Variant report

Variant	rs1473205
Chromosome Location	chr16:58771451-58771452
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	chr16:58766806..58768382-chr16:58768885..58771530,2	K562	blood:
3	chr16:58766478..58768236-chr16:58771093..58774031,2	K562	blood:
4	chr16:58769989..58772148-chr16:58777618..58779296,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245768	Chromatin interaction
ENSG00000125166	Chromatin interaction
ENSG00000200424	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11076263	0.81[EUR][1000 genomes]
rs11646756	0.81[EUR][1000 genomes]
rs12325054	0.84[EUR][1000 genomes]
rs12325510	0.83[EUR][1000 genomes]
rs12598527	0.81[EUR][1000 genomes]
rs12600201	0.81[EUR][1000 genomes]
rs12600206	0.81[EUR][1000 genomes]
rs12935488	0.82[EUR][1000 genomes]
rs1364346	0.83[EUR][1000 genomes]
rs1424245	0.81[EUR][1000 genomes]
rs1473206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151817	0.90[EUR][1000 genomes]
rs1615326	0.86[EUR][1000 genomes]
rs1616798	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1627257	0.82[EUR][1000 genomes]
rs1628029	0.81[EUR][1000 genomes]
rs1646262	0.82[EUR][1000 genomes]
rs1646268	0.80[ASN][1000 genomes]
rs1646269	0.80[ASN][1000 genomes]
rs1646270	0.87[EUR][1000 genomes]
rs1646273	0.85[EUR][1000 genomes]
rs1646276	0.84[EUR][1000 genomes]
rs1646277	0.84[EUR][1000 genomes]
rs1646282	0.81[ASN][1000 genomes]
rs1646283	0.83[EUR][1000 genomes]
rs1646289	0.83[EUR][1000 genomes]
rs1646290	0.83[EUR][1000 genomes]
rs1657161	0.80[ASN][1000 genomes]
rs1657162	0.87[EUR][1000 genomes]
rs1657165	0.85[EUR][1000 genomes]
rs1657168	0.84[EUR][1000 genomes]
rs1657175	0.83[EUR][1000 genomes]
rs1657176	0.81[ASN][1000 genomes]
rs1657178	0.81[ASN][1000 genomes]
rs1657179	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs244919	0.90[EUR][1000 genomes]
rs257623	0.82[EUR][1000 genomes]
rs257625	0.82[EUR][1000 genomes]
rs257626	0.82[EUR][1000 genomes]
rs30843	0.88[EUR][1000 genomes]
rs4784977	0.82[ASN][1000 genomes]
rs62066815	0.83[EUR][1000 genomes]
rs62066843	0.82[EUR][1000 genomes]
rs7188608	0.81[ASN][1000 genomes]
rs982848	0.90[EUR][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1473205	GOT2	cis	Thyroid	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58768400-58773200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:58768600-58773000	Weak transcription	Fetal Intestine Large	intestine
3	chr16:58768600-58773000	Weak transcription	Fetal Intestine Small	intestine
4	chr16:58768600-58781000	Weak transcription	Colonic Mucosa	Colon
5	chr16:58768800-58771800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr16:58768800-58773000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:58768800-58773200	Weak transcription	Liver	Liver
8	chr16:58768800-58775400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr16:58769200-58773200	Weak transcription	HepG2	liver

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