Variant report

Variant	esv3503569
Chromosome Location	chr21:47657245-47658758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
2	chr21:47657506..47660232-chr21:47695558..47697140,2	K562	blood:
3	chr21:47658234..47660553-chr21:47703844..47705834,2	MCF-7	breast:
4	chr21:47656174..47658800-chr21:47703539..47705837,2	K562	blood:
5	chr21:47656850..47659762-chr21:47704126..47706741,2	MCF-7	breast:
6	chr21:47657327..47659705-chr21:47698553..47700313,2	K562	blood:
7	chr21:47656119..47658355-chr21:47680181..47682317,2	K562	blood:

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

Extended variants
information (count: 51 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545177514	chr21:47657261-47657262	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs367621816	chr21:47657292-47657293	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs539568584	chr21:47657295-47657296	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs557387294	chr21:47657304-47657305	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs146093008	chr21:47657326-47657327	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs542978693	chr21:47657329-47657330	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs9976868	chr21:47657345-47657346	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs573905836	chr21:47657353-47657354	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs191256822	chr21:47657366-47657367	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs140076476	chr21:47657461-47657462	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs368377552	chr21:47657469-47657470	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs577758377	chr21:47657492-47657493	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs546329599	chr21:47657501-47657502	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs553466426	chr21:47657552-47657553	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs565407790	chr21:47657557-47657558	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs201350314	chr21:47657717-47657718	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs544550684	chr21:47657743-47657744	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs564539297	chr21:47657749-47657750	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs112261315	chr21:47657784-47657785	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs112120333	chr21:47657789-47657790	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs142187355	chr21:47657842-47657843	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs144778173	chr21:47657884-47657885	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs112558674	chr21:47657885-47657886	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs377268740	chr21:47657931-47657932	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs148593702	chr21:47657938-47657939	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs142988071	chr21:47657946-47657947	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs547773430	chr21:47657975-47657976	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs151107694	chr21:47657984-47657985	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs539601286	chr21:47657992-47657993	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs139467457	chr21:47657997-47657998	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs569380790	chr21:47658101-47658102	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs77342244	chr21:47658198-47658199	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs554978114	chr21:47658309-47658310	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs563419331	chr21:47658311-47658312	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs573547733	chr21:47658315-47658316	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs534964319	chr21:47658316-47658317	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs117748403	chr21:47658331-47658332	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs566808617	chr21:47658348-47658349	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs113231694	chr21:47658404-47658405	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs184887796	chr21:47658444-47658445	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs17176974	chr21:47658448-47658449	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569143233	chr21:47658522-47658523	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs17176967	chr21:47658530-47658531	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs543926413	chr21:47658608-47658609	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs375057111	chr21:47658639-47658640	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs201138497	chr21:47658673-47658674	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs189548403	chr21:47658678-47658679	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs548081615	chr21:47658684-47658685	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs201943037	chr21:47658685-47658686	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs142050653	chr21:47658722-47658723	Strong transcription Weak 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:191 , 50 per page) page: 1 2 3 4

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	chr21:47650600-47669800	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr21:47650800-47701000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:47650800-47701400	Strong transcription	Fetal Muscle Leg	muscle
10	chr21:47650800-47701600	Strong transcription	Fetal Stomach	stomach
11	chr21:47651000-47703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:47651200-47657400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:47651200-47657400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:47651600-47657800	Strong transcription	Fetal Intestine Large	intestine
16	chr21:47651600-47670400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:47651600-47673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:47651600-47679000	Strong transcription	HSMM	muscle
19	chr21:47651600-47703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:47651600-47703200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr21:47651800-47657600	Strong transcription	Ovary	ovary
22	chr21:47651800-47657600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr21:47651800-47657800	Strong transcription	Brain Hippocampus Middle	brain
24	chr21:47651800-47657800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr21:47651800-47657800	Strong transcription	Left Ventricle	heart
26	chr21:47651800-47666800	Strong transcription	Fetal Lung	lung
27	chr21:47651800-47681000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:47651800-47701400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:47651800-47702600	Strong transcription	Osteobl	bone
30	chr21:47652000-47657800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr21:47652000-47668000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr21:47652000-47701000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr21:47652000-47703000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr21:47652200-47657600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:47652200-47701600	Strong transcription	Fetal Thymus	thymus
36	chr21:47652400-47685200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:47652400-47702000	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr21:47652800-47668200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr21:47652800-47674600	Strong transcription	Adipose Nuclei	Adipose
40	chr21:47652800-47678000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:47652800-47702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr21:47653000-47657400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr21:47653000-47701600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr21:47653200-47657400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr21:47653200-47657800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr21:47653200-47668000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr21:47653200-47696000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr21:47653200-47702000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:47653400-47686000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr21:47653600-47657800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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