Variant report

Variant	rs8057320
Chromosome Location	chr16:31269551-31269552
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	chr16:31268013..31271102-chr16:31279440..31281089,3	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10438639	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052352	0.83[JPT][hapmap]
rs11150613	0.86[CHB][hapmap]
rs11150614	0.91[GIH][hapmap]
rs11150616	0.89[GIH][hapmap]
rs11574631	0.86[CHB][hapmap];0.89[GIH][hapmap]
rs11641624	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645526	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11864632	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs11865830	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12449089	0.83[ASN][1000 genomes]
rs12929077	0.87[CEU][hapmap];0.94[JPT][hapmap]
rs13336592	0.83[CEU][hapmap]
rs1808430	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2011491	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288005	0.83[JPT][hapmap]
rs2359661	0.84[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.85[ASN][1000 genomes]
rs2735393	0.87[CEU][hapmap];0.84[GIH][hapmap];0.83[JPT][hapmap]
rs3087796	0.83[CHB][hapmap]
rs3764327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3815801	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4077810	0.86[CHB][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap]
rs4447446	0.85[ASN][1000 genomes]
rs4459557	0.86[CHB][hapmap]
rs4561481	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4597342	0.86[CHB][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap]
rs4889537	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs4889639	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4889640	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889644	0.81[EUR][1000 genomes]
rs60660286	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6565225	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7186832	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs7187143	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs7193943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7196256	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7206295	0.86[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap]
rs741810	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs7499192	0.87[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8044075	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8047985	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8048583	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8051304	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8056505	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs8060268	0.86[CHB][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap]
rs8062426	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs889549	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs889551	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929868	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9673519	0.88[CHB][hapmap]
rs9923270	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9938177	0.92[EUR][1000 genomes];0.91[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	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
2	nsv1066073	chr16:31219071-31278572	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs8057320	CD19	cis	cerebellum	SCAN
rs8057320	YPEL3	cis	parietal	SCAN
rs8057320	MYST1	cis	parietal	SCAN
rs8057320	FUS	cis	cerebellum	SCAN
rs8057320	ITGAX	cis	lymphoblastoid	seeQTL
rs8057320	RABEP2	cis	cerebellum	SCAN
rs8057320	MYST1	cis	cerebellum	SCAN
rs8057320	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31262800-31271800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:31263000-31271000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:31265200-31270600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:31265200-31271400	Weak transcription	Right Atrium	heart
5	chr16:31265200-31271600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr16:31265200-31276600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:31265400-31270800	Weak transcription	Spleen	Spleen
8	chr16:31265600-31269800	Weak transcription	GM12878-XiMat	blood
9	chr16:31265600-31270200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr16:31265800-31269600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr16:31265800-31271200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:31265800-31276400	Weak transcription	A549	lung
13	chr16:31266200-31269800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:31266600-31269600	Weak transcription	Primary B cells from cord blood	blood
15	chr16:31267200-31270000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr16:31267200-31270400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr16:31267400-31269600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:31268200-31270000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:31268200-31270000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr16:31268200-31271000	Weak transcription	K562	blood
21	chr16:31269000-31271200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr16:31269200-31270800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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