Variant report

Variant	nsv587978
Chromosome Location	chr21:47712434-47714434
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	chr21:47713129..47716016-chr21:47743936..47746881,5	MCF-7	breast:
3	chr21:47712217..47713877-chr21:47743379..47745476,2	MCF-7	breast:
4	chr21:47705283..47707993-chr21:47713694..47717938,5	MCF-7	breast:
5	chr21:47705312..47710550-chr21:47711386..47716259,4	K562	blood:
6	chr21:47695579..47697188-chr21:47713900..47716404,2	MCF-7	breast:
7	chr21:47713705..47716420-chr21:47738596..47740217,2	MCF-7	breast:
8	chr21:47714401..47714998-chr21:47744184..47744759,2	MCF-7	breast:
9	chr21:47713494..47715322-chr21:47788049..47790112,2	K562	blood:
10	chr21:47713822..47715879-chr21:47788612..47790511,2	K562	blood:
11	chr21:47706415..47708286-chr21:47708333..47712836,4	K562	blood:
12	chr21:47703549..47712907-chr21:47732716..47739888,14	MCF-7	breast:
13	chr21:47714423..47717463-chr21:47743785..47745906,3	MCF-7	breast:
14	chr21:47709790..47713110-chr21:47741267..47744584,4	MCF-7	breast:
15	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
16	chr21:47713574..47717141-chr21:47740930..47745749,7	K562	blood:
17	chr21:47704395..47708420-chr21:47713514..47717582,8	K562	blood:

(count:3 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 170 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28555547	chr21:47712434-47712435	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs554206336	chr21:47712435-47712436	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs182536583	chr21:47712441-47712442	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs187009504	chr21:47712448-47712449	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs116827558	chr21:47712454-47712455	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
6	rs9983717	chr21:47712460-47712461	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
7	rs199702380	chr21:47712462-47712463	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs697806	chr21:47712470-47712471	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs111428770	chr21:47712478-47712479	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs111686392	chr21:47712497-47712498	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs144418600	chr21:47712500-47712501	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs148791876	chr21:47712501-47712502	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs4819228	chr21:47712505-47712506	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs3175286	chr21:47712516-47712517	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs367724939	chr21:47712522-47712523	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs371286312	chr21:47712528-47712529	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs697804	chr21:47712534-47712535	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs697805	chr21:47712536-47712537	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs4819232	chr21:47712544-47712545	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs71191666	chr21:47712552-47712553	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs71319737	chr21:47712575-47712576	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs77891381	chr21:47712590-47712591	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs373469257	chr21:47712602-47712603	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs57619338	chr21:47712608-47712609	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs57900452	chr21:47712610-47712611	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs1061071	chr21:47712612-47712613	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs200465128	chr21:47712618-47712619	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs9983893	chr21:47712626-47712627	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs562718768	chr21:47712640-47712641	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs370631028	chr21:47712653-47712654	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs71326305	chr21:47712664-47712665	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs79222549	chr21:47712670-47712671	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs1061068	chr21:47712672-47712673	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs1061069	chr21:47712674-47712675	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs1061070	chr21:47712676-47712677	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs74550875	chr21:47712682-47712683	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs79470257	chr21:47712684-47712685	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs71326303	chr21:47712692-47712693	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs696327	chr21:47712700-47712701	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs1061050	chr21:47712738-47712739	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs75569531	chr21:47712756-47712757	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs74923588	chr21:47712758-47712759	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs708377	chr21:47712766-47712767	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs74213917	chr21:47712795-47712796	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs371766541	chr21:47712812-47712813	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs193009178	chr21:47712824-47712825	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs529808006	chr21:47712828-47712829	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs369582993	chr21:47712830-47712831	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs371847369	chr21:47712832-47712833	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs71319922	chr21:47712840-47712841	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:146 , 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	chr21:47711000-47712600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:47711000-47712600	Strong transcription	Fetal Muscle Leg	muscle
19	chr21:47711200-47712600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:47711200-47712600	Strong transcription	Colon Smooth Muscle	Colon
21	chr21:47711200-47712600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr21:47711400-47712600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr21:47711600-47712600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:47711600-47714800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:47711600-47714800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr21:47711600-47717400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr21:47711600-47717400	Weak transcription	NHEK	skin
28	chr21:47711800-47714400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr21:47711800-47717400	Weak transcription	HUVEC	blood vessel
30	chr21:47712000-47714600	Weak transcription	HSMM	muscle
31	chr21:47712000-47715000	Weak transcription	Colonic Mucosa	Colon
32	chr21:47712000-47715000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:47712000-47717200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr21:47712000-47719200	Weak transcription	A549	lung
35	chr21:47712200-47712600	ZNF genes & repeats	Fetal Stomach	stomach
36	chr21:47712200-47713600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr21:47712200-47714600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr21:47712200-47714600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr21:47712200-47714600	Weak transcription	NH-A	brain
40	chr21:47712200-47714800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr21:47712200-47714800	Weak transcription	HSMMtube	muscle
42	chr21:47712200-47714800	Weak transcription	NHDF-Ad	bronchial
43	chr21:47712200-47715000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr21:47712200-47717200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr21:47712200-47717200	Weak transcription	Primary T cells from cord blood	blood
46	chr21:47712200-47717400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr21:47712200-47717400	Weak transcription	Brain Hippocampus Middle	brain
48	chr21:47712200-47717400	Weak transcription	HMEC	breast
49	chr21:47712200-47717600	Weak transcription	Aorta	Aorta
50	chr21:47712200-47717600	Weak transcription	Fetal Kidney	kidney

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