Variant report

Variant	rs17571933
Chromosome Location	chr1:168833608-168833609
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11577020	0.84[EUR][1000 genomes]
rs11586213	0.80[EUR][1000 genomes]
rs12033844	0.96[EUR][1000 genomes]
rs12124802	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12139484	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1322493	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322494	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322496	0.96[EUR][1000 genomes]
rs1540942	0.80[EUR][1000 genomes]
rs2104191	0.84[EUR][1000 genomes]
rs2146204	0.80[EUR][1000 genomes]
rs2208748	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2208749	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59148528	0.85[EUR][1000 genomes]
rs715007	0.94[ASN][1000 genomes]
rs72695642	0.80[EUR][1000 genomes]
rs992055	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv437258	chr1:168824111-168890420	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:168831400-168837000	Weak transcription	Stomach Mucosa	stomach
2	chr1:168832200-168834000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:168832400-168833800	Enhancers	Adipose Nuclei	Adipose
4	chr1:168832600-168833800	Enhancers	Fetal Stomach	stomach
5	chr1:168832800-168833800	Enhancers	Colon Smooth Muscle	Colon
6	chr1:168832800-168833800	Enhancers	Fetal Lung	lung
7	chr1:168832800-168834200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:168832800-168834600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:168833200-168833800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:168833200-168834200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:168833400-168833800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:168833400-168833800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:168833600-168834400	Enhancers	A549	lung

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

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