Variant report

Variant	esv3375973
Chromosome Location	chr21:47467616-47468088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr21:47467388-47467952	GM12878	blood:	n/a	n/a
2	ZBTB33	chr21:47467156-47467953	K562	blood:	n/a	n/a
3	ZBTB33	chr21:47467389-47467849	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47456464..47458445-chr21:47465961..47468863,2	MCF-7	breast:
2	chr21:47464638..47466951-chr21:47467945..47470531,2	K562	blood:
3	chr21:47464638..47467897-chr21:47467945..47470124,3	K562	blood:
4	chr21:47389198..47390888-chr21:47465741..47468426,2	K562	blood:
5	chr21:47467167..47469249-chr21:47470137..47471990,2	K562	blood:
6	chr21:47464638..47467897-chr21:47467945..47470124,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228235	TF binding region
ENSG00000224413	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74198215	chr21:47467623-47467624	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs80342668	chr21:47467630-47467631	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201166383	chr21:47467632-47467633	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs74220105	chr21:47467637-47467638	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377657252	chr21:47467664-47467665	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189348448	chr21:47467669-47467670	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs74184452	chr21:47467684-47467685	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370882360	chr21:47467685-47467686	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373998658	chr21:47467690-47467691	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375914434	chr21:47467691-47467692	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565501627	chr21:47467698-47467699	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs71242507	chr21:47467699-47467700	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs73908127	chr21:47467703-47467704	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs113241210	chr21:47467705-47467706	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs11385756	chr21:47467718-47467719	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs145955048	chr21:47467719-47467720	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs9984003	chr21:47467729-47467730	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs9975159	chr21:47467733-47467734	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145531428	chr21:47467745-47467746	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs9983041	chr21:47467751-47467752	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs10084561	chr21:47467755-47467756	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369261417	chr21:47467768-47467769	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs9983112	chr21:47467782-47467783	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs199910282	chr21:47467796-47467797	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs9983769	chr21:47467797-47467798	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138132557	chr21:47467798-47467799	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200919192	chr21:47467802-47467803	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs66721508	chr21:47467807-47467808	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201726581	chr21:47467812-47467813	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs112626153	chr21:47467816-47467817	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376920049	chr21:47467821-47467822	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs147943816	chr21:47467836-47467837	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs145714258	chr21:47467841-47467842	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs9983137	chr21:47467860-47467861	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs9975343	chr21:47467875-47467876	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs377247624	chr21:47467890-47467891	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs9983204	chr21:47467894-47467895	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371417997	chr21:47467914-47467915	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs547805917	chr21:47467920-47467921	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566221249	chr21:47467921-47467922	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111421114	chr21:47467925-47467926	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs4333012	chr21:47467934-47467935	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs111414143	chr21:47467942-47467943	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs540172732	chr21:47467943-47467944	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201272759	chr21:47467971-47467972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs202226014	chr21:47467973-47467974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200379270	chr21:47467982-47467983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1989682	chr21:47468003-47468004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570223131	chr21:47468006-47468007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537645293	chr21:47468036-47468037	Weak transcription 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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47459400-47468600	Weak transcription	HSMMtube	muscle
2	chr21:47461400-47468600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:47461400-47468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:47463400-47468800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:47465200-47468400	Weak transcription	Osteobl	bone
6	chr21:47465600-47468600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:47465800-47468200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:47466000-47468600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:47466600-47468200	Weak transcription	NHDF-Ad	bronchial
10	chr21:47466800-47468400	Weak transcription	NHLF	lung
11	chr21:47466800-47468800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:47466800-47468800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr21:47467000-47469000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:47468000-47472600	Enhancers	Fetal Lung	lung

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