Variant report

Variant	rs2785596
Chromosome Location	chr1:93528108-93528109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93324135..93325204-chr1:93527740..93528408,3	MCF-7	breast:
2	chr1:93323848..93325079-chr1:93527454..93528796,12	K562	blood:
3	chr1:93296941..93299112-chr1:93527214..93529476,2	K562	blood:
4	chr1:93486832..93487777-chr1:93527684..93528337,5	MCF-7	breast:
5	chr1:93433953..93434929-chr1:93527495..93528205,3	MCF-7	breast:
6	chr1:93324231..93325146-chr1:93527492..93528386,4	MCF-7	breast:
7	chr1:93296777..93298441-chr1:93527629..93529476,2	K562	blood:
8	chr1:93308545..93311072-chr1:93527284..93530224,2	K562	blood:
9	chr1:93486773..93487911-chr1:93527469..93528398,9	K562	blood:
10	chr1:93485808..93487588-chr1:93526047..93528280,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11799928	1.00[CHB][hapmap]
rs11801977	1.00[CHB][hapmap]
rs11807404	1.00[CHB][hapmap]
rs11808445	1.00[CHB][hapmap]
rs2249584	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249730	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2265925	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2265926	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2619816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2785598	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2785599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3171	1.00[CHB][hapmap]
rs6667540	1.00[CHB][hapmap]
rs6671070	1.00[CHB][hapmap]
rs6679304	1.00[CHB][hapmap]
rs6689867	1.00[CHB][hapmap]
rs72955322	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529230	1.00[CHB][hapmap]

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93525800-93528600	Enhancers	Fetal Thymus	thymus
2	chr1:93525800-93528600	Enhancers	Dnd41	blood
3	chr1:93527600-93528200	Enhancers	Thymus	Thymus
4	chr1:93527800-93528200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:93528000-93528200	Enhancers	Fetal Intestine Large	intestine

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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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