Variant report

Variant	esv2520405
Chromosome Location	chr21:47445552-47446985
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	chr21:47444128..47447153-chr21:47459721..47462680,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557583385	chr21:47445568-47445569	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190287168	chr21:47445610-47445611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542730980	chr21:47445631-47445632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561006268	chr21:47445667-47445668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538362155	chr21:47445668-47445669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558670379	chr21:47445682-47445683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369393025	chr21:47445692-47445693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373317714	chr21:47445727-47445728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7277557	chr21:47445769-47445770	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4293630	chr21:47445791-47445792	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
11	rs541021174	chr21:47445928-47445929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200795454	chr21:47446015-47446016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373475306	chr21:47446030-47446031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574414505	chr21:47446050-47446051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76776737	chr21:47446052-47446053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550509943	chr21:47446066-47446067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56344865	chr21:47446092-47446093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55982203	chr21:47446094-47446095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55778509	chr21:47446096-47446097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115050216	chr21:47446154-47446155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575008504	chr21:47446242-47446243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181024394	chr21:47446248-47446249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74769677	chr21:47446292-47446293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79306428	chr21:47446394-47446395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79464142	chr21:47446395-47446396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542480298	chr21:47446439-47446440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7277589	chr21:47446486-47446487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201760818	chr21:47446557-47446558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185907291	chr21:47446635-47446636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190300039	chr21:47446645-47446646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539315007	chr21:47446662-47446663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557722440	chr21:47446690-47446691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532592266	chr21:47446738-47446739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569589448	chr21:47446742-47446743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536816666	chr21:47446782-47446783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554869898	chr21:47446791-47446792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572855468	chr21:47446839-47446840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552439232	chr21:47446854-47446855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539994215	chr21:47446858-47446859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530967353	chr21:47446950-47446951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558522339	chr21:47446970-47446971	Weak transcription 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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47439600-47445800	Enhancers	Fetal Stomach	stomach
2	chr21:47441600-47449200	Enhancers	Fetal Intestine Large	intestine
3	chr21:47442600-47446000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:47442800-47447800	Weak transcription	Adipose Nuclei	Adipose
5	chr21:47442800-47449600	Enhancers	Rectal Smooth Muscle	rectum
6	chr21:47443200-47445600	Enhancers	Fetal Kidney	kidney
7	chr21:47443200-47446200	Enhancers	Colon Smooth Muscle	Colon
8	chr21:47443400-47446200	Enhancers	NHLF	lung
9	chr21:47443600-47445600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:47443600-47445800	Enhancers	Fetal Intestine Small	intestine
11	chr21:47443600-47448000	Weak transcription	Fetal Muscle Leg	muscle
12	chr21:47443800-47446800	Enhancers	NHDF-Ad	bronchial
13	chr21:47444000-47447800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr21:47444200-47448200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:47444400-47449400	Enhancers	Fetal Lung	lung
16	chr21:47444600-47447600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr21:47444800-47446000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:47445000-47445600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:47445000-47445600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr21:47445000-47445600	Enhancers	Stomach Smooth Muscle	stomach
21	chr21:47445000-47445600	Flanking Active TSS	Osteobl	bone
22	chr21:47445000-47446000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:47445000-47446200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:47445200-47445600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr21:47445200-47445600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:47445200-47445600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr21:47445200-47445600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr21:47445200-47445600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:47445200-47445600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:47445200-47445600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:47445200-47445600	Enhancers	Aorta	Aorta
32	chr21:47445200-47445600	Enhancers	Placenta	Placenta
33	chr21:47445200-47445600	Enhancers	Ovary	ovary
34	chr21:47445200-47445600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr21:47445200-47445600	Enhancers	Stomach Mucosa	stomach
36	chr21:47445200-47445600	Enhancers	HSMM	muscle
37	chr21:47445200-47445600	Enhancers	HSMMtube	muscle
38	chr21:47445200-47445800	Enhancers	NH-A	brain
39	chr21:47445200-47446000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr21:47445200-47446000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr21:47445400-47445600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr21:47445400-47445800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr21:47445400-47449200	Weak transcription	Left Ventricle	heart
44	chr21:47445600-47446000	Enhancers	Osteobl	bone
45	chr21:47445600-47446400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr21:47445600-47447200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:47445600-47447600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr21:47445600-47447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr21:47445600-47448000	Weak transcription	Ovary	ovary
50	chr21:47445600-47448000	Weak transcription	HSMM	muscle

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