Variant report

Variant	esv6854
Chromosome Location	chr21:47467322-47468434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47468296-47473687	IMR90	lung:	n/a	n/a
2	POU2F2	chr21:47467388-47467952	GM12878	blood:	n/a	n/a
3	ZBTB33	chr21:47467389-47467849	K562	blood:	n/a	n/a
4	ZBTB33	chr21:47467156-47467953	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..47467897-chr21:47467945..47470124,3	K562	blood:
3	chr21:47464638..47466951-chr21:47467945..47470531,2	K562	blood:
4	chr21:47464638..47467897-chr21:47467945..47470124,3	K562	blood:
5	chr21:47467167..47469249-chr21:47470137..47471990,2	K562	blood:
6	chr21:47389198..47390888-chr21:47465741..47468426,2	K562	blood:

No data

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

Extended variants
information (count: 108 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111605414	chr21:47467324-47467325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs199728945	chr21:47467339-47467340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74208847	chr21:47467340-47467341	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373554542	chr21:47467350-47467351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73378495	chr21:47467361-47467362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs199522545	chr21:47467384-47467385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79438276	chr21:47467394-47467395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371603624	chr21:47467396-47467397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372581908	chr21:47467399-47467400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199803658	chr21:47467423-47467424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144033783	chr21:47467435-47467436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200691976	chr21:47467449-47467450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374316046	chr21:47467450-47467451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112980780	chr21:47467474-47467475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376285585	chr21:47467476-47467477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9983579	chr21:47467481-47467482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373517800	chr21:47467489-47467490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201684011	chr21:47467497-47467498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200025822	chr21:47467499-47467500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs71992161	chr21:47467538-47467539	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs111591937	chr21:47467541-47467542	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs56657548	chr21:47467542-47467543	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs71324482	chr21:47467552-47467553	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs71324483	chr21:47467567-47467568	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs71324484	chr21:47467572-47467573	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs71324485	chr21:47467606-47467607	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs74198215	chr21:47467623-47467624	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs80342668	chr21:47467630-47467631	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201166383	chr21:47467632-47467633	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs74220105	chr21:47467637-47467638	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs377657252	chr21:47467664-47467665	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs189348448	chr21:47467669-47467670	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs74184452	chr21:47467684-47467685	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370882360	chr21:47467685-47467686	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373998658	chr21:47467690-47467691	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375914434	chr21:47467691-47467692	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565501627	chr21:47467698-47467699	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs71242507	chr21:47467699-47467700	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs73908127	chr21:47467703-47467704	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113241210	chr21:47467705-47467706	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11385756	chr21:47467718-47467719	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs145955048	chr21:47467719-47467720	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs9984003	chr21:47467729-47467730	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs9975159	chr21:47467733-47467734	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs145531428	chr21:47467745-47467746	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs9983041	chr21:47467751-47467752	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs10084561	chr21:47467755-47467756	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs369261417	chr21:47467768-47467769	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs9983112	chr21:47467782-47467783	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs199910282	chr21:47467796-47467797	Weak transcription	TF binding region Chromatin interactive region	2 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:23 , 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
15	chr21:47468200-47469000	Enhancers	Placenta	Placenta
16	chr21:47468200-47470400	Enhancers	Colonic Mucosa	Colon
17	chr21:47468200-47470400	Enhancers	Fetal Stomach	stomach
18	chr21:47468200-47471600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:47468200-47477800	Enhancers	NHDF-Ad	bronchial
20	chr21:47468200-47478000	Enhancers	Fetal Muscle Leg	muscle
21	chr21:47468400-47469600	Enhancers	Osteobl	bone
22	chr21:47468400-47470600	Enhancers	NHLF	lung
23	chr21:47468400-47473000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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