Variant report

Variant	rs2602381
Chromosome Location	chr2:234584324-234584325
allele	C/T
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:

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1018124	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs10929293	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12052787	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12053462	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12463641	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12466747	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12466779	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12466997	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12468356	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12468543	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12472689	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12474215	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12474980	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12475068	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12476197	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12477216	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12479045	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12479208	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12988520	0.89[CEU][hapmap];0.83[CHB][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs1604144	0.87[JPT][hapmap]
rs17862856	0.81[ASN][1000 genomes]
rs17862857	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17862870	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs17862878	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs17863791	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs17863792	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs17863798	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs17864686	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs17864705	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs17868325	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs17868334	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs17868342	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs17874943	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs2003569	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs2013018	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs2013021	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs2013030	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs2885295	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs28898596	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs28898605	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs28898615	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs28898621	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs28899186	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs28899187	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs28899189	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs28946877	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3732218	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3732220	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3732221	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3755321	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3771342	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3796088	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3806591	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3806593	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3806594	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3806595	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3892170	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs3893334	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs4233633	0.80[JPT][hapmap]
rs4485562	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4556969	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs4663325	0.80[JPT][hapmap]
rs4663326	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs4663327	0.80[JPT][hapmap]
rs4663871	0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4663877	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4663945	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs4663964	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs4663968	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs6751673	0.87[JPT][hapmap]
rs6753317	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7420193	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs7592624	0.92[CEU][hapmap];0.83[GIH][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs904855	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs904856	0.81[CHB][hapmap];0.86[JPT][hapmap]

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	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	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
3	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
4	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
5	esv3340677	chr2:234580879-234591324	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Attention deficit hyperactivity disorder	20732626	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2602381	ALPI	cis	parietal	SCAN

Chromatin state (count:4 , 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	chr2:234583000-234585400	Enhancers	A549	lung
4	chr2:234584000-234585600	Enhancers	Liver	Liver

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