Variant report

Variant	nsv1056995
Chromosome Location	chr21:47094147-47120504
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47107670..47109432-chr21:47115323..47117373,2	K562	blood:
2	chr21:47063274..47065319-chr21:47094249..47096471,3	MCF-7	breast:
3	chr21:47114787..47115586-chr21:47188260..47188763,2	MCF-7	breast:
4	chr21:47119012..47122239-chr21:47123124..47126324,3	MCF-7	breast:
5	chr21:47107670..47109432-chr21:47115323..47117373,2	K562	blood:
6	chr21:47115438..47117092-chr21:47119709..47121872,2	K562	blood:
7	chr21:47115438..47117092-chr21:47119709..47121872,2	K562	blood:
8	chr21:47114783..47115552-chr21:47240377..47241099,2	K562	blood:
9	chr21:47091444..47094145-chr21:47106221..47108799,2	MCF-7	breast:
10	chr21:47119924..47122911-chr21:47705220..47707572,2	MCF-7	breast:
11	chr21:47115061..47115661-chr21:47188214..47188760,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160294	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000183570	chromatin interactions

Extended variants
information (count: 914 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:914 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4818794	chr21:47094147-47094148	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184164168	chr21:47094149-47094150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574418032	chr21:47094171-47094172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112036689	chr21:47094172-47094173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529987910	chr21:47094242-47094243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548285667	chr21:47094268-47094269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566616383	chr21:47094269-47094270	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372050131	chr21:47094272-47094273	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527927491	chr21:47094298-47094299	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552716093	chr21:47094314-47094315	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571093765	chr21:47094388-47094389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147929658	chr21:47094492-47094493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556553653	chr21:47094535-47094536	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570266671	chr21:47094548-47094549	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75360176	chr21:47094620-47094621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568053492	chr21:47094623-47094624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77900883	chr21:47094624-47094625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77425856	chr21:47094639-47094640	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563142818	chr21:47094662-47094663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553952621	chr21:47094668-47094669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533316115	chr21:47094686-47094687	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535753687	chr21:47094688-47094689	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546052392	chr21:47094713-47094714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs77114856	chr21:47094725-47094726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141901607	chr21:47094776-47094777	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7279007	chr21:47094799-47094800	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377452367	chr21:47094802-47094803	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576126416	chr21:47094877-47094878	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567711177	chr21:47094879-47094880	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375506033	chr21:47094903-47094904	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561793126	chr21:47094968-47094969	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1556335	chr21:47094990-47094991	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576389294	chr21:47095076-47095077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs372221413	chr21:47095178-47095179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143796674	chr21:47095283-47095284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527764802	chr21:47095296-47095297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs151143812	chr21:47095299-47095300	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571048405	chr21:47095309-47095310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2838977	chr21:47095353-47095354	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs140064682	chr21:47095361-47095362	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188520751	chr21:47095492-47095493	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535493032	chr21:47095500-47095501	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553784904	chr21:47095519-47095520	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565642666	chr21:47095520-47095521	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs36110654	chr21:47095554-47095555	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368569368	chr21:47095569-47095570	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181580881	chr21:47095592-47095593	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539582225	chr21:47095597-47095598	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566914877	chr21:47095609-47095610	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs150327284	chr21:47095624-47095625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47087600-47094600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:47088600-47097000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:47088800-47098800	Weak transcription	NHDF-Ad	bronchial
4	chr21:47088800-47099400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr21:47089000-47096800	Weak transcription	Dnd41	blood
6	chr21:47089200-47095200	Weak transcription	HSMM	muscle
7	chr21:47089400-47094600	Weak transcription	Primary T cells from cord blood	blood
8	chr21:47089400-47094800	Weak transcription	Spleen	Spleen
9	chr21:47089800-47095400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:47090400-47095800	Strong transcription	Fetal Thymus	thymus
11	chr21:47090400-47098000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:47090600-47095400	Strong transcription	Thymus	Thymus
13	chr21:47091600-47094800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:47091600-47096200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr21:47092600-47095600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:47092800-47095400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:47094600-47095400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:47094600-47095600	Strong transcription	Primary T cells from cord blood	blood
19	chr21:47094800-47095200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:47094800-47095400	Strong transcription	Spleen	Spleen
21	chr21:47095200-47097200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:47095400-47095600	Genic enhancers	Thymus	Thymus
23	chr21:47095400-47096400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:47095400-47097000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:47095400-47097200	Weak transcription	Spleen	Spleen
26	chr21:47095600-47097400	Weak transcription	Thymus	Thymus
27	chr21:47095600-47099400	Weak transcription	Primary T cells from cord blood	blood
28	chr21:47095600-47104400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:47095800-47100800	Weak transcription	Fetal Thymus	thymus
30	chr21:47097000-47097400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:47097200-47097600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr21:47097400-47098000	Strong transcription	Thymus	Thymus
33	chr21:47097400-47099600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:47098000-47098200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr21:47098000-47098800	Weak transcription	Thymus	Thymus
36	chr21:47098200-47099200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:47098800-47099000	Enhancers	Thymus	Thymus
38	chr21:47100800-47101000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:47100800-47102600	Strong transcription	Fetal Thymus	thymus
40	chr21:47102600-47138400	Weak transcription	Fetal Thymus	thymus
41	chr21:47116800-47117000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr21:47116800-47117200	Enhancers	NHDF-Ad	bronchial
43	chr21:47116800-47118200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr21:47117000-47118000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:47117200-47117600	Weak transcription	NHDF-Ad	bronchial
46	chr21:47117600-47121200	Enhancers	NHDF-Ad	bronchial
47	chr21:47117800-47119600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr21:47117800-47121000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:47118000-47119200	Enhancers	HSMM	muscle
50	chr21:47118000-47119400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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