Variant report

Variant	nsv932914
Chromosome Location	chr2:152408090-152425360
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152420725..152422914-chr2:152422923..152425843,3	MCF-7	breast:
2	chr2:152414320..152417036-chr2:152422973..152425873,2	K562	blood:
3	chr2:152396825..152398789-chr2:152409057..152411603,2	K562	blood:
4	chr2:152420725..152422914-chr2:152422923..152425843,3	MCF-7	breast:
5	chr2:152392901..152394420-chr2:152407078..152409911,2	K562	blood:
6	chr2:152402480..152405227-chr2:152409026..152411315,2	K562	blood:
7	chr2:152414320..152417036-chr2:152422973..152425873,2	K562	blood:
8	chr2:152420294..152421848-chr2:152423349..152426128,2	K562	blood:
9	chr2:152423732..152425326-chr2:152425773..152428506,2	K562	blood:
10	chr2:152420294..152421848-chr2:152423349..152426128,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183091	chromatin interactions

Extended variants
information (count: 704 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:704 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528620935	chr2:152408107-152408108	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139390050	chr2:152408142-152408143	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71415142	chr2:152408194-152408195	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370016228	chr2:152408213-152408214	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200350243	chr2:152408223-152408224	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147106649	chr2:152408238-152408239	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200914547	chr2:152408244-152408245	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201751179	chr2:152408245-152408246	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115142419	chr2:152408249-152408250	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201553266	chr2:152408252-152408253	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370185522	chr2:152408270-152408271	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536375355	chr2:152408271-152408272	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375307136	chr2:152408283-152408284	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565580426	chr2:152408290-152408291	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534519331	chr2:152408293-152408294	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377487468	chr2:152408296-152408297	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370742146	chr2:152408297-152408298	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144168709	chr2:152408331-152408332	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368399531	chr2:152408338-152408339	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372391684	chr2:152408356-152408357	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577874679	chr2:152408371-152408372	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537031468	chr2:152408417-152408418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561450014	chr2:152408423-152408424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557022044	chr2:152408429-152408430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184759981	chr2:152408448-152408449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542782355	chr2:152408451-152408452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559501599	chr2:152408518-152408519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573342319	chr2:152408610-152408611	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146484052	chr2:152408633-152408634	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140856614	chr2:152408666-152408667	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375386622	chr2:152408704-152408705	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368826289	chr2:152408762-152408763	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13021010	chr2:152408780-152408781	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs80354608	chr2:152408789-152408790	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530125387	chr2:152408909-152408910	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546641596	chr2:152408971-152408972	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4664056	chr2:152408973-152408974	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs374964721	chr2:152409005-152409006	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534781325	chr2:152409009-152409010	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551320985	chr2:152409031-152409032	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571494549	chr2:152409061-152409062	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369352855	chr2:152409097-152409098	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs115480336	chr2:152409099-152409100	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556985148	chr2:152409103-152409104	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs145516449	chr2:152409130-152409131	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374478409	chr2:152409162-152409163	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148814261	chr2:152409176-152409177	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371194689	chr2:152409186-152409187	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374957115	chr2:152409219-152409220	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553079055	chr2:152409221-152409222	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152343200-152422200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:152360800-152424400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:152365200-152415600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:152371400-152421000	Weak transcription	Pancreas	Pancrea
5	chr2:152381000-152410200	Weak transcription	Placenta	Placenta
6	chr2:152383200-152424000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:152385800-152426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:152389800-152412000	Strong transcription	HSMMtube	muscle
9	chr2:152392600-152414200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:152395000-152411800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr2:152395800-152411800	Strong transcription	Fetal Muscle Leg	muscle
12	chr2:152403000-152408600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:152405400-152408400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:152406000-152425800	Weak transcription	Aorta	Aorta
15	chr2:152406200-152409800	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:152406400-152408400	Weak transcription	Psoas Muscle	Psoas
17	chr2:152408000-152410600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:152408200-152408400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:152408200-152408400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:152408400-152409400	Strong transcription	Psoas Muscle	Psoas
21	chr2:152408400-152409400	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:152408400-152412600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:152408600-152409200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:152408600-152409200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:152408600-152409200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:152408600-152409400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:152409000-152409200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:152409400-152411400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:152409400-152437000	Weak transcription	Psoas Muscle	Psoas
30	chr2:152409800-152410000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:152410000-152410400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:152410200-152410600	Enhancers	Placenta	Placenta
33	chr2:152410400-152410600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:152410600-152413400	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:152411400-152413400	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:152411800-152416200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:152411800-152416200	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:152412000-152417200	Weak transcription	HSMMtube	muscle
39	chr2:152413200-152417200	Weak transcription	Fetal Heart	heart
40	chr2:152413400-152416200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:152413400-152416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:152414000-152414400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:152414200-152414600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:152414400-152414800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:152414800-152415000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:152414800-152415200	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:152416200-152417000	Enhancers	Colon Smooth Muscle	Colon
48	chr2:152416200-152417800	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:152416200-152418400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:152416200-152427400	Strong transcription	Fetal Muscle Trunk	muscle

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