Variant report

Variant	nsv587979
Chromosome Location	chr21:47712826-47714434
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:17)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:61128057..61129672-chr21:47713579..47716107,2	MCF-7	breast:
2	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
3	chr21:47714423..47717463-chr21:47743785..47745906,3	MCF-7	breast:
4	chr21:47703549..47712907-chr21:47732716..47739888,14	MCF-7	breast:
5	chr21:47712217..47713877-chr21:47743379..47745476,2	MCF-7	breast:
6	chr21:47709790..47713110-chr21:47741267..47744584,4	MCF-7	breast:
7	chr21:47713574..47717141-chr21:47740930..47745749,7	K562	blood:
8	chr21:47706415..47708286-chr21:47708333..47712836,4	K562	blood:
9	chr21:47705283..47707993-chr21:47713694..47717938,5	MCF-7	breast:
10	chr21:47713822..47715879-chr21:47788612..47790511,2	K562	blood:
11	chr21:47704395..47708420-chr21:47713514..47717582,8	K562	blood:
12	chr21:47714401..47714998-chr21:47744184..47744759,2	MCF-7	breast:
13	chr21:47705312..47710550-chr21:47711386..47716259,4	K562	blood:
14	chr21:47713705..47716420-chr21:47738596..47740217,2	MCF-7	breast:
15	chr21:47695579..47697188-chr21:47713900..47716404,2	MCF-7	breast:
16	chr21:47713494..47715322-chr21:47788049..47790112,2	K562	blood:
17	chr21:47713129..47716016-chr21:47743936..47746881,5	MCF-7	breast:

(count:3 , 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	chr21:47712679-47713546	NONHSAT083055

No data

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

Extended variants
information (count: 124 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529808006	chr21:47712828-47712829	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs369582993	chr21:47712830-47712831	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs371847369	chr21:47712832-47712833	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs71319922	chr21:47712840-47712841	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs77441367	chr21:47712848-47712849	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs546724809	chr21:47712867-47712868	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs549500796	chr21:47712870-47712871	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs561362615	chr21:47712871-47712872	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs376050129	chr21:47712875-47712876	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs373888156	chr21:47712886-47712887	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs71319738	chr21:47712898-47712899	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs528533582	chr21:47712902-47712903	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs376338517	chr21:47712904-47712905	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs368679516	chr21:47712906-47712907	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs373802104	chr21:47712914-47712915	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs377496682	chr21:47712922-47712923	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs71319739	chr21:47712959-47712960	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs375759333	chr21:47712972-47712973	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs377310276	chr21:47712988-47712989	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs372996247	chr21:47713004-47713005	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs535688294	chr21:47713015-47713016	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs200265236	chr21:47713019-47713020	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs371212913	chr21:47713023-47713024	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs77564332	chr21:47713034-47713035	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs202236670	chr21:47713042-47713043	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs200447355	chr21:47713044-47713045	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs201545758	chr21:47713046-47713047	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs113132769	chr21:47713056-47713057	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs367727273	chr21:47713062-47713063	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs371214283	chr21:47713070-47713071	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs374065136	chr21:47713107-47713108	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs62224175	chr21:47713108-47713109	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs371582404	chr21:47713120-47713121	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs375681167	chr21:47713126-47713127	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs369771685	chr21:47713128-47713129	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs372317015	chr21:47713136-47713137	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs62226490	chr21:47713144-47713145	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs368847369	chr21:47713181-47713182	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs71319925	chr21:47713202-47713203	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs373087962	chr21:47713210-47713211	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs377360819	chr21:47713218-47713219	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs71319921	chr21:47713239-47713240	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs71326306	chr21:47713256-47713257	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs546997926	chr21:47713258-47713259	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs373323390	chr21:47713284-47713285	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs571872735	chr21:47713291-47713292	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs376842037	chr21:47713292-47713293	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs370946166	chr21:47713330-47713331	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs373449549	chr21:47713358-47713359	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs377454112	chr21:47713366-47713367	Weak transcription	Chromatin interactive region lncRNA	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:137 , 50 per page) page: 1 2 3

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	chr21:47707400-47714600	Weak transcription	Stomach Mucosa	stomach
8	chr21:47707400-47715800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:47707400-47717200	Weak transcription	Psoas Muscle	Psoas
10	chr21:47707600-47715200	Weak transcription	Fetal Heart	heart
11	chr21:47708000-47714200	Weak transcription	Fetal Brain Male	brain
12	chr21:47708200-47715800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr21:47710000-47717400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr21:47710000-47727600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr21:47710200-47716000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr21:47710200-47720400	Weak transcription	Hela-S3	cervix
17	chr21:47711600-47714800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:47711600-47714800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr21:47711600-47717400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr21:47711600-47717400	Weak transcription	NHEK	skin
21	chr21:47711800-47714400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:47711800-47717400	Weak transcription	HUVEC	blood vessel
23	chr21:47712000-47714600	Weak transcription	HSMM	muscle
24	chr21:47712000-47715000	Weak transcription	Colonic Mucosa	Colon
25	chr21:47712000-47715000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr21:47712000-47717200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr21:47712000-47719200	Weak transcription	A549	lung
28	chr21:47712200-47713600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr21:47712200-47714600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr21:47712200-47714600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr21:47712200-47714600	Weak transcription	NH-A	brain
32	chr21:47712200-47714800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr21:47712200-47714800	Weak transcription	HSMMtube	muscle
34	chr21:47712200-47714800	Weak transcription	NHDF-Ad	bronchial
35	chr21:47712200-47715000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr21:47712200-47717200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr21:47712200-47717200	Weak transcription	Primary T cells from cord blood	blood
38	chr21:47712200-47717400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr21:47712200-47717400	Weak transcription	Brain Hippocampus Middle	brain
40	chr21:47712200-47717400	Weak transcription	HMEC	breast
41	chr21:47712200-47717600	Weak transcription	Aorta	Aorta
42	chr21:47712200-47717600	Weak transcription	Fetal Kidney	kidney
43	chr21:47712400-47713200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr21:47712400-47713600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr21:47712400-47713600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr21:47712400-47713600	Weak transcription	Adipose Nuclei	Adipose
47	chr21:47712400-47713600	Weak transcription	Fetal Intestine Large	intestine
48	chr21:47712400-47714200	Weak transcription	Fetal Brain Female	brain
49	chr21:47712400-47714600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:47712400-47714600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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