Variant report

Variant	rs2711881
Chromosome Location	chr7:103135431-103135432
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	chr7:103129355..103132565-chr7:103134493..103137999,5	K562	blood:
2	chr7:103135205..103136843-chr7:103141167..103143732,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1004245	0.80[GIH][hapmap]
rs10233848	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12536415	0.86[CHD][hapmap]
rs1978198	0.90[ASN][1000 genomes]
rs1978199	0.90[ASN][1000 genomes]
rs2041006	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075040	0.86[CHD][hapmap]
rs2190417	0.88[ASN][1000 genomes]
rs2190418	0.90[ASN][1000 genomes]
rs2299331	0.84[CHD][hapmap];0.95[JPT][hapmap]
rs2528856	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2528859	0.95[CEU][hapmap];0.89[CHB][hapmap];0.94[EUR][1000 genomes]
rs2528869	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2528871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2528876	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2711846	0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs2711851	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2711853	0.86[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap]
rs2906641	0.83[ASN][1000 genomes]
rs2906643	0.96[ASN][1000 genomes]
rs2965087	0.88[ASN][1000 genomes]
rs2965098	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808043	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808050	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3808051	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4727570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6944123	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7783672	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7808296	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7808699	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2711881	PDAP1	cis	parietal	SCAN
rs2711881	SLC26A5	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103118400-103138000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:103122800-103141000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:103130800-103135800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:103130800-103155000	Weak transcription	Brain Substantia Nigra	brain
5	chr7:103130800-103163600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:103131200-103136200	Weak transcription	HepG2	liver
7	chr7:103131200-103137000	Weak transcription	Brain Anterior Caudate	brain
8	chr7:103131200-103145000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:103131400-103138000	Weak transcription	K562	blood

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