Variant report

Variant	rs3764327
Chromosome Location	chr16:31273129-31273130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31272641..31274677-chr16:31278876..31282230,3	MCF-7	breast:
2	chr16:31266292..31269250-chr16:31272108..31275023,2	K562	blood:
3	chr16:31189511..31193745-chr16:31272815..31274758,3	MCF-7	breast:
4	chr16:31192016..31194265-chr16:31272981..31274956,2	MCF-7	breast:
5	chr16:31225561..31229093-chr16:31271713..31276905,6	MCF-7	breast:
6	chr16:31270699..31273371-chr16:31276561..31278848,2	K562	blood:
7	chr16:31273033..31275008-chr16:31278904..31280780,2	K562	blood:
8	chr16:31190285..31192717-chr16:31272229..31274986,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252876	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10438639	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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]
rs11641202	0.80[CHD][hapmap]
rs11641624	0.95[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11645526	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]
rs11864632	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs11865830	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12449089	0.83[ASN][1000 genomes]
rs12929077	0.87[CEU][hapmap];0.94[JPT][hapmap]
rs13336592	0.83[CEU][hapmap]
rs1808430	0.91[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];0.85[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]
rs3815801	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4077810	0.86[CHB][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap]
rs4447446	0.85[ASN][1000 genomes]
rs4459557	0.86[CHB][hapmap]
rs4561481	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];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889644	0.81[EUR][1000 genomes]
rs60660286	0.85[AMR][1000 genomes];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	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7196256	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7206295	0.86[CHB][hapmap];0.85[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];0.82[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	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8048583	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8051304	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8056505	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs8057320	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]
rs8060268	0.86[CHB][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap]
rs8062426	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs889549	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs889551	0.82[AMR][1000 genomes];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	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9938177	0.85[AMR][1000 genomes];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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3764327	MYST1	cis	cerebellum	SCAN
rs3764327	MYST1	cis	parietal	SCAN
rs3764327	CD19	cis	cerebellum	SCAN
rs3764327	FUS	cis	cerebellum	SCAN
rs3764327	YPEL3	cis	parietal	SCAN
rs3764327	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx
rs3764327	RABEP2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31265200-31276600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:31265800-31276400	Weak transcription	A549	lung
3	chr16:31269800-31277800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:31270400-31273800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr16:31270400-31275000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr16:31271000-31273200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr16:31271200-31276400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr16:31271400-31276000	Weak transcription	Fetal Thymus	thymus
9	chr16:31271800-31274200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr16:31271800-31274600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:31272000-31276400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:31272000-31276600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:31272000-31277000	Enhancers	Primary B cells from peripheral blood	blood
14	chr16:31272200-31274000	Weak transcription	GM12878-XiMat	blood
15	chr16:31272200-31274600	Weak transcription	Primary T cells from cord blood	blood
16	chr16:31272200-31274600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr16:31272200-31276400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:31272200-31276600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:31272200-31276600	Weak transcription	Spleen	Spleen
20	chr16:31272200-31276800	Weak transcription	Placenta	Placenta
21	chr16:31272200-31277000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:31272200-31277600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr16:31272400-31277400	Enhancers	Primary hematopoietic stem cells	blood
24	chr16:31272600-31273800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr16:31272600-31274600	Weak transcription	K562	blood
26	chr16:31272600-31276200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr16:31272600-31276600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:31272800-31273200	Enhancers	Adipose Nuclei	Adipose
29	chr16:31273000-31276200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr16:31273000-31277000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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