Variant report

Variant	nsv1055287
Chromosome Location	chr21:40013735-40031681
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:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

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

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

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

No data

Variant related genes	Relation type
ENSG00000157554	chromatin interactions

Extended variants
information (count: 692 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:692 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561216318	chr21:40013749-40013750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529131078	chr21:40013751-40013752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549201066	chr21:40013810-40013811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192477274	chr21:40013833-40013834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531662611	chr21:40013843-40013844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551681345	chr21:40013855-40013856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58861693	chr21:40013856-40013857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144908886	chr21:40013869-40013870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57427707	chr21:40013873-40013874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73902704	chr21:40013878-40013879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536306097	chr21:40013879-40013880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556356633	chr21:40013912-40013913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576201360	chr21:40013914-40013915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35277252	chr21:40013915-40013916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183386088	chr21:40013949-40013950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545320921	chr21:40014041-40014042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140786349	chr21:40014093-40014094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187312028	chr21:40014139-40014140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541060692	chr21:40014146-40014147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372902674	chr21:40014173-40014174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534600303	chr21:40014176-40014177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191974538	chr21:40014201-40014202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368627442	chr21:40014276-40014277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543872875	chr21:40014295-40014296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78464746	chr21:40014307-40014308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185297494	chr21:40014309-40014310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189414208	chr21:40014320-40014321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6147506	chr21:40014392-40014393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11272699	chr21:40014393-40014394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144718604	chr21:40014411-40014412	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192994895	chr21:40014421-40014422	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551743025	chr21:40014429-40014430	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs463269	chr21:40014437-40014438	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs527534036	chr21:40014446-40014447	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572451407	chr21:40014470-40014471	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547088081	chr21:40014471-40014472	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146695746	chr21:40014514-40014515	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184345182	chr21:40014524-40014525	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189580652	chr21:40014653-40014654	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569948932	chr21:40014706-40014707	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538838046	chr21:40014715-40014716	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74667889	chr21:40014824-40014825	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200686135	chr21:40014836-40014837	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78382713	chr21:40014941-40014942	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535280260	chr21:40014942-40014943	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111720733	chr21:40015102-40015103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181887466	chr21:40015116-40015117	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs148343488	chr21:40015167-40015168	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs61189207	chr21:40015171-40015172	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576354814	chr21:40015172-40015173	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40003800-40014400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr21:40009200-40014600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr21:40010600-40015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:40012000-40014400	Weak transcription	Fetal Thymus	thymus
5	chr21:40012000-40016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:40012400-40015600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:40012800-40016800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:40013000-40014400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:40013400-40014600	Weak transcription	Aorta	Aorta
10	chr21:40013600-40014800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:40014400-40014600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr21:40014400-40014600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr21:40014400-40016200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr21:40014400-40016200	Enhancers	Fetal Thymus	thymus
15	chr21:40014600-40014800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:40014600-40015000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr21:40014600-40016000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr21:40014600-40016000	Enhancers	Aorta	Aorta
19	chr21:40014600-40016200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr21:40014600-40016200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr21:40014600-40016400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:40014800-40015000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr21:40014800-40015000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr21:40014800-40015400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr21:40014800-40016200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr21:40015000-40015200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr21:40015000-40015200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr21:40015000-40016000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr21:40015000-40016200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr21:40015200-40015400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr21:40015200-40015400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr21:40015200-40015400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr21:40015200-40015600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr21:40015200-40015600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr21:40015200-40016000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr21:40015200-40016200	Enhancers	Thymus	Thymus
37	chr21:40015400-40015600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr21:40015400-40015800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr21:40015600-40016000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr21:40015600-40016000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:40015600-40016200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:40015600-40017400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr21:40015800-40016000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr21:40016000-40016200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr21:40016000-40017200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr21:40016000-40017400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr21:40016000-40018200	Weak transcription	Aorta	Aorta
48	chr21:40016000-40018800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr21:40016000-40027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:40016200-40017600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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