Variant report

Variant	nsv526768
Chromosome Location	chr21:47986001-47987547
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47977884..47980372-chr21:47985950..47987706,2	K562	blood:
2	chr21:47877021..47880570-chr21:47984512..47987705,4	K562	blood:
3	chr21:47986038..47989683-chr21:48053926..48057221,4	MCF-7	breast:
4	chr21:47971877..47975830-chr21:47983188..47986029,3	K562	blood:
5	chr21:47980561..47982874-chr21:47984744..47986654,2	MCF-7	breast:
6	chr21:47984970..47986522-chr21:48008602..48011495,2	K562	blood:
7	chr21:47986444..47988898-chr21:48015731..48017367,2	K562	blood:
8	chr21:47982466..47985451-chr21:47987034..47988568,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160310	chromatin interactions
ENSG00000160305	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2277827	chr21:47986001-47986002	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377601330	chr21:47986040-47986041	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570444987	chr21:47986050-47986051	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189786617	chr21:47986054-47986055	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs2839333	chr21:47986068-47986069	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs8133340	chr21:47986083-47986084	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543310564	chr21:47986109-47986110	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554951385	chr21:47986110-47986111	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573526173	chr21:47986114-47986115	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540254590	chr21:47986116-47986117	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs117521527	chr21:47986131-47986132	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532421038	chr21:47986148-47986149	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376402726	chr21:47986168-47986169	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs16979410	chr21:47986182-47986183	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs369500297	chr21:47986210-47986211	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs150097903	chr21:47986248-47986249	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2839334	chr21:47986269-47986270	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs2839335	chr21:47986283-47986284	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs138381902	chr21:47986316-47986317	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs34998575	chr21:47986375-47986376	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551846932	chr21:47986413-47986414	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570431657	chr21:47986421-47986422	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372870634	chr21:47986423-47986424	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs373693484	chr21:47986449-47986450	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377064083	chr21:47986476-47986477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537914823	chr21:47986481-47986482	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200244740	chr21:47986496-47986497	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374435400	chr21:47986550-47986551	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368500330	chr21:47986571-47986572	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs372263689	chr21:47986608-47986609	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375322513	chr21:47986617-47986618	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs367918341	chr21:47986618-47986619	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs371782389	chr21:47986624-47986625	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs3819044	chr21:47986633-47986634	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555183185	chr21:47986669-47986670	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs9975723	chr21:47986670-47986671	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs9976401	chr21:47986697-47986698	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35945564	chr21:47986758-47986759	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9975751	chr21:47986759-47986760	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs9976818	chr21:47986766-47986767	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs2839336	chr21:47986811-47986812	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs562978467	chr21:47986825-47986826	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs113281173	chr21:47986854-47986855	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs9976848	chr21:47986859-47986860	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs527546815	chr21:47986873-47986874	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs111245099	chr21:47986875-47986876	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs563893728	chr21:47986913-47986914	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs531320803	chr21:47986983-47986984	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs2839337	chr21:47987167-47987168	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs568149756	chr21:47987183-47987184	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 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:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47943600-47990600	Strong transcription	Fetal Stomach	stomach
2	chr21:47947600-47989000	Strong transcription	Dnd41	blood
3	chr21:47947600-47991000	Strong transcription	Fetal Muscle Leg	muscle
4	chr21:47948400-47993600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:47948600-47993200	Strong transcription	Fetal Intestine Large	intestine
6	chr21:47949000-47988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:47949000-47993600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:47949800-47991800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:47950000-47989200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr21:47950000-47991000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr21:47950200-47993200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr21:47953000-47988200	Strong transcription	Gastric	stomach
13	chr21:47953000-47988600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:47953200-47988400	Strong transcription	Fetal Intestine Small	intestine
15	chr21:47953200-47993000	Strong transcription	Osteobl	bone
16	chr21:47953400-47988000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr21:47956200-48001800	Weak transcription	Stomach Mucosa	stomach
18	chr21:47961600-47992800	Strong transcription	Brain Hippocampus Middle	brain
19	chr21:47964600-47988400	Strong transcription	Brain Germinal Matrix	brain
20	chr21:47965200-47991200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr21:47965800-47988600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:47965800-47993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:47966200-47993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:47966400-47987800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr21:47966600-47988200	Strong transcription	Esophagus	oesophagus
26	chr21:47967400-47994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr21:47968600-47990800	Strong transcription	Fetal Brain Female	brain
28	chr21:47969400-47987600	Strong transcription	Aorta	Aorta
29	chr21:47969600-47988200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr21:47969600-47988400	Strong transcription	Colonic Mucosa	Colon
31	chr21:47969800-47989200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr21:47970200-47992400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:47970400-47988200	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr21:47970400-47993200	Strong transcription	Brain Cingulate Gyrus	brain
35	chr21:47971000-47989200	Strong transcription	Placenta	Placenta
36	chr21:47971600-47991600	Strong transcription	Brain Substantia Nigra	brain
37	chr21:47972000-47988800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:47973200-47993000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr21:47973400-47993200	Strong transcription	Rectal Smooth Muscle	rectum
40	chr21:47973600-47989600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:47973600-47990600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr21:47973600-47991600	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr21:47973600-47992600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr21:47973800-47990600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr21:47974200-47988200	Strong transcription	NHLF	lung
46	chr21:47974200-47991200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr21:47974400-47987800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr21:47975200-47992800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:47975600-47988600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr21:47975800-47991000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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