Variant report

Variant	esv4745
Chromosome Location	chr21:41521096-41522003
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:41520868..41523262-chr21:41758481..41760661,3	MCF-7	breast:
2	chr21:41510559..41522908-chr21:41685904..41699622,30	MCF-7	breast:
3	chr21:41520522..41522744-chr21:41548382..41550517,2	MCF-7	breast:
4	chr21:41521642..41524306-chr21:41752532..41754140,2	MCF-7	breast:
5	chr21:41518203..41520436-chr21:41521681..41524001,2	MCF-7	breast:
6	chr21:41513242..41523747-chr21:41704483..41713607,25	MCF-7	breast:
7	chr21:41520005..41522029-chr21:41524160..41526539,2	MCF-7	breast:
8	chr21:41507356..41527112-chr21:41751014..41762921,70	MCF-7	breast:
9	chr21:41515156..41518019-chr21:41520939..41525508,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235123	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536639716	chr21:41521109-41521110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550155070	chr21:41521112-41521113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570164049	chr21:41521121-41521122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs13049571	chr21:41521124-41521125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138070238	chr21:41521126-41521127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374649292	chr21:41521192-41521193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559210775	chr21:41521195-41521196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191392273	chr21:41521200-41521201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535034071	chr21:41521238-41521239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76909266	chr21:41521239-41521240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555236108	chr21:41521259-41521260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13049694	chr21:41521268-41521269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13049706	chr21:41521298-41521299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371693264	chr21:41521317-41521318	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574994438	chr21:41521318-41521319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543017732	chr21:41521319-41521320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200773153	chr21:41521338-41521339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201238514	chr21:41521339-41521340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374670178	chr21:41521364-41521365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs367727035	chr21:41521366-41521367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79933120	chr21:41521413-41521414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200686855	chr21:41521415-41521416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74432572	chr21:41521436-41521437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78411883	chr21:41521437-41521438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs202009636	chr21:41521464-41521465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556511656	chr21:41521469-41521470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs576548814	chr21:41521477-41521478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200143552	chr21:41521508-41521509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545482001	chr21:41521536-41521537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559151999	chr21:41521556-41521557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112696804	chr21:41521562-41521563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528288202	chr21:41521586-41521587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541797323	chr21:41521605-41521606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs562023789	chr21:41521612-41521613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530667306	chr21:41521625-41521626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550218165	chr21:41521658-41521659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570032084	chr21:41521761-41521762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13046032	chr21:41521815-41521816	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182672691	chr21:41521818-41521819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112212219	chr21:41521831-41521832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566188420	chr21:41521856-41521857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs142747817	chr21:41521859-41521860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs13046959	chr21:41521889-41521890	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs34771536	chr21:41521894-41521895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568758634	chr21:41521925-41521926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147547959	chr21:41521945-41521946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140367164	chr21:41521948-41521949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs537316746	chr21:41521959-41521960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs68079376	chr21:41521965-41521966	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs144520541	chr21:41521966-41521967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41505000-41526400	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:41510800-41525800	Weak transcription	Brain Germinal Matrix	brain
3	chr21:41513200-41523200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:41513400-41524400	Weak transcription	Fetal Brain Female	brain
5	chr21:41517200-41528800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:41518200-41522800	Weak transcription	Fetal Heart	heart
7	chr21:41519400-41523200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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