Variant report

Variant	esv3435314
Chromosome Location	chr21:47965142-47965731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47878343..47879844-chr21:47964827..47967163,2	MCF-7	breast:
2	chr21:47962897..47964618-chr21:47964925..47967563,2	K562	blood:
3	chr21:47964705..47967234-chr21:47968598..47971419,5	K562	blood:
4	chr21:47949927..47954811-chr21:47962745..47966393,6	K562	blood:
5	chr21:47955962..47958891-chr21:47961483..47965848,4	MCF-7	breast:
6	chr21:47959900..47962353-chr21:47964256..47965869,2	K562	blood:
7	chr21:47964144..47967545-chr21:47972969..47977002,4	K562	blood:

Variant related genes	Relation type
ENSG00000160305	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200370702	chr21:47965143-47965144	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539382417	chr21:47965147-47965148	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373891540	chr21:47965152-47965153	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34495896	chr21:47965155-47965156	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377550062	chr21:47965171-47965172	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150180949	chr21:47965205-47965206	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374356816	chr21:47965210-47965211	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138814032	chr21:47965255-47965256	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71326332	chr21:47965275-47965276	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143101170	chr21:47965287-47965288	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555502626	chr21:47965312-47965313	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575056753	chr21:47965343-47965344	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542423009	chr21:47965365-47965366	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560556786	chr21:47965390-47965391	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113309718	chr21:47965457-47965458	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147522868	chr21:47965463-47965464	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564098663	chr21:47965495-47965496	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531601838	chr21:47965504-47965505	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549835646	chr21:47965564-47965565	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183562712	chr21:47965593-47965594	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529404233	chr21:47965608-47965609	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566597443	chr21:47965628-47965629	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547550924	chr21:47965632-47965633	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565785816	chr21:47965665-47965666	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532215545	chr21:47965696-47965697	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113175520	chr21:47965702-47965703	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370570276	chr21:47965703-47965704	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557774638	chr21:47965722-47965723	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569622380	chr21:47965723-47965724	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 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:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47933000-47967200	Weak transcription	Fetal Kidney	kidney
2	chr21:47943600-47990600	Strong transcription	Fetal Stomach	stomach
3	chr21:47947200-47975200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr21:47947400-47965600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:47947600-47967200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:47947600-47989000	Strong transcription	Dnd41	blood
7	chr21:47947600-47991000	Strong transcription	Fetal Muscle Leg	muscle
8	chr21:47948000-47968400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr21:47948400-47971600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr21:47948400-47993600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:47948600-47968000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr21:47948600-47968000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:47948600-47971400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr21:47948600-47993200	Strong transcription	Fetal Intestine Large	intestine
15	chr21:47948800-47969000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr21:47948800-47970400	Strong transcription	Placenta	Placenta
17	chr21:47948800-47979400	Strong transcription	Liver	Liver
18	chr21:47949000-47965200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:47949000-47969000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr21:47949000-47979000	Strong transcription	Adipose Nuclei	Adipose
21	chr21:47949000-47988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:47949000-47993600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:47949600-47968600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr21:47949600-47970200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr21:47949800-47967800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:47949800-47991800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:47950000-47965200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr21:47950000-47968800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr21:47950000-47989200	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr21:47950000-47991000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr21:47950200-47993200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr21:47950400-47971800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr21:47950400-47974400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:47952000-47965200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr21:47952000-47978600	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr21:47952200-47968200	Strong transcription	Fetal Brain Female	brain
37	chr21:47953000-47974800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:47953000-47988200	Strong transcription	Gastric	stomach
39	chr21:47953000-47988600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:47953200-47967000	Strong transcription	Brain Substantia Nigra	brain
41	chr21:47953200-47968400	Strong transcription	Lung	lung
42	chr21:47953200-47968400	Strong transcription	Spleen	Spleen
43	chr21:47953200-47968600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr21:47953200-47968800	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr21:47953200-47971800	Strong transcription	Thymus	Thymus
46	chr21:47953200-47972000	Strong transcription	Ovary	ovary
47	chr21:47953200-47983400	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr21:47953200-47988400	Strong transcription	Fetal Intestine Small	intestine
49	chr21:47953200-47993000	Strong transcription	Osteobl	bone
50	chr21:47953400-47967600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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