Variant report

Variant	esv3503566
Chromosome Location	chr21:47656524-47659722
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	chr21:47657506..47660232-chr21:47695558..47697140,2	K562	blood:
2	chr21:47656174..47658800-chr21:47703539..47705837,2	K562	blood:
3	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
4	chr21:47656850..47659762-chr21:47704126..47706741,2	MCF-7	breast:
5	chr21:47659502..47662690-chr21:47662818..47666456,4	MCF-7	breast:
6	chr21:47656119..47658355-chr21:47680181..47682317,2	K562	blood:
7	chr21:47658234..47660553-chr21:47703844..47705834,2	MCF-7	breast:
8	chr21:47657327..47659705-chr21:47698553..47700313,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160294	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000215424	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376385430	chr21:47656529-47656530	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543826489	chr21:47656548-47656549	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141331242	chr21:47656549-47656550	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536013812	chr21:47656575-47656576	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553608466	chr21:47656586-47656587	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9789897	chr21:47656588-47656589	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs17176981	chr21:47656590-47656591	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545567629	chr21:47656613-47656614	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17183382	chr21:47656654-47656655	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs16979006	chr21:47656664-47656665	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2839166	chr21:47656712-47656713	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs561607165	chr21:47656731-47656732	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs17183368	chr21:47656732-47656733	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs150559459	chr21:47656744-47656745	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139533539	chr21:47656751-47656752	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372502041	chr21:47656778-47656779	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150410111	chr21:47656800-47656801	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201196911	chr21:47656814-47656815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199675529	chr21:47656821-47656822	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375511930	chr21:47656872-47656873	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372674728	chr21:47656902-47656903	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527820837	chr21:47656903-47656904	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111700696	chr21:47656938-47656939	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552693158	chr21:47656947-47656948	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs570904099	chr21:47656956-47656957	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs34087046	chr21:47657014-47657015	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs10552880	chr21:47657015-47657016	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs79513086	chr21:47657031-47657032	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs77664143	chr21:47657032-47657033	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs397867179	chr21:47657033-47657034	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184806008	chr21:47657039-47657040	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs8127105	chr21:47657085-47657086	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373606879	chr21:47657149-47657150	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs142728338	chr21:47657209-47657210	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs188353835	chr21:47657215-47657216	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs554381028	chr21:47657223-47657224	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs545177514	chr21:47657261-47657262	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs367621816	chr21:47657292-47657293	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs539568584	chr21:47657295-47657296	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs557387294	chr21:47657304-47657305	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs146093008	chr21:47657326-47657327	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs542978693	chr21:47657329-47657330	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs9976868	chr21:47657345-47657346	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs573905836	chr21:47657353-47657354	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs191256822	chr21:47657366-47657367	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs140076476	chr21:47657461-47657462	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs368377552	chr21:47657469-47657470	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs577758377	chr21:47657492-47657493	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs546329599	chr21:47657501-47657502	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs553466426	chr21:47657552-47657553	Weak transcription Strong transcription	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:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47649800-47701600	Weak transcription	Right Atrium	heart
2	chr21:47650000-47658600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:47650000-47658600	Weak transcription	Small Intestine	intestine
4	chr21:47650000-47705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr21:47650200-47667000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:47650400-47658800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:47650600-47656800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr21:47650600-47669800	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr21:47650800-47656600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:47650800-47701000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:47650800-47701400	Strong transcription	Fetal Muscle Leg	muscle
12	chr21:47650800-47701600	Strong transcription	Fetal Stomach	stomach
13	chr21:47651000-47656800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr21:47651000-47656800	Strong transcription	NHEK	skin
15	chr21:47651000-47703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:47651200-47656800	Strong transcription	A549	lung
17	chr21:47651200-47657200	Strong transcription	HMEC	breast
18	chr21:47651200-47657400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:47651200-47657400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:47651400-47656800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:47651400-47657000	Strong transcription	NH-A	brain
23	chr21:47651600-47657800	Strong transcription	Fetal Intestine Large	intestine
24	chr21:47651600-47670400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:47651600-47673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:47651600-47679000	Strong transcription	HSMM	muscle
27	chr21:47651600-47703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:47651600-47703200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr21:47651800-47656600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:47651800-47656800	Strong transcription	Primary T cells from cord blood	blood
31	chr21:47651800-47656800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr21:47651800-47657000	Strong transcription	NHDF-Ad	bronchial
33	chr21:47651800-47657200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr21:47651800-47657600	Strong transcription	Ovary	ovary
35	chr21:47651800-47657600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr21:47651800-47657800	Strong transcription	Brain Hippocampus Middle	brain
37	chr21:47651800-47657800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr21:47651800-47657800	Strong transcription	Left Ventricle	heart
39	chr21:47651800-47666800	Strong transcription	Fetal Lung	lung
40	chr21:47651800-47681000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:47651800-47701400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:47651800-47702600	Strong transcription	Osteobl	bone
43	chr21:47652000-47656600	Strong transcription	Brain Germinal Matrix	brain
44	chr21:47652000-47656800	Strong transcription	Thymus	Thymus
45	chr21:47652000-47657000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr21:47652000-47657800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr21:47652000-47668000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr21:47652000-47701000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr21:47652000-47703000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr21:47652200-47657000	Strong transcription	Dnd41	blood

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