Variant report

Variant	nsv587945
Chromosome Location	chr21:47544563-47548490
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 457 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113043626	chr21:47544563-47544564	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs111589967	chr21:47544564-47544565	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs376303610	chr21:47544566-47544567	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144334894	chr21:47544567-47544568	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564536740	chr21:47544576-47544577	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370775804	chr21:47544578-47544579	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs140097446	chr21:47544595-47544596	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs147158850	chr21:47544599-47544600	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377210303	chr21:47544603-47544604	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs370398833	chr21:47544605-47544606	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142021066	chr21:47544613-47544614	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs189470660	chr21:47544624-47544625	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374469870	chr21:47544639-47544640	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs367642263	chr21:47544660-47544661	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs529820297	chr21:47544661-47544662	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs55933135	chr21:47544662-47544663	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
17	rs138710446	chr21:47544675-47544676	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535016961	chr21:47544706-47544707	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142824904	chr21:47544707-47544708	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs377165404	chr21:47544711-47544712	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs571657527	chr21:47544717-47544718	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs9981879	chr21:47544727-47544728	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
23	rs73908536	chr21:47544729-47544730	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs373526415	chr21:47544734-47544735	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs536407853	chr21:47544742-47544743	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554654811	chr21:47544743-47544744	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs572648622	chr21:47544744-47544745	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs112970477	chr21:47544757-47544758	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs376085279	chr21:47544758-47544759	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs539930932	chr21:47544767-47544768	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs73382466	chr21:47544769-47544770	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
32	rs200398326	chr21:47544771-47544772	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs199964794	chr21:47544777-47544778	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs372408094	chr21:47544778-47544779	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs544515457	chr21:47544790-47544791	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112970651	chr21:47544796-47544797	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs377020531	chr21:47544804-47544805	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs369505580	chr21:47544820-47544821	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs371631650	chr21:47544824-47544825	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs146311719	chr21:47544825-47544826	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs139488626	chr21:47544826-47544827	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548033066	chr21:47544827-47544828	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs375966817	chr21:47544829-47544830	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs528635866	chr21:47544831-47544832	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142709940	chr21:47544833-47544834	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150999832	chr21:47544834-47544835	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	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
48	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
49	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
50	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

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:126 , 50 per page) page: 1 2 3

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	chr21:47535200-47544600	Strong transcription	Spleen	Spleen
15	chr21:47535200-47545200	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr21:47535200-47545600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:47535200-47546200	Weak transcription	Fetal Kidney	kidney
18	chr21:47535200-47546400	Strong transcription	Rectal Smooth Muscle	rectum
19	chr21:47535200-47547800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr21:47535200-47548000	Strong transcription	Fetal Stomach	stomach
21	chr21:47535200-47548200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr21:47535200-47548200	Weak transcription	Brain Germinal Matrix	brain
23	chr21:47535200-47549400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr21:47535200-47549600	Strong transcription	Adipose Nuclei	Adipose
25	chr21:47535200-47551000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:47535200-47552000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:47535200-47552000	Strong transcription	NHLF	lung
28	chr21:47535200-47552400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:47535200-47552800	Strong transcription	Fetal Muscle Leg	muscle
30	chr21:47535600-47549200	Weak transcription	Fetal Brain Female	brain
31	chr21:47535600-47551000	Strong transcription	Fetal Intestine Small	intestine
32	chr21:47535800-47547800	Strong transcription	Ovary	ovary
33	chr21:47537200-47548000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr21:47538200-47563600	Weak transcription	Brain Anterior Caudate	brain
35	chr21:47538800-47545200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr21:47539200-47549800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr21:47539200-47550400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr21:47540200-47548200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:47541600-47548200	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr21:47542000-47544800	Weak transcription	Lung	lung
41	chr21:47542000-47545000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr21:47542000-47546400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr21:47542400-47545000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr21:47542400-47552000	Weak transcription	HSMM	muscle
45	chr21:47542600-47544600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr21:47542600-47544600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:47542600-47551200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:47542600-47551400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:47542600-47552400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr21:47542800-47550200	Strong transcription	Muscle Satellite Cultured Cells	--

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