Variant report

Variant	esv3381108
Chromosome Location	chr21:47711424-47715722
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:4)
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	chr21:47713494..47715322-chr21:47788049..47790112,2	K562	blood:
2	chr21:47713574..47717141-chr21:47740930..47745749,7	K562	blood:
3	chr21:47714423..47717463-chr21:47743785..47745906,3	MCF-7	breast:
4	chr10:90639851..90640519-chr21:47714618..47715484,2	NB4	blood:
5	chr21:47705283..47707993-chr21:47713694..47717938,5	MCF-7	breast:
6	chr21:47714784..47717174-chr21:47723560..47726052,2	MCF-7	breast:
7	chr21:47708860..47711564-chr21:47715753..47717339,2	K562	blood:
8	chr11:61128057..61129672-chr21:47713579..47716107,2	MCF-7	breast:
9	chr21:47715271..47717864-chr21:47741446..47743716,2	MCF-7	breast:
10	chr21:47705312..47710550-chr21:47711386..47716259,4	K562	blood:
11	chr21:47704395..47708420-chr21:47713514..47717582,8	K562	blood:
12	chr21:47695579..47697188-chr21:47713900..47716404,2	MCF-7	breast:
13	chr21:47714401..47714998-chr21:47744184..47744759,2	MCF-7	breast:
14	chr21:47703549..47712907-chr21:47732716..47739888,14	MCF-7	breast:
15	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
16	chr21:47712217..47713877-chr21:47743379..47745476,2	MCF-7	breast:
17	chr21:47708141..47711504-chr21:47716399..47719423,3	K562	blood:
18	chr21:47646455..47648066-chr21:47714633..47716764,2	MCF-7	breast:
19	chr21:47713822..47715879-chr21:47788612..47790511,2	K562	blood:
20	chr21:47713129..47716016-chr21:47743936..47746881,5	MCF-7	breast:
21	chr21:47709790..47713110-chr21:47741267..47744584,4	MCF-7	breast:
22	chr21:47706415..47708286-chr21:47708333..47712836,4	K562	blood:
23	chr21:47702524..47712328-chr21:47732975..47746274,46	K562	blood:
24	chr21:47715232..47717039-chr21:47718960..47720713,2	MCF-7	breast:
25	chr21:47713705..47716420-chr21:47738596..47740217,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCNT-2	chr21:47712922-47714711	NONHSAT083056
2	lnc-PCNT-2	chr21:47712922-47713491	NONHSAT083057
3	lnc-PCNT-2	chr21:47714455-47714711	NONHSAT083057
4	lnc-PCNT-2	chr21:47712679-47713546	NONHSAT083055

No data

Variant related genes	Relation type
ENSG00000182362	chromatin interactions
ENSG00000149483	chromatin interactions
ENSG00000162144	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000138134	chromatin interactions

Extended variants
information (count: 313 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576724657	chr21:47711460-47711461	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs368108388	chr21:47711469-47711470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs534545278	chr21:47711477-47711478	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs150042906	chr21:47711525-47711526	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs368616121	chr21:47711552-47711553	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs79887423	chr21:47711573-47711574	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs372702834	chr21:47711611-47711612	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs73906996	chr21:47711648-47711649	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs16979054	chr21:47711671-47711672	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs17296821	chr21:47711692-47711693	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs537407222	chr21:47711735-47711736	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs556143204	chr21:47711756-47711757	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs118025860	chr21:47711761-47711762	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs368797345	chr21:47711781-47711782	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs181839556	chr21:47711814-47711815	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs572769144	chr21:47711869-47711870	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs560009796	chr21:47711872-47711873	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs578191412	chr21:47711899-47711900	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs386819433	chr21:47711903-47711904	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs56693387	chr21:47711904-47711905	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs530467255	chr21:47711920-47711921	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs548951064	chr21:47711945-47711946	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs60751239	chr21:47711967-47711968	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs61448213	chr21:47711984-47711985	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs546463839	chr21:47712004-47712005	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs61181882	chr21:47712012-47712013	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs187377717	chr21:47712023-47712024	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs551587785	chr21:47712038-47712039	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs534100295	chr21:47712042-47712043	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs570132325	chr21:47712054-47712055	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs111521605	chr21:47712100-47712101	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs79227677	chr21:47712110-47712111	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs555777164	chr21:47712120-47712121	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs141330731	chr21:47712131-47712132	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs535353384	chr21:47712170-47712171	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs59613587	chr21:47712171-47712172	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs550218154	chr21:47712177-47712178	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs578111372	chr21:47712183-47712184	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs4819225	chr21:47712185-47712186	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs115472896	chr21:47712194-47712195	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs575280523	chr21:47712205-47712206	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs201171074	chr21:47712236-47712237	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs560575017	chr21:47712241-47712242	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs528045815	chr21:47712263-47712264	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs540147926	chr21:47712275-47712276	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs564792456	chr21:47712317-47712318	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs369338261	chr21:47712340-47712341	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs143908416	chr21:47712341-47712342	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs570087163	chr21:47712357-47712358	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs116043066	chr21:47712363-47712364	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	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:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47707000-47715200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr21:47707000-47717400	Weak transcription	Small Intestine	intestine
3	chr21:47707200-47714800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:47707200-47715000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr21:47707200-47715800	Weak transcription	Right Atrium	heart
6	chr21:47707200-47717400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr21:47707400-47711600	Weak transcription	Fetal Lung	lung
8	chr21:47707400-47711800	Weak transcription	Placenta	Placenta
9	chr21:47707400-47714600	Weak transcription	Stomach Mucosa	stomach
10	chr21:47707400-47715800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr21:47707400-47717200	Weak transcription	Psoas Muscle	Psoas
12	chr21:47707600-47712200	Strong transcription	Fetal Stomach	stomach
13	chr21:47707600-47715200	Weak transcription	Fetal Heart	heart
14	chr21:47708000-47714200	Weak transcription	Fetal Brain Male	brain
15	chr21:47708200-47715800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr21:47709800-47711600	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr21:47709800-47712400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr21:47710000-47711600	Weak transcription	Fetal Kidney	kidney
19	chr21:47710000-47717400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr21:47710000-47727600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr21:47710200-47716000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr21:47710200-47720400	Weak transcription	Hela-S3	cervix
23	chr21:47711000-47711600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
24	chr21:47711000-47712400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:47711000-47712400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr21:47711000-47712400	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr21:47711000-47712600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr21:47711000-47712600	Strong transcription	Fetal Muscle Leg	muscle
29	chr21:47711200-47711600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr21:47711200-47711600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr21:47711200-47711600	Genic enhancers	K562	blood
32	chr21:47711200-47711600	Strong transcription	NHEK	skin
33	chr21:47711200-47711800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr21:47711200-47711800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr21:47711200-47712000	Strong transcription	Brain Germinal Matrix	brain
36	chr21:47711200-47712000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr21:47711200-47712000	Strong transcription	A549	lung
38	chr21:47711200-47712000	Strong transcription	HSMM	muscle
39	chr21:47711200-47712200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr21:47711200-47712200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr21:47711200-47712200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr21:47711200-47712200	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr21:47711200-47712200	Strong transcription	Brain Hippocampus Middle	brain
44	chr21:47711200-47712200	Strong transcription	HMEC	breast
45	chr21:47711200-47712200	Strong transcription	NH-A	brain
46	chr21:47711200-47712400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr21:47711200-47712400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:47711200-47712400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr21:47711200-47712400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr21:47711200-47712400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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