Variant report

Variant	rs57893648
Chromosome Location	chr1:97622785-97622786
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17116488	0.88[ASN][1000 genomes]
rs17116518	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61240803	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6656660	0.85[ASN][1000 genomes]
rs7529372	0.85[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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830692	chr1:97501492-97625153	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:97564200-97632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:97604400-97629000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:97606200-97626600	Weak transcription	Ovary	ovary
4	chr1:97609200-97627800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:97611600-97639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:97612200-97626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:97613200-97629000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:97617400-97625400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:97617800-97625000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:97620000-97623600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:97620200-97623000	Weak transcription	Liver	Liver
12	chr1:97620200-97624400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:97620200-97658400	Weak transcription	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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