Variant report

Variant	nsv587951
Chromosome Location	chr21:47548011-47550595
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47545773..47548118-chr21:47549714..47552421,3	MCF-7	breast:
2	chr21:47544449..47547894-chr21:47549368..47551933,4	K562	blood:
3	chr21:47545773..47548118-chr21:47549714..47552421,3	MCF-7	breast:
4	chr21:47547743..47554326-chr21:47559264..47565052,9	K562	blood:
5	chr21:47520309..47523211-chr21:47546130..47548721,2	K562	blood:
6	chr21:47542756..47544736-chr21:47549533..47552490,2	K562	blood:
7	chr21:47541683..47544429-chr21:47545016..47549303,6	MCF-7	breast:
8	chr21:47537967..47540415-chr21:47549344..47551448,2	MCF-7	breast:
9	chr21:47528742..47530746-chr21:47548345..47549950,2	K562	blood:
10	chr21:47539891..47541656-chr21:47545952..47548915,2	MCF-7	breast:
11	chr21:47547417..47550838-chr21:47552668..47556844,4	K562	blood:
12	chr21:47546573..47548982-chr21:47703527..47706476,2	K562	blood:
13	chr21:47541436..47543362-chr21:47547811..47549445,2	K562	blood:
14	chr21:47542773..47546170-chr21:47547132..47548940,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160282	chromatin interactions
ENSG00000142173	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000182362	chromatin interactions

Extended variants
information (count: 267 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12626746	chr21:47548011-47548012	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574461948	chr21:47548037-47548038	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs542130890	chr21:47548038-47548039	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs368645226	chr21:47548040-47548041	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs187398487	chr21:47548067-47548068	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs113406768	chr21:47548096-47548097	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs527881062	chr21:47548111-47548112	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs113049815	chr21:47548119-47548120	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs372148019	chr21:47548120-47548121	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs149270353	chr21:47548134-47548135	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs116133406	chr21:47548152-47548153	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs549879900	chr21:47548176-47548177	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs112248783	chr21:47548194-47548195	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs528853486	chr21:47548196-47548197	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs34902914	chr21:47548197-47548198	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs547719272	chr21:47548209-47548210	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs555304001	chr21:47548213-47548214	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs566013074	chr21:47548228-47548229	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs539345495	chr21:47548231-47548232	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs116892821	chr21:47548243-47548244	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs148023446	chr21:47548248-47548249	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs141795741	chr21:47548262-47548263	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs568627975	chr21:47548275-47548276	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs546796383	chr21:47548279-47548280	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs146022369	chr21:47548328-47548329	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs537690319	chr21:47548337-47548338	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs368008271	chr21:47548340-47548341	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs531862966	chr21:47548345-47548346	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs7280485	chr21:47548347-47548348	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs115673993	chr21:47548391-47548392	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs79010378	chr21:47548397-47548398	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs150510142	chr21:47548398-47548399	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs66935068	chr21:47548399-47548400	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs113205750	chr21:47548404-47548405	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs386394886	chr21:47548405-47548406	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs546162908	chr21:47548410-47548411	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs57206396	chr21:47548415-47548416	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs564730996	chr21:47548436-47548437	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs557155359	chr21:47548476-47548477	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs143607256	chr21:47548483-47548484	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs6518273	chr21:47548490-47548491	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs114207511	chr21:47548525-47548526	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs528995969	chr21:47548543-47548544	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs547459607	chr21:47548551-47548552	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs2839116	chr21:47548555-47548556	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs533287921	chr21:47548574-47548575	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs79900420	chr21:47548587-47548588	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs141987176	chr21:47548605-47548606	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs9977572	chr21:47548609-47548610	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146299954	chr21:47548635-47548636	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47530800-47563600	Weak transcription	Right Atrium	heart
2	chr21:47531000-47548800	Strong transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:47531800-47549400	Strong transcription	Aorta	Aorta
4	chr21:47531800-47549600	Strong transcription	Colon Smooth Muscle	Colon
5	chr21:47531800-47550000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
6	chr21:47532000-47549400	Strong transcription	Colonic Mucosa	Colon
7	chr21:47535000-47554800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr21:47535200-47548200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr21:47535200-47548200	Weak transcription	Brain Germinal Matrix	brain
10	chr21:47535200-47549400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr21:47535200-47549600	Strong transcription	Adipose Nuclei	Adipose
12	chr21:47535200-47551000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:47535200-47552000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr21:47535200-47552000	Strong transcription	NHLF	lung
15	chr21:47535200-47552400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:47535200-47552800	Strong transcription	Fetal Muscle Leg	muscle
17	chr21:47535600-47549200	Weak transcription	Fetal Brain Female	brain
18	chr21:47535600-47551000	Strong transcription	Fetal Intestine Small	intestine
19	chr21:47538200-47563600	Weak transcription	Brain Anterior Caudate	brain
20	chr21:47539200-47549800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr21:47539200-47550400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr21:47540200-47548200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:47541600-47548200	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr21:47542400-47552000	Weak transcription	HSMM	muscle
25	chr21:47542600-47551200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:47542600-47551400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:47542600-47552400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:47542800-47550200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr21:47542800-47550600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:47542800-47552400	Strong transcription	NHDF-Ad	bronchial
31	chr21:47543600-47553800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:47544000-47548600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:47544000-47553400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:47544200-47553800	Strong transcription	Osteobl	bone
35	chr21:47544400-47548400	Genic enhancers	Placenta	Placenta
36	chr21:47544400-47550000	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr21:47544600-47549600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr21:47544800-47549200	Strong transcription	Lung	lung
39	chr21:47545000-47549000	Strong transcription	Spleen	Spleen
40	chr21:47545000-47556200	Weak transcription	HSMMtube	muscle
41	chr21:47546000-47550800	Enhancers	Fetal Heart	heart
42	chr21:47546200-47556200	Weak transcription	Fetal Lung	lung
43	chr21:47546400-47551400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr21:47546400-47552000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr21:47546800-47548600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr21:47546800-47552000	Weak transcription	Esophagus	oesophagus
47	chr21:47547000-47548800	Genic enhancers	Stomach Smooth Muscle	stomach
48	chr21:47547000-47549000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:47547200-47549800	Genic enhancers	Right Ventricle	heart
50	chr21:47547400-47548200	Weak transcription	H1 Cell Line	embryonic stem cell

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