Variant report

Variant	rs7202548
Chromosome Location	chr16:80727754-80727755
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	chr16:80720075..80722615-chr16:80727396..80729407,2	K562	blood:
2	chr16:80709015..80710626-chr16:80725434..80728400,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1026249	0.96[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10871395	0.92[CEU][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.87[AMR][1000 genomes]
rs11150303	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11150306	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11150307	0.83[AMR][1000 genomes]
rs2012766	0.81[CEU][hapmap];0.92[MEX][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28842293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4061957	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55951904	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6564783	0.83[AMR][1000 genomes]
rs6564784	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67472551	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7196811	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7197106	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7201300	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7202345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737176	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8047798	0.94[ASW][hapmap];0.92[CEU][hapmap];0.82[JPT][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8047993	0.81[CEU][hapmap];0.89[AMR][1000 genomes]
rs8049284	1.00[ASW][hapmap];0.92[CEU][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8060994	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8061977	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs896630	0.96[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9922837	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9923180	1.00[CEU][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9927568	1.00[ASW][hapmap];0.92[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9928957	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9929220	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9936059	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9940498	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]

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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv33408	chr16:80706129-80745371	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7202548	ADAT1	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80689000-80751000	Weak transcription	Pancreas	Pancrea
2	chr16:80690600-80728000	Weak transcription	Gastric	stomach
3	chr16:80706200-80734400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr16:80719000-80728000	Weak transcription	Liver	Liver
5	chr16:80719000-80746800	Weak transcription	Spleen	Spleen
6	chr16:80723600-80728000	Weak transcription	Esophagus	oesophagus
7	chr16:80723800-80728800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr16:80725600-80734200	Weak transcription	Hela-S3	cervix
9	chr16:80726000-80728200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr16:80726200-80728200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:80726600-80728000	Weak transcription	Small Intestine	intestine
12	chr16:80727600-80727800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr16:80727600-80728200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr16:80727600-80728600	Enhancers	GM12878-XiMat	blood
15	chr16:80727600-80729200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr16:80727600-80729200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr16:80727600-80732200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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