Variant report

Variant	rs16893097
Chromosome Location	chr4:16156964-16156965
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16151157..16153804-chr4:16155728..16157326,2	K562	blood:
2	chr4:16150924..16154971-chr4:16155826..16158678,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1621739	0.83[ASN][1000 genomes]
rs1625980	0.96[ASN][1000 genomes]
rs1662651	0.83[ASN][1000 genomes]
rs1662653	0.83[ASN][1000 genomes]
rs16893115	0.96[AFR][1000 genomes]
rs16893153	0.89[EUR][1000 genomes]
rs28395234	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28427433	0.83[ASN][1000 genomes]
rs28483204	0.88[EUR][1000 genomes]
rs28516589	0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs28619251	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28670993	0.92[EUR][1000 genomes]
rs317852	0.83[ASN][1000 genomes]
rs317861	0.96[ASN][1000 genomes]
rs317864	0.96[ASN][1000 genomes]
rs4501221	0.83[ASN][1000 genomes]
rs4635814	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55949632	0.88[EUR][1000 genomes]
rs56106162	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56407903	0.80[EUR][1000 genomes]
rs73232596	0.80[EUR][1000 genomes]
rs73232598	0.80[EUR][1000 genomes]
rs73232601	0.80[EUR][1000 genomes]
rs73234625	0.94[EUR][1000 genomes]
rs73234629	0.92[EUR][1000 genomes]
rs73234637	0.91[EUR][1000 genomes]
rs73234642	0.92[EUR][1000 genomes]
rs73234644	0.92[EUR][1000 genomes]
rs73234648	0.91[EUR][1000 genomes]
rs73234651	0.92[EUR][1000 genomes]
rs73234656	0.88[EUR][1000 genomes]
rs73234660	0.82[EUR][1000 genomes]
rs7359	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs7668729	1.00[CHB][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs9946	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9996261	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16893097	OTOR	trans	parietal	SCAN
rs16893097	MED28	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16150200-16160800	Weak transcription	Primary B cells from cord blood	blood
2	chr4:16150800-16166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:16151600-16158000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:16152000-16161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:16152000-16163800	Weak transcription	Thymus	Thymus
6	chr4:16152800-16159800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:16153000-16163600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:16153000-16164400	Weak transcription	NH-A	brain
9	chr4:16153200-16165200	Weak transcription	HSMM	muscle
10	chr4:16153400-16157200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:16153600-16165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:16154000-16159600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:16154400-16161600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:16154400-16163000	Weak transcription	Primary T cells from cord blood	blood
15	chr4:16154800-16161800	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:16154800-16164400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:16155600-16157800	Enhancers	Fetal Muscle Leg	muscle
18	chr4:16156000-16159200	Weak transcription	Lung	lung
19	chr4:16156000-16163200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:16156200-16157400	Weak transcription	Right Ventricle	heart

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