Variant report

Variant	nsv528866
Chromosome Location	chr2:58955953-58975143
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:58957924..58962385-chr2:58965001..58969543,8	K562	blood:
2	chr2:58931831..58935442-chr2:58958147..58960287,3	K562	blood:
3	chr2:58970439..58972062-chr2:58982285..58984412,2	K562	blood:
4	chr2:58955913..58957492-chr2:58983881..58985708,2	K562	blood:
5	chr2:58945242..58949329-chr2:58957340..58962879,5	K562	blood:
6	chr2:58957372..58959657-chr2:59024450..59026192,2	K562	blood:
7	chr2:58944012..58945582-chr2:58954897..58957559,2	K562	blood:
8	chr2:58961712..58964572-chr2:58972266..58973798,2	K562	blood:
9	chr2:58970175..58971703-chr2:58974690..58977052,2	K562	blood:
10	chr2:58960852..58962547-chr2:58973927..58976304,2	K562	blood:
11	chr2:58961712..58964572-chr2:58972266..58973798,2	K562	blood:
12	chr2:58970175..58971703-chr2:58974690..58977052,2	K562	blood:
13	chr2:58935718..58937483-chr2:58954738..58957227,2	K562	blood:
14	chr2:58960852..58962547-chr2:58973927..58976304,2	K562	blood:
15	chr2:58945540..58948530-chr2:58959428..58962203,2	K562	blood:
16	chr2:58968249..58969958-chr2:58980887..58983346,2	K562	blood:
17	chr2:58945888..58951187-chr2:58955969..58958921,4	K562	blood:
18	chr2:58957924..58962385-chr2:58965001..58969543,8	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCL-6	chr2:58959158-58959271	NONHSAT070865
2	lnc-FANCL-6	chr2:58955925-58956491	NONHSAT070865

No data

Extended variants
information (count: 557 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2708146	chr2:58955953-58955954	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559936759	chr2:58955957-58955958	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs527390276	chr2:58955968-58955969	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs552250118	chr2:58955985-58955986	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs563883285	chr2:58956012-58956013	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs140612796	chr2:58956054-58956055	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs549395671	chr2:58956060-58956061	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs188238905	chr2:58956073-58956074	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs1641156	chr2:58956103-58956104	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs547274083	chr2:58956201-58956202	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs565871540	chr2:58956258-58956259	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs180677332	chr2:58956265-58956266	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs558247591	chr2:58956331-58956332	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs576477952	chr2:58956335-58956336	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs537419314	chr2:58956346-58956347	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs555832442	chr2:58956348-58956349	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs574376753	chr2:58956372-58956373	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs540531964	chr2:58956398-58956399	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs560453465	chr2:58956400-58956401	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs376245523	chr2:58956427-58956428	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs541792613	chr2:58956436-58956437	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs559641604	chr2:58956466-58956467	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs371510103	chr2:58956478-58956479	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs13428870	chr2:58956557-58956558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186593129	chr2:58956619-58956620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564188988	chr2:58956624-58956625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531342308	chr2:58956648-58956649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543007259	chr2:58956656-58956657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189757594	chr2:58956713-58956714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144448980	chr2:58956743-58956744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140553800	chr2:58956756-58956757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373722802	chr2:58956757-58956758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367830753	chr2:58956758-58956759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370156609	chr2:58956759-58956760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548377685	chr2:58956796-58956797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547680138	chr2:58956823-58956824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565702700	chr2:58956825-58956826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533174318	chr2:58956844-58956845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181344132	chr2:58956943-58956944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148421137	chr2:58956970-58956971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537580818	chr2:58956988-58956989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555793801	chr2:58957005-58957006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76318887	chr2:58957030-58957031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186202118	chr2:58957087-58957088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534963546	chr2:58957095-58957096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567568501	chr2:58957108-58957109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73942822	chr2:58957128-58957129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs371932379	chr2:58957130-58957131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62142342	chr2:58957154-58957155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550219446	chr2:58957189-58957190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58948400-58960000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:58953600-58958000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:58954200-58958600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:58954600-58963200	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:58955000-58964400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:58955200-58958400	Enhancers	K562	blood
7	chr2:58958000-58959000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:58958000-58959200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:58958400-58958600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:58958400-58958600	Flanking Active TSS	K562	blood
11	chr2:58958400-58958800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:58958400-58958800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:58958600-58958800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:58958600-58958800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:58958600-58958800	Enhancers	K562	blood
16	chr2:58958600-58959000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:58958600-58959000	Enhancers	HUVEC	blood vessel
18	chr2:58958600-58959800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:58958800-58959000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:58958800-58959000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:58958800-58959000	Flanking Active TSS	K562	blood
22	chr2:58958800-58959800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:58958800-58960000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:58958800-58961400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:58959000-58959200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:58959000-58959800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:58959000-58960200	Enhancers	K562	blood
28	chr2:58959200-58959600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:58959200-58962800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:58959600-58959800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:58959800-58960200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:58959800-58960600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:58959800-58960600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:58959800-58962600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:58960000-58960400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:58960000-58960400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:58960000-58960400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:58960000-58960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:58960200-58960800	Weak transcription	K562	blood
40	chr2:58960200-58961200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:58960800-58961800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:58960800-58962200	Enhancers	Hela-S3	cervix
43	chr2:58960800-58963400	Enhancers	K562	blood
44	chr2:58961400-58962000	Enhancers	NH-A	brain
45	chr2:58961400-58962400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:58961800-58962000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:58961800-58962200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:58962200-58965400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:58962600-58963400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:58962800-58963000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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