Variant report

Variant	rs4788448
Chromosome Location	chr16:71921979-71921980
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71920316..71923113-chr16:71924273..71926180,2	K562	blood:
2	chr16:71878378..71882676-chr16:71918678..71922110,3	K562	blood:
3	chr16:71917473..71919754-chr16:71920669..71923962,3	K562	blood:
4	chr16:71916989..71918973-chr16:71920190..71922169,2	K562	blood:

Variant related genes	Relation type
ENSG00000182149	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000102984	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1035543	0.85[EUR][1000 genomes]
rs12597418	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12598902	0.81[AFR][1000 genomes]
rs12600153	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12600163	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13332113	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13332180	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13337118	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1834033	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2291947	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34111614	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4538017	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788567	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4788572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788574	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788578	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55702379	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56309616	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60075093	0.86[EUR][1000 genomes]
rs60740701	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7350856	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs952159	0.88[EUR][1000 genomes]
rs952160	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9889100	0.82[EUR][1000 genomes]
rs9925441	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9925684	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9936965	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9937626	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71918600-71923600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:71918600-71927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:71918800-71924200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr16:71919200-71924200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr16:71919200-71927800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:71919200-71927800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:71919200-71927800	Weak transcription	Liver	Liver
8	chr16:71919200-71927800	Weak transcription	Hela-S3	cervix
9	chr16:71919200-71928000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr16:71919400-71922800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr16:71919400-71924200	Weak transcription	Placenta	Placenta
12	chr16:71919400-71924400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr16:71919600-71924000	Weak transcription	K562	blood
14	chr16:71919600-71927600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr16:71919600-71927800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:71919800-71923600	Weak transcription	HepG2	liver
17	chr16:71919800-71924200	Weak transcription	A549	lung
18	chr16:71919800-71927600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:71920000-71927600	Weak transcription	Duodenum Mucosa	Duodenum

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