Variant report

Variant	rs2741044
Chromosome Location	chr2:234579368-234579369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234577799..234579592-chr2:234583305..234585773,2	K562	blood:
2	chr2:234578802..234581575-chr2:234598668..234600515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10168416	0.90[CEU][hapmap]
rs10173355	0.90[CEU][hapmap]
rs10202865	0.90[CEU][hapmap]
rs13009407	0.89[CEU][hapmap]
rs17863787	0.85[CEU][hapmap]
rs2070959	0.85[CEU][hapmap]
rs2602362	0.86[ASN][1000 genomes]
rs2602373	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2602374	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2741012	0.86[ASN][1000 genomes]
rs2741013	0.86[ASN][1000 genomes]
rs2741019	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2741021	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2741022	0.86[ASN][1000 genomes]
rs2741023	0.86[ASN][1000 genomes]
rs2741027	0.86[ASN][1000 genomes]
rs2741029	1.00[CHB][hapmap]
rs2741030	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2741034	0.86[ASN][1000 genomes]
rs2741036	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2741038	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2741042	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2741045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2741046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28899170	0.90[CEU][hapmap]
rs4148324	0.81[CEU][hapmap]
rs4148325	0.81[CEU][hapmap]
rs6742078	0.81[CEU][hapmap]
rs7571915	0.81[EUR][1000 genomes]
rs887829	0.81[CEU][hapmap]
rs929596	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv876015	chr2:234518011-234579915	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234554600-234587800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:234577400-234579800	Enhancers	Liver	Liver

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