	chr2:172906229-172906230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562313426	chr2:172906244-172906245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183190498	chr2:172906247-172906248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186501855	chr2:172906250-172906251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529472268	chr2:172906271-172906272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191812599	chr2:172906285-172906286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138527224	chr2:172906286-172906287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560288680	chr2:172906302-172906303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527326543	chr2:172906306-172906307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs34672610	chr2:172906318-172906319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552213662	chr2:172906356-172906357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78950846	chr2:172906370-172906371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374799516	chr2:172906371-172906372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74647013	chr2:172906385-172906386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183627905	chr2:172906390-172906391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187550273	chr2:172906431-172906432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192540425	chr2:172906437-172906438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141679213	chr2:172906447-172906448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568280966	chr2:172906481-172906482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79566964	chr2:172906482-172906483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144486551	chr2:172906513-172906514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148357409	chr2:172906529-172906530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199557221	chr2:172906638-172906639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374556567	chr2:172906645-172906646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368549764	chr2:172906653-172906654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201300486	chr2:172906657-172906658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs199777185	chr2:172906659-172906660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200821659	chr2:172906660-172906661	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371484938	chr2:172906661-172906662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571543320	chr2:172906673-172906674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs67708838	chr2:172906677-172906678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201757401	chr2:172906724-172906725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141532184	chr2:172906745-172906746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112892047	chr2:172906814-172906815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12470411	chr2:172906818-172906819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111693029	chr2:172906935-172906936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545516380	chr2:172906961-172906962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539505716	chr2:172907004-172907005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558134996	chr2:172907008-172907009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79029608	chr2:172907025-172907026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199500469	chr2:172907031-172907032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112569881	chr2:172907039-172907040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182087899	chr2:172907071-172907072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140200198	chr2:172907073-172907074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs199956496	chr2:172907077-172907078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200549158	chr2:172907080-172907081	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:20 , 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

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