Variant report

Variant	esv999960
Chromosome Location	chr21:47318202-47318279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47318201-47318285	MCF-7	breast:	n/a	n/a
2	POLR2A	chr21:47318130-47318503	MCF-7	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTCD-6	chr21:47318001-47318626	NONHSAT082999

Variant related genes	Relation type
PCBP3	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535451183	chr21:47318222-47318223	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs9980645	chr21:47318224-47318225	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs111908728	chr21:47318233-47318234	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	mRNA abundance
4	rs370793293	chr21:47318248-47318249	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs111646496	chr21:47318259-47318260	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs9980523	chr21:47318266-47318267	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs13050086	chr21:47318273-47318274	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs141111584	chr21:47318274-47318275	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs13050087	chr21:47318276-47318277	Weak transcription Strong transcription	TF binding region lncRNA	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
2	chr21:47313200-47335600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:47313400-47321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:47313800-47321600	Weak transcription	Primary T cells from cord blood	blood
5	chr21:47314400-47330200	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:47314600-47324600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr21:47314600-47327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr21:47314600-47330200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:47315000-47330200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:47315200-47323400	Weak transcription	HSMMtube	muscle
11	chr21:47315200-47330200	Weak transcription	Adipose Nuclei	Adipose
12	chr21:47315800-47319600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:47316200-47322600	Weak transcription	Fetal Thymus	thymus
14	chr21:47316200-47326600	Strong transcription	Thymus	Thymus
15	chr21:47317600-47322400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:47317800-47318600	Strong transcription	Spleen	Spleen
17	chr21:47317800-47322400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:47318000-47318800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:47318000-47320000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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