Variant report

Variant	nsv1058663
Chromosome Location	chr21:40009959-40031681
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:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:40024195..40027388-chr21:40030048..40033604,4	MCF-7	breast:
2	chr21:40021665..40023567-chr21:40158455..40160815,2	K562	blood:
3	chr21:40014328..40017749-chr21:40031360..40034967,3	MCF-7	breast:
4	chr21:40030626..40032570-chr21:40036833..40038338,2	K562	blood:
5	chr21:40014305..40016339-chr21:40035627..40038289,2	MCF-7	breast:
6	chr21:40028175..40030342-chr21:40031960..40033775,2	K562	blood:
7	chr21:40006499..40008943-chr21:40009530..40012188,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETS2-6	chr21:40022929-40023481	NONHSAT082115
2	lnc-ETS2-6	chr21:40023301-40024477	NONHSAT082114
3	lnc-ETS2-6	chr21:40021643-40021789	NONHSAT082115
4	lnc-ETS2-6	chr21:40021552-40021789	NONHSAT082114
5	lnc-ETS2-6	chr21:40022930-40023056	NONHSAT082114

No data

Variant related genes	Relation type
ENSG00000157554	chromatin interactions

Extended variants
information (count: 842 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:842 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548508878	chr21:40009997-40009998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568607197	chr21:40010009-40010010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145420473	chr21:40010045-40010046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557666973	chr21:40010059-40010060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577345538	chr21:40010067-40010068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147622103	chr21:40010068-40010069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73902703	chr21:40010123-40010124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376945081	chr21:40010199-40010200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548624492	chr21:40010211-40010212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529991747	chr21:40010221-40010222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140489324	chr21:40010258-40010259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542220488	chr21:40010281-40010282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574544872	chr21:40010283-40010284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187793910	chr21:40010322-40010323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563223279	chr21:40010389-40010390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532018705	chr21:40010423-40010424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551761661	chr21:40010452-40010453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558885038	chr21:40010499-40010500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs463780	chr21:40010505-40010506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548242536	chr21:40010547-40010548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192183170	chr21:40010578-40010579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182931454	chr21:40010580-40010581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144560421	chr21:40010599-40010600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188581100	chr21:40010613-40010614	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145622074	chr21:40010639-40010640	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs193261797	chr21:40010764-40010765	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2836580	chr21:40010784-40010785	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535595876	chr21:40010805-40010806	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs184296800	chr21:40010825-40010826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2836581	chr21:40010829-40010830	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539248501	chr21:40010903-40010904	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs148890879	chr21:40010931-40010932	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556694344	chr21:40010943-40010944	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs73217997	chr21:40010946-40010947	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189119945	chr21:40010974-40010975	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74351908	chr21:40010995-40010996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs543147425	chr21:40011043-40011044	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs79603274	chr21:40011084-40011085	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs555097933	chr21:40011097-40011098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528067504	chr21:40011133-40011134	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563781297	chr21:40011194-40011195	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370628181	chr21:40011218-40011219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs561814210	chr21:40011252-40011253	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs57735416	chr21:40011291-40011292	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs377111198	chr21:40011300-40011301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs75709675	chr21:40011301-40011302	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs78858975	chr21:40011302-40011303	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs77363024	chr21:40011303-40011304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs199692506	chr21:40011329-40011330	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs191588759	chr21:40011338-40011339	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	21364760	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
Acute myeloid leukemia	17237825	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Prostate cancer	20562851	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40003800-40014400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr21:40008200-40010000	Enhancers	HMEC	breast
3	chr21:40008400-40010000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:40008400-40010400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:40008800-40010400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:40008800-40010800	Weak transcription	Aorta	Aorta
7	chr21:40008800-40011600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr21:40009200-40014600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr21:40009800-40010400	Enhancers	Esophagus	oesophagus
10	chr21:40010400-40010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:40010400-40011400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:40010400-40011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:40010600-40011600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr21:40010600-40012200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:40010600-40015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:40010800-40011400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr21:40010800-40012200	Enhancers	Aorta	Aorta
18	chr21:40011000-40011600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr21:40011400-40011600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:40011400-40011600	Active TSS	Primary hematopoietic stem cells	blood
21	chr21:40011400-40011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:40011400-40011600	Active TSS	HMEC	breast
23	chr21:40011400-40011600	Bivalent/Poised TSS	NHDF-Ad	bronchial
24	chr21:40011400-40011800	Active TSS	Osteobl	bone
25	chr21:40011400-40012000	Enhancers	Primary B cells from peripheral blood	blood
26	chr21:40011400-40012000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:40011400-40012000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr21:40011600-40011800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:40011600-40011800	Active TSS	NHDF-Ad	bronchial
30	chr21:40011600-40012000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:40011600-40012000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr21:40011600-40012000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr21:40011600-40012000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr21:40011600-40012000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr21:40011600-40012000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:40011600-40012000	Enhancers	Fetal Thymus	thymus
37	chr21:40011600-40012000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr21:40011600-40012000	Flanking Active TSS	HMEC	breast
39	chr21:40011800-40012000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr21:40011800-40012000	Bivalent Enhancer	HSMM	muscle
41	chr21:40011800-40012000	Flanking Active TSS	Osteobl	bone
42	chr21:40012000-40012400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:40012000-40012400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr21:40012000-40013000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr21:40012000-40013000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr21:40012000-40014400	Weak transcription	Fetal Thymus	thymus
47	chr21:40012000-40016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr21:40012200-40012400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr21:40012200-40012400	Weak transcription	Aorta	Aorta
50	chr21:40012400-40013400	Enhancers	Aorta	Aorta

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