Variant report

Variant	nsv587947
Chromosome Location	chr21:47544838-47552763
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47544449..47547894-chr21:47549368..47551933,4	K562	blood:
2	chr21:47550847..47553027-chr21:47555811..47558227,2	K562	blood:
3	chr21:47539891..47541656-chr21:47545952..47548915,2	MCF-7	breast:
4	chr21:47541683..47544429-chr21:47545016..47549303,6	MCF-7	breast:
5	chr21:47541436..47543362-chr21:47547811..47549445,2	K562	blood:
6	chr21:47546573..47548982-chr21:47703527..47706476,2	K562	blood:
7	chr21:47542773..47546170-chr21:47547132..47548940,4	MCF-7	breast:
8	chr21:47545773..47548118-chr21:47549714..47552421,3	MCF-7	breast:
9	chr21:47520309..47523211-chr21:47546130..47548721,2	K562	blood:
10	chr21:47537967..47540415-chr21:47549344..47551448,2	MCF-7	breast:
11	chr21:47537552..47539666-chr21:47543729..47546397,2	MCF-7	breast:
12	chr21:47541862..47543590-chr21:47545123..47546929,2	K562	blood:
13	chr21:47547417..47550838-chr21:47552668..47556844,4	K562	blood:
14	chr21:47547743..47554326-chr21:47559264..47565052,9	K562	blood:
15	chr21:47544449..47547894-chr21:47549368..47551933,4	K562	blood:
16	chr21:47538617..47540364-chr21:47544216..47545924,2	K562	blood:
17	chr21:47517394..47519929-chr21:47546323..47547843,2	MCF-7	breast:
18	chr21:47542756..47544736-chr21:47549533..47552490,2	K562	blood:
19	chr21:47528742..47530746-chr21:47548345..47549950,2	K562	blood:
20	chr21:47552136..47555108-chr21:47567906..47569814,2	K562	blood:
21	chr21:47551026..47553790-chr21:47731962..47734784,2	K562	blood:
22	chr21:47470351..47471891-chr21:47543505..47546157,2	K562	blood:
23	chr21:47545773..47548118-chr21:47549714..47552421,3	MCF-7	breast:
24	chr21:47547417..47550838-chr21:47552668..47556844,4	K562	blood:
25	chr21:47542773..47546170-chr21:47547132..47548940,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182362	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000142173	chromatin interactions
ENSG00000227438	chromatin interactions
ENSG00000160282	chromatin interactions

Extended variants
information (count: 926 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:926 , 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	rs9981981	chr21:47544838-47544839	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538623620	chr21:47544846-47544847	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs551268270	chr21:47544848-47544849	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs372398719	chr21:47544860-47544861	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs569405852	chr21:47544873-47544874	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs544845768	chr21:47544923-47544924	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs564836138	chr21:47544924-47544925	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs193211509	chr21:47544945-47544946	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573086885	chr21:47544968-47544969	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs533670934	chr21:47544971-47544972	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558203633	chr21:47544977-47544978	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs576445168	chr21:47544999-47545000	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543820260	chr21:47545001-47545002	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370833123	chr21:47545010-47545011	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs556425419	chr21:47545015-47545016	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs574687699	chr21:47545020-47545021	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs73382469	chr21:47545021-47545022	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560421288	chr21:47545025-47545026	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527458789	chr21:47545030-47545031	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs540747052	chr21:47545043-47545044	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs565340621	chr21:47545051-47545052	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532544043	chr21:47545058-47545059	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550940159	chr21:47545060-47545061	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550748412	chr21:47545063-47545064	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569225969	chr21:47545064-47545065	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530362539	chr21:47545082-47545083	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs548451810	chr21:47545098-47545099	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566747262	chr21:47545099-47545100	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs534091065	chr21:47545117-47545118	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201625005	chr21:47545146-47545147	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs2839113	chr21:47545155-47545156	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs184405489	chr21:47545158-47545159	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200727166	chr21:47545166-47545167	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs376708282	chr21:47545167-47545168	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs139571947	chr21:47545188-47545189	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541785316	chr21:47545189-47545190	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200827806	chr21:47545194-47545195	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs149731632	chr21:47545201-47545202	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs370858447	chr21:47545206-47545207	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs199849336	chr21:47545211-47545212	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112766458	chr21:47545226-47545227	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs545974833	chr21:47545241-47545242	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs150275851	chr21:47545242-47545243	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs564270338	chr21:47545252-47545253	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs202049274	chr21:47545253-47545254	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs377080644	chr21:47545258-47545259	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs201999357	chr21:47545264-47545265	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs374687805	chr21:47545273-47545274	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs368592024	chr21:47545275-47545276	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs11702764	chr21:47545288-47545289	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	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:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47529600-47546800	Weak transcription	Small Intestine	intestine
2	chr21:47530800-47545800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr21:47530800-47563600	Weak transcription	Right Atrium	heart
4	chr21:47531000-47547800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr21:47531000-47548800	Strong transcription	Duodenum Smooth Muscle	Duodenum
6	chr21:47531800-47549400	Strong transcription	Aorta	Aorta
7	chr21:47531800-47549600	Strong transcription	Colon Smooth Muscle	Colon
8	chr21:47531800-47550000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
9	chr21:47532000-47547200	Strong transcription	Right Ventricle	heart
10	chr21:47532000-47549400	Strong transcription	Colonic Mucosa	Colon
11	chr21:47533000-47547000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr21:47535000-47546200	Strong transcription	Fetal Lung	lung
13	chr21:47535000-47554800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr21:47535200-47545200	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr21:47535200-47545600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:47535200-47546200	Weak transcription	Fetal Kidney	kidney
17	chr21:47535200-47546400	Strong transcription	Rectal Smooth Muscle	rectum
18	chr21:47535200-47547800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr21:47535200-47548000	Strong transcription	Fetal Stomach	stomach
20	chr21:47535200-47548200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr21:47535200-47548200	Weak transcription	Brain Germinal Matrix	brain
22	chr21:47535200-47549400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr21:47535200-47549600	Strong transcription	Adipose Nuclei	Adipose
24	chr21:47535200-47551000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:47535200-47552000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr21:47535200-47552000	Strong transcription	NHLF	lung
27	chr21:47535200-47552400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:47535200-47552800	Strong transcription	Fetal Muscle Leg	muscle
29	chr21:47535600-47549200	Weak transcription	Fetal Brain Female	brain
30	chr21:47535600-47551000	Strong transcription	Fetal Intestine Small	intestine
31	chr21:47535800-47547800	Strong transcription	Ovary	ovary
32	chr21:47537200-47548000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr21:47538200-47563600	Weak transcription	Brain Anterior Caudate	brain
34	chr21:47538800-47545200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr21:47539200-47549800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr21:47539200-47550400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr21:47540200-47548200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:47541600-47548200	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr21:47542000-47545000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr21:47542000-47546400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:47542400-47545000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr21:47542400-47552000	Weak transcription	HSMM	muscle
43	chr21:47542600-47551200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:47542600-47551400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:47542600-47552400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr21:47542800-47550200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr21:47542800-47550600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:47542800-47552400	Strong transcription	NHDF-Ad	bronchial
49	chr21:47543000-47546000	Weak transcription	Gastric	stomach
50	chr21:47543400-47545200	Weak transcription	Fetal Intestine Large	intestine

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