Variant report

Variant	rs2494031
Chromosome Location	chr1:158675681-158675682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:158659297..158661841-chr1:158675200..158677714,2	K562	blood:
2	chr1:158669887..158672800-chr1:158674715..158677591,2	K562	blood:
3	chr1:158674913..158677154-chr1:158686436..158687990,2	K562	blood:

Variant related genes	Relation type
ENSG00000196171	Chromatin interaction
ENSG00000203757	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10908689	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10908690	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11807176	0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs167819	1.00[AFR][1000 genomes]
rs2427802	1.00[AFR][1000 genomes]
rs2435284	1.00[AFR][1000 genomes]
rs2435285	0.92[AFR][1000 genomes]
rs2435286	0.96[AFR][1000 genomes]
rs2435287	1.00[AFR][1000 genomes]
rs2482950	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2482951	0.96[AFR][1000 genomes]
rs2482953	1.00[AFR][1000 genomes]
rs2482954	1.00[AFR][1000 genomes]
rs2482955	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs2482956	1.00[AFR][1000 genomes]
rs2482958	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511194	1.00[AFR][1000 genomes]
rs2511195	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2511196	1.00[AFR][1000 genomes]
rs2511197	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2511199	1.00[YRI][hapmap]
rs2564857	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2564858	1.00[AFR][1000 genomes]
rs2564859	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2779115	1.00[AFR][1000 genomes]
rs2990516	1.00[AFR][1000 genomes]
rs3097413	1.00[AFR][1000 genomes]
rs3097414	1.00[AFR][1000 genomes]
rs326000	1.00[AFR][1000 genomes]
rs365037	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs366221	1.00[AFR][1000 genomes]
rs368029	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs378794	1.00[AFR][1000 genomes]
rs385096	1.00[AFR][1000 genomes]
rs399832	1.00[AFR][1000 genomes]
rs405879	0.96[AFR][1000 genomes]
rs414409	1.00[AFR][1000 genomes]
rs423141	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs428594	1.00[AFR][1000 genomes]
rs431295	1.00[AFR][1000 genomes]
rs435080	1.00[AFR][1000 genomes]
rs439265	0.85[AFR][1000 genomes]
rs443386	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs448387	1.00[AFR][1000 genomes]
rs450889	0.89[YRI][hapmap];1.00[AFR][1000 genomes]
rs452233	1.00[AFR][1000 genomes]
rs6427446	1.00[YRI][hapmap]
rs6682506	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703132	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3491788	chr1:158537183-158725907	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3491789	chr1:158537242-158725858	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv872481	chr1:158625789-158712510	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv872482	chr1:158635852-158698532	Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv872483	chr1:158635852-158712510	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv1003179	chr1:158660064-158689952	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv998605	chr1:158660064-158696818	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv547987	chr1:158664972-158720188	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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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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