Variant report

Variant	esv3404914
Chromosome Location	chr2:145143282-145147880
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:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:60)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145141149..145143987-chr2:145159675..145161885,2	K562	blood:
2	chr2:145138472..145140469-chr2:145141608..145143836,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTDC1-9	chr2:145143042-145143557	NONHSAT074757

No data

(count:60 , 50 per page) page: 1 2

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZEB2	hsa-miR-153-3p	chr2:145146826-145146820
2	ZEB2	hsa-miR-429	chr2:145145988-145145981
3	ZEB2	hsa-miR-200b-3p	chr2:145145654-145145648
4	ZEB2	hsa-miR-429	chr2:145145649-145145669
5	ZEB2	hsa-miR-200b-3p	chr2:145145649-145145670
6	ZEB2	hsa-miR-200c-3p	chr2:145146119-145146112
7	ZEB2	hsa-miR-200a-3p	chr2:145146242-145146235
8	ZEB2	hsa-miR-200b-3p	chr2:145146204-145146197
9	ZEB2	hsa-miR-429	chr2:145146113-145146138
10	ZEB2	hsa-miR-205-5p	chr2:145146448-145146469
11	ZEB2	hsa-miR-221-3p	chr2:145146033-145146055
12	ZEB2	hsa-miR-200b-3p	chr2:145146113-145146136
13	ZEB2	hsa-miR-200a-3p	chr2:145146809-145146802
14	ZEB2	hsa-miR-429	chr2:145146119-145146112
15	ZEB2	hsa-miR-429	chr2:145146204-145146197
16	ZEB2	hsa-miR-141-3p	chr2:145146277-145146295
17	ZEB2	hsa-miR-429	chr2:145145654-145145648
18	ZEB2	hsa-miR-320a	chr2:145146496-145146517
19	ZEB2	hsa-miR-429	chr2:145146619-145146643
20	ZEB2	hsa-miR-141-3p	chr2:145146809-145146802
21	ZEB2	hsa-miR-200c-3p	chr2:145146625-145146619
22	ZEB2	hsa-miR-200c-3p	chr2:145146113-145146137
23	ZEB2	hsa-miR-141-3p	chr2:145146803-145146821
24	ZEB2	hsa-miR-200c-3p	chr2:145146556-145146578
25	ZEB2	hsa-miR-200b-3p	chr2:145146119-145146112
26	ZEB2	hsa-miR-153-3p	chr2:145146323-145146344
27	ZEB2	hsa-miR-153-3p	chr2:145146821-145146843
28	ZEB2	hsa-miR-200b-3p	chr2:145146625-145146619
29	ZEB2	hsa-miR-200b-3p	chr2:145146556-145146580
30	ZEB2	hsa-miR-205-5p	chr2:145146384-145146406
31	ZEB2	hsa-miR-200c-3p	chr2:145146204-145146197
32	ZEB2	hsa-miR-153-3p	chr2:145146328-145146322
33	ZEB2	hsa-miR-200c-3p	chr2:145146198-145146222
34	ZEB2	hsa-miR-200b-3p	chr2:145145988-145145981
35	ZEB2	hsa-miR-429	chr2:145145982-145146003
36	ZEB2	hsa-miR-200a-3p	chr2:145146236-145146261
37	ZEB2	hsa-miR-200b-3p	chr2:145146198-145146220
38	ZEB2	hsa-miR-141-3p	chr2:145146236-145146261
39	ZEB2	hsa-miR-200c-3p	chr2:145145654-145145648
40	ZEB2	hsa-miR-200a-3p	chr2:145146803-145146824
41	ZEB2	hsa-miR-200b-3p	chr2:145145982-145146003
42	ZEB2	hsa-miR-200c-3p	chr2:145146619-145146641
43	ZEB2	hsa-miR-141-3p	chr2:145145982-145146004
44	ZEB2	hsa-miR-429	chr2:145146198-145146220
45	ZEB2	hsa-miR-221-3p	chr2:145145596-145145590
46	ZEB2	hsa-miR-200b-3p	chr2:145146619-145146643
47	ZEB2	hsa-miR-138-5p	chr2:145146251-145146245
48	ZEB2	hsa-miR-221-3p	chr2:145145590-145145611
49	ZEB2	hsa-miR-200a-3p	chr2:145146277-145146295
50	ZEB2	hsa-miR-429	chr2:145146556-145146577

Extended variants
information (count: 125 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547101469	chr2:145143382-145143383	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs570639276	chr2:145143429-145143430	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs529781092	chr2:145143514-145143515	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs548784600	chr2:145143546-145143547	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs567034316	chr2:145143562-145143563	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527910234	chr2:145143566-145143567	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76729334	chr2:145143631-145143632	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571063956	chr2:145143680-145143681	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538225246	chr2:145143723-145143724	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556327734	chr2:145143754-145143755	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568496975	chr2:145143756-145143757	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568517194	chr2:145143775-145143776	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115262663	chr2:145143793-145143794	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72992138	chr2:145143832-145143833	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575307199	chr2:145143868-145143869	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572656955	chr2:145143876-145143877	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540049446	chr2:145143923-145143924	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62169201	chr2:145143934-145143935	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146767449	chr2:145143942-145143943	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544175073	chr2:145143964-145143965	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562379456	chr2:145143971-145143972	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188715186	chr2:145143979-145143980	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548228446	chr2:145144004-145144005	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541917502	chr2:145144019-145144020	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181137747	chr2:145144020-145144021	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111991965	chr2:145144070-145144071	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569944491	chr2:145144088-145144089	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139200191	chr2:145144105-145144106	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552842162	chr2:145144121-145144122	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528546849	chr2:145144284-145144285	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531937386	chr2:145144317-145144318	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550131697	chr2:145144360-145144361	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143539296	chr2:145144372-145144373	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535461597	chr2:145144402-145144403	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547448192	chr2:145144408-145144409	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73964989	chr2:145144449-145144450	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533735442	chr2:145144484-145144485	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558500049	chr2:145144486-145144487	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138683759	chr2:145144500-145144501	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566578258	chr2:145144502-145144503	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556441621	chr2:145144545-145144546	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143648355	chr2:145144612-145144613	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368524848	chr2:145144613-145144614	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186177774	chr2:145144629-145144630	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199966315	chr2:145144631-145144632	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541854384	chr2:145144656-145144657	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371207073	chr2:145144715-145144716	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189175137	chr2:145144718-145144719	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572214712	chr2:145144744-145144745	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375576732	chr2:145144815-145144816	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145131400-145143600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:145132400-145146200	Weak transcription	NH-A	brain
3	chr2:145132600-145143600	Weak transcription	Spleen	Spleen
4	chr2:145136200-145146200	Weak transcription	Osteobl	bone
5	chr2:145136400-145143400	Weak transcription	NHDF-Ad	bronchial
6	chr2:145136400-145146400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:145136400-145147000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:145137000-145143600	Weak transcription	K562	blood
9	chr2:145137800-145146200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:145137800-145146200	Weak transcription	Brain Germinal Matrix	brain
11	chr2:145137800-145146800	Weak transcription	HUVEC	blood vessel
12	chr2:145137800-145147000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:145137800-145147000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:145137800-145147200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:145138000-145145800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:145138000-145147200	Weak transcription	Aorta	Aorta
17	chr2:145138200-145146800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:145138400-145146800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:145138400-145146800	Weak transcription	Fetal Brain Female	brain
20	chr2:145138400-145146800	Weak transcription	Fetal Kidney	kidney
21	chr2:145138400-145147000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:145138400-145147200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:145138600-145143400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:145138600-145144000	Weak transcription	Fetal Stomach	stomach
25	chr2:145138600-145146200	Weak transcription	Left Ventricle	heart
26	chr2:145138600-145146200	Weak transcription	Ovary	ovary
27	chr2:145138600-145146800	Weak transcription	Brain Anterior Caudate	brain
28	chr2:145138600-145146800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:145138600-145147000	Weak transcription	Lung	lung
30	chr2:145138600-145147200	Weak transcription	Right Atrium	heart
31	chr2:145138800-145146200	Weak transcription	NHLF	lung
32	chr2:145139000-145147000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:145139600-145143600	Weak transcription	Brain Substantia Nigra	brain
34	chr2:145139600-145143800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:145139600-145155800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:145139600-145159800	Weak transcription	Small Intestine	intestine
37	chr2:145140400-145143400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:145140400-145144200	Strong transcription	Fetal Lung	lung
39	chr2:145140800-145144400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:145140800-145146200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:145140800-145189800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:145141000-145146200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:145141000-145159600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:145141200-145147800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:145141400-145145800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:145141400-145146200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:145141400-145147200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:145141400-145160000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:145141400-145173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:145141600-145143400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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