Variant report

Variant	rs17049066
Chromosome Location	chr2:57922346-57922347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11690473	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802580	1.00[AFR][1000 genomes]
rs72804522	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72804523	1.00[AFR][1000 genomes]
rs72804525	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72804529	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816594	1.00[AFR][1000 genomes]
rs72818146	1.00[AFR][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	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874193	chr2:57758608-58066673	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006688	chr2:57822953-58030203	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1007420	chr2:57875786-57924300	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57913600-57923600	Weak transcription	Thymus	Thymus
2	chr2:57915200-57923000	Weak transcription	Fetal Thymus	thymus
3	chr2:57919400-57923200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:57921400-57923200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:57921400-57925800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:57921400-57927600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:57921600-57922600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:57921600-57923000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:57921600-57923000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:57921600-57923000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:57921600-57923000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:57921800-57928200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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