Variant report

Variant	rs7593837
Chromosome Location	chr2:11875297-11875298
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11872488..11875860-chr2:11884452..11886628,3	K562	blood:
2	chr2:11872902..11875689-chr2:11878776..11880592,2	K562	blood:
3	chr2:11869912..11872464-chr2:11874565..11877057,2	K562	blood:

Variant related genes	Relation type
ENSG00000230790	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1036393	1.00[ASN][1000 genomes]
rs11538448	1.00[ASN][1000 genomes]
rs11675463	1.00[ASN][1000 genomes]
rs11676175	1.00[ASN][1000 genomes]
rs11677240	1.00[ASN][1000 genomes]
rs11683719	1.00[ASN][1000 genomes]
rs11890442	1.00[ASN][1000 genomes]
rs11892871	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894146	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894751	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421972	1.00[ASN][1000 genomes]
rs1561010	1.00[ASN][1000 genomes]
rs1561011	1.00[ASN][1000 genomes]
rs16857679	1.00[ASN][1000 genomes]
rs34592059	1.00[ASN][1000 genomes]
rs34928762	1.00[ASN][1000 genomes]
rs45509591	1.00[ASN][1000 genomes]
rs55890755	1.00[ASN][1000 genomes]
rs56788115	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57097271	1.00[ASN][1000 genomes]
rs59085046	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59208217	1.00[ASN][1000 genomes]
rs59408163	1.00[ASN][1000 genomes]
rs60662456	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61239977	1.00[ASN][1000 genomes]
rs61585887	0.91[EUR][1000 genomes]
rs62113260	1.00[ASN][1000 genomes]
rs62113263	1.00[ASN][1000 genomes]
rs62113264	1.00[ASN][1000 genomes]
rs62113265	1.00[ASN][1000 genomes]
rs62113266	1.00[ASN][1000 genomes]
rs62113267	1.00[ASN][1000 genomes]
rs62113293	1.00[ASN][1000 genomes]
rs62113296	1.00[ASN][1000 genomes]
rs62113297	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113298	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113299	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113300	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113302	1.00[ASN][1000 genomes]
rs62113303	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113305	1.00[ASN][1000 genomes]
rs62113307	1.00[ASN][1000 genomes]
rs62113308	1.00[ASN][1000 genomes]
rs62113309	1.00[ASN][1000 genomes]
rs62113310	1.00[ASN][1000 genomes]
rs62113313	1.00[ASN][1000 genomes]
rs62113354	1.00[ASN][1000 genomes]
rs62113357	1.00[ASN][1000 genomes]
rs62114961	1.00[ASN][1000 genomes]
rs62114962	1.00[ASN][1000 genomes]
rs62114963	1.00[ASN][1000 genomes]
rs62114964	1.00[ASN][1000 genomes]
rs62114967	1.00[ASN][1000 genomes]
rs62114968	1.00[ASN][1000 genomes]
rs62116185	1.00[ASN][1000 genomes]
rs62116208	1.00[ASN][1000 genomes]
rs62116209	1.00[ASN][1000 genomes]
rs6707885	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716999	1.00[ASN][1000 genomes]
rs6717771	1.00[ASN][1000 genomes]
rs6726960	1.00[ASN][1000 genomes]
rs6744695	1.00[ASN][1000 genomes]
rs6744803	1.00[ASN][1000 genomes]
rs71446421	1.00[ASN][1000 genomes]
rs72773987	1.00[ASN][1000 genomes]
rs72773997	1.00[ASN][1000 genomes]
rs72773999	1.00[ASN][1000 genomes]
rs72774000	1.00[ASN][1000 genomes]
rs7566112	1.00[ASN][1000 genomes]
rs7566488	1.00[ASN][1000 genomes]
rs7569901	1.00[ASN][1000 genomes]
rs7570139	1.00[ASN][1000 genomes]
rs7575000	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11874400-11876400	Enhancers	Fetal Intestine Large	intestine
2	chr2:11874800-11878800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:11875000-11878800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:11875200-11883000	Weak transcription	H1 Cell Line	embryonic stem cell

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