Variant report

Variant	rs8054602
Chromosome Location	chr16:71924084-71924085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr16:71923884-71925183	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71923118..71926504-chr16:71927692..71930407,4	K562	blood:
2	chr16:71916398..71918691-chr16:71923967..71926523,2	K562	blood:

Variant related genes	Relation type
IST1	TF binding region
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10500567	0.89[YRI][hapmap]
rs10852505	0.92[YRI][hapmap]
rs11075909	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11859593	1.00[EUR][1000 genomes]
rs11861316	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11863771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865439	1.00[EUR][1000 genomes]
rs11865456	0.87[YRI][hapmap]
rs11867138	1.00[EUR][1000 genomes]
rs13330881	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28421940	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28560350	1.00[AMR][1000 genomes]
rs28602614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28654218	1.00[AMR][1000 genomes]
rs2878494	0.92[YRI][hapmap]
rs35999277	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3751820	0.87[YRI][hapmap]
rs7187418	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188591	0.91[YRI][hapmap]
rs7193401	1.00[EUR][1000 genomes]
rs7197486	0.87[YRI][hapmap]
rs7198834	0.91[YRI][hapmap]
rs73574480	1.00[AMR][1000 genomes]
rs73578401	0.87[AMR][1000 genomes]
rs73586193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73588120	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73588121	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8050058	0.87[YRI][hapmap]
rs8050993	1.00[EUR][1000 genomes]
rs8051202	1.00[AMR][1000 genomes]
rs8051875	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8052358	0.91[YRI][hapmap]
rs9928364	1.00[AMR][1000 genomes]
rs9938542	1.00[AMR][1000 genomes]
rs9939404	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9940234	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71918600-71927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:71918800-71924200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr16:71919200-71924200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr16:71919200-71927800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:71919200-71927800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:71919200-71927800	Weak transcription	Liver	Liver
7	chr16:71919200-71927800	Weak transcription	Hela-S3	cervix
8	chr16:71919200-71928000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:71919400-71924200	Weak transcription	Placenta	Placenta
10	chr16:71919400-71924400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr16:71919600-71927600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr16:71919600-71927800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr16:71919800-71924200	Weak transcription	A549	lung
14	chr16:71919800-71927600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:71920000-71927600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr16:71922800-71924400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr16:71923600-71924800	Enhancers	HepG2	liver
18	chr16:71923800-71928200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:71924000-71924200	Enhancers	K562	blood
20	chr16:71924000-71924400	Weak transcription	H1 Cell Line	embryonic stem cell

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