Variant report

Variant	rs1616798
Chromosome Location	chr16:58773337-58773338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:58768371..58769991-chr16:58770369..58773348,2	K562	blood:
2	chr16:58766718..58769266-chr16:58773136..58775589,3	K562	blood:
3	chr16:58772609..58775290-chr16:58778286..58780239,2	K562	blood:
4	chr16:58766478..58768236-chr16:58771093..58774031,2	K562	blood:

Variant related genes	Relation type
ENSG00000245768	Chromatin interaction
ENSG00000125166	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11076262	0.83[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap]
rs11076263	0.87[EUR][1000 genomes]
rs11646756	0.87[EUR][1000 genomes]
rs12325054	0.90[EUR][1000 genomes]
rs12325510	0.89[EUR][1000 genomes]
rs12595974	0.96[CEU][hapmap]
rs12596434	0.83[EUR][1000 genomes]
rs12598527	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs12600201	0.96[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs12600206	0.96[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs12928733	0.83[EUR][1000 genomes]
rs12935488	0.88[EUR][1000 genomes]
rs1364346	0.89[EUR][1000 genomes]
rs1473205	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473206	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151817	0.84[EUR][1000 genomes]
rs1595181	0.83[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap]
rs1615326	0.96[CEU][hapmap];0.95[GIH][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs1616072	0.87[JPT][hapmap]
rs1627257	0.88[EUR][1000 genomes]
rs1628029	0.87[EUR][1000 genomes]
rs1646262	0.88[EUR][1000 genomes]
rs1646268	0.80[ASN][1000 genomes]
rs1646269	0.80[ASN][1000 genomes]
rs1646270	0.93[EUR][1000 genomes]
rs1646273	0.91[EUR][1000 genomes]
rs1646276	0.90[EUR][1000 genomes]
rs1646277	0.90[EUR][1000 genomes]
rs1646282	0.81[ASN][1000 genomes]
rs1646283	0.89[EUR][1000 genomes]
rs1646289	0.89[EUR][1000 genomes]
rs1646290	0.89[EUR][1000 genomes]
rs1657161	0.80[ASN][1000 genomes]
rs1657162	0.93[EUR][1000 genomes]
rs1657165	0.91[EUR][1000 genomes]
rs1657168	0.90[EUR][1000 genomes]
rs1657175	0.89[EUR][1000 genomes]
rs1657176	0.81[ASN][1000 genomes]
rs1657178	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1657179	0.89[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];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185397	0.91[CHD][hapmap]
rs1865836	0.87[JPT][hapmap]
rs244919	0.84[EUR][1000 genomes]
rs257616	0.91[CHD][hapmap]
rs257620	0.91[CHD][hapmap]
rs257621	0.81[JPT][hapmap]
rs257623	0.88[EUR][1000 genomes]
rs257625	0.88[EUR][1000 genomes]
rs257626	0.88[EUR][1000 genomes]
rs30843	0.82[EUR][1000 genomes]
rs36098613	0.83[EUR][1000 genomes]
rs4499224	0.86[JPT][hapmap]
rs4784977	0.82[ASN][1000 genomes]
rs4784987	0.81[EUR][1000 genomes]
rs62064940	0.84[EUR][1000 genomes]
rs62066381	0.84[EUR][1000 genomes]
rs62066382	0.81[EUR][1000 genomes]
rs62066815	0.89[EUR][1000 genomes]
rs62066843	0.88[EUR][1000 genomes]
rs6416775	0.81[EUR][1000 genomes]
rs6499974	0.84[JPT][hapmap]
rs6499976	0.87[JPT][hapmap]
rs7185513	0.84[EUR][1000 genomes]
rs7188608	0.81[ASN][1000 genomes]
rs727484	0.87[JPT][hapmap]
rs8049572	0.83[EUR][1000 genomes]
rs982848	0.84[EUR][1000 genomes]
rs9937713	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	n/a
4	nsv1065269	chr16:58743487-58972224	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1616798	IRX5	cis	cerebellum	SCAN
rs1616798	GOT2	cis	Thyroid	GTEx
rs1616798	GOT2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58768600-58781000	Weak transcription	Colonic Mucosa	Colon
2	chr16:58768800-58775400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr16:58773000-58773800	Enhancers	Fetal Intestine Large	intestine
4	chr16:58773000-58773800	Enhancers	Fetal Intestine Small	intestine
5	chr16:58773000-58774000	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr16:58773200-58773400	Enhancers	Liver	Liver
7	chr16:58773200-58773600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr16:58773200-58774400	Enhancers	HepG2	liver

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