Variant report

Variant	nsv527539
Chromosome Location	chr2:149283070-149330251
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:149294626..149297219-chr2:149297327..149299085,2	K562	blood:
2	chr2:149281538..149284330-chr2:149286609..149289120,3	K562	blood:
3	chr2:149294992..149296635-chr2:149307311..149309386,2	K562	blood:
4	chr2:149291312..149293367-chr2:149296532..149298461,2	K562	blood:
5	chr2:149294626..149297219-chr2:149297327..149299085,2	K562	blood:
6	chr2:149291312..149293367-chr2:149296532..149298461,2	K562	blood:
7	chr2:149282393..149284860-chr2:149290355..149292370,2	K562	blood:
8	chr2:149300100..149301867-chr2:149308613..149310548,2	MCF-7	breast:
9	chr2:149281731..149283651-chr2:149284269..149286431,2	K562	blood:
10	chr2:149308756..149311819-chr2:149312294..149315148,3	K562	blood:
11	chr2:149310604..149312256-chr2:149400996..149403979,2	K562	blood:
12	chr2:149319544..149321447-chr2:149323434..149324991,2	MCF-7	breast:
13	chr2:149287117..149288965-chr2:149289361..149291496,2	K562	blood:
14	chr2:149294992..149296635-chr2:149307311..149309386,2	K562	blood:
15	chr2:149282393..149284860-chr2:149290355..149292370,2	K562	blood:
16	chr2:149287117..149288965-chr2:149289361..149291496,2	K562	blood:
17	chr2:149281538..149284330-chr2:149286609..149289120,3	K562	blood:
18	chr2:149281731..149283651-chr2:149284269..149286431,2	K562	blood:
19	chr2:149277983..149279760-chr2:149282502..149284169,2	K562	blood:
20	chr2:149315092..149315904-chr2:149364871..149365412,2	MCF-7	breast:
21	chr2:149300619..149303078-chr2:149303918..149306388,2	K562	blood:
22	chr2:149308484..149310057-chr2:149401068..149402594,2	K562	blood:
23	chr2:149282589..149285549-chr2:149375360..149378026,2	MCF-7	breast:
24	chr2:148747741..148748520-chr2:149322760..149323458,2	K562	blood:
25	chr2:149300619..149303078-chr2:149303918..149306388,2	K562	blood:
26	chr2:149286910..149287910-chrX:103028804..103029356,2	MCF-7	breast:
27	chr2:149319544..149321447-chr2:149323434..149324991,2	MCF-7	breast:
28	chr2:149300100..149301867-chr2:149308613..149310548,2	MCF-7	breast:
29	chr2:149308756..149311819-chr2:149312294..149315148,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123560	chromatin interactions
ENSG00000135999	chromatin interactions

Extended variants
information (count: 1600 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1600 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs881184	chr2:149283070-149283071	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555467588	chr2:149283075-149283076	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575009285	chr2:149283081-149283082	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535648126	chr2:149283084-149283085	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184960091	chr2:149283100-149283101	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577473414	chr2:149283130-149283131	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115697412	chr2:149283132-149283133	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527298004	chr2:149283137-149283138	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367673645	chr2:149283150-149283151	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371133407	chr2:149283236-149283237	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145083515	chr2:149283243-149283244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs57106069	chr2:149283352-149283353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543546746	chr2:149283361-149283362	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs562020108	chr2:149283369-149283370	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs13383888	chr2:149283444-149283445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13384002	chr2:149283535-149283536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs935385	chr2:149283561-149283562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377277632	chr2:149283565-149283566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549936673	chr2:149283597-149283598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16828742	chr2:149283611-149283612	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533078632	chr2:149283676-149283677	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189808038	chr2:149283724-149283725	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1108568	chr2:149283771-149283772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537026531	chr2:149283951-149283952	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs74666143	chr2:149283954-149283955	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551602218	chr2:149284000-149284001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567244413	chr2:149284019-149284020	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs139027138	chr2:149284036-149284037	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs1108567	chr2:149284068-149284069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs572573481	chr2:149284101-149284102	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs191556966	chr2:149284115-149284116	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs183700895	chr2:149284116-149284117	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs55933306	chr2:149284131-149284132	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543409490	chr2:149284185-149284186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189543600	chr2:149284195-149284196	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs574060124	chr2:149284220-149284221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541466486	chr2:149284300-149284301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559304880	chr2:149284301-149284302	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs142210910	chr2:149284358-149284359	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181815203	chr2:149284401-149284402	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs563550437	chr2:149284440-149284441	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs6756002	chr2:149284523-149284524	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145881628	chr2:149284600-149284601	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs556695088	chr2:149284622-149284623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs1446554	chr2:149284724-149284725	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs77606845	chr2:149284736-149284737	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372060216	chr2:149284745-149284746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs148093826	chr2:149284760-149284761	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs371918544	chr2:149284796-149284797	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs141837700	chr2:149284829-149284830	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
2	chr2:149248800-149284600	Weak transcription	Lung	lung
3	chr2:149267000-149286200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:149267200-149285400	Weak transcription	GM12878-XiMat	blood
5	chr2:149267200-149285600	Weak transcription	HSMMtube	muscle
6	chr2:149267400-149285200	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:149267400-149288400	Weak transcription	Fetal Brain Female	brain
8	chr2:149267400-149288800	Weak transcription	Right Ventricle	heart
9	chr2:149267600-149284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:149267600-149284800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:149267600-149285200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:149270600-149288400	Weak transcription	Fetal Heart	heart
13	chr2:149272400-149288800	Weak transcription	Left Ventricle	heart
14	chr2:149272600-149287600	Weak transcription	Pancreas	Pancrea
15	chr2:149273000-149286600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:149277200-149287000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:149278000-149284400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:149278200-149285000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:149278400-149283200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:149278400-149284400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:149278600-149284200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:149278800-149285200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:149280200-149287200	Enhancers	Thymus	Thymus
24	chr2:149281000-149288000	Enhancers	Fetal Thymus	thymus
25	chr2:149281400-149284000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:149281400-149292200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:149281400-149296400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:149282000-149284400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:149282400-149283200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr2:149282600-149283400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:149282600-149285000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:149282600-149285200	Weak transcription	Dnd41	blood
33	chr2:149282800-149283800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:149282800-149284200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:149282800-149284600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:149282800-149284800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:149282800-149285000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:149283000-149283200	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr2:149283000-149283200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr2:149283000-149283200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr2:149283000-149288800	Weak transcription	Right Atrium	heart
42	chr2:149283200-149283400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:149283200-149283600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr2:149283200-149283800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr2:149283200-149284000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr2:149283200-149284200	Enhancers	Primary T cells from cord blood	blood
47	chr2:149283400-149284400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:149283400-149285200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:149283600-149284400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr2:149283800-149284600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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