Variant report

Variant	rs2836424
Chromosome Location	chr21:39838572-39838573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1041795	0.94[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2836429	0.84[EUR][1000 genomes]
rs2836435	0.94[CEU][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3787903	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs9977083	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9978004	0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834098	chr21:39691898-39845254	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39811200-39847400	Weak transcription	Right Ventricle	heart
2	chr21:39812800-39844600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr21:39832200-39839200	Weak transcription	Fetal Thymus	thymus
4	chr21:39833200-39842800	Weak transcription	Esophagus	oesophagus
5	chr21:39833400-39838800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:39835600-39840000	Weak transcription	Spleen	Spleen
7	chr21:39835800-39839800	Weak transcription	Lung	lung
8	chr21:39835800-39842800	Weak transcription	Left Ventricle	heart
9	chr21:39836000-39844400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:39836400-39841000	Strong transcription	HUVEC	blood vessel
11	chr21:39836600-39842600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:39837600-39839000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:39837800-39839600	Genic enhancers	Primary hematopoietic stem cells	blood
14	chr21:39838000-39840000	Weak transcription	Aorta	Aorta
15	chr21:39838000-39844400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr21:39838400-39839000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr21:39838400-39839200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr21:39838400-39842600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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