Variant report

Variant	rs1415894
Chromosome Location	chr1:221864279-221864280
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:4)

rs_ID	r²[population]
rs17010269	1.00[AFR][1000 genomes]
rs17010405	1.00[AFR][1000 genomes]
rs4846720	1.00[AFR][1000 genomes]
rs72734770	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221846000-221869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221860600-221864600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:221861600-221864800	Weak transcription	K562	blood
4	chr1:221861600-221875600	Weak transcription	Aorta	Aorta
5	chr1:221861800-221875200	Weak transcription	Left Ventricle	heart
6	chr1:221862000-221864400	Weak transcription	Fetal Heart	heart
7	chr1:221862000-221868200	Weak transcription	HSMMtube	muscle
8	chr1:221862400-221878600	Weak transcription	Primary T cells from cord blood	blood
9	chr1:221863000-221875000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:221863200-221871800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:221863800-221864600	Enhancers	Psoas Muscle	Psoas
12	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:221864200-221864400	Enhancers	Skeletal Muscle Female	skeletal muscle

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Input of quick search could be:

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

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