Variant report

Variant	esv3446101
Chromosome Location	chr21:47815716-47816068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47812895..47815892-chr21:47877586..47879919,3	MCF-7	breast:
2	chr21:47796194..47797947-chr21:47813489..47815942,2	K562	blood:

Variant related genes	Relation type
ENSG00000160305	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562655157	chr21:47815723-47815724	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372657300	chr21:47815735-47815736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375573814	chr21:47815764-47815765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79078330	chr21:47815768-47815769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
5	rs80172282	chr21:47815791-47815792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs80158720	chr21:47815814-47815815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79935378	chr21:47815817-47815818	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557740386	chr21:47815847-47815848	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577722201	chr21:47815850-47815851	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4818838	chr21:47815873-47815874	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs4818839	chr21:47815881-47815882	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs181973233	chr21:47815900-47815901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77591635	chr21:47815926-47815927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571927631	chr21:47815929-47815930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78150935	chr21:47815933-47815934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538933666	chr21:47815957-47815958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200190710	chr21:47816012-47816013	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186089624	chr21:47816015-47816016	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190760262	chr21:47816022-47816023	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147741863	chr21:47816068-47816069	Weak transcription Strong transcription Genic enhancers	n/a	n/a	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:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47787400-47817000	Weak transcription	Small Intestine	intestine
3	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr21:47790000-47822000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:47795000-47821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr21:47801200-47826200	Strong transcription	Fetal Stomach	stomach
7	chr21:47801400-47825000	Strong transcription	Primary T cells from cord blood	blood
8	chr21:47802200-47830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:47802200-47842600	Strong transcription	Dnd41	blood
10	chr21:47803200-47872400	Weak transcription	Fetal Kidney	kidney
11	chr21:47803600-47842600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:47804000-47825000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr21:47804000-47826200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:47804000-47826200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:47804200-47824600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr21:47804200-47825000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:47804200-47825600	Strong transcription	Left Ventricle	heart
18	chr21:47804200-47826400	Strong transcription	Fetal Thymus	thymus
19	chr21:47804600-47825400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:47804600-47825600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr21:47804600-47826200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:47804600-47827000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:47804800-47817600	Strong transcription	Thymus	Thymus
24	chr21:47804800-47823000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:47804800-47843000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr21:47804800-47843000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr21:47804800-47843400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:47805800-47825400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr21:47806000-47816800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr21:47806200-47825000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr21:47806400-47824000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr21:47806600-47822200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr21:47806800-47817000	Weak transcription	Primary B cells from cord blood	blood
34	chr21:47808400-47819200	Strong transcription	Spleen	Spleen
35	chr21:47809800-47842600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr21:47810400-47816200	Weak transcription	Hela-S3	cervix
37	chr21:47811400-47817000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr21:47811600-47817200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr21:47811800-47817400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr21:47812000-47816000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr21:47813400-47817600	Weak transcription	NHDF-Ad	bronchial
42	chr21:47813400-47823200	Strong transcription	Colonic Mucosa	Colon
43	chr21:47813600-47816400	Strong transcription	Colon Smooth Muscle	Colon
44	chr21:47813600-47817000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:47813600-47817200	Weak transcription	HMEC	breast
46	chr21:47813600-47817400	Weak transcription	Fetal Intestine Large	intestine
47	chr21:47813800-47820600	Weak transcription	Psoas Muscle	Psoas
48	chr21:47813800-47825200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr21:47814000-47816200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr21:47814200-47816800	Weak transcription	Muscle Satellite Cultured Cells	--

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