Variant report

Variant	rs73696804
Chromosome Location	chr8:90837129-90837130
allele	A/G
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	MAFF	chr8:90836877-90837198	K562	blood:	n/a	chr8:90837020-90837038
2	TEAD4	chr8:90836794-90837152	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr8:90836666-90837230	HepG2	liver:	n/a	n/a
4	TEAD4	chr8:90836359-90837183	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr8:90836711-90837239	HepG2	liver:	n/a	chr8:90837021-90837036
6	MAFK	chr8:90836823-90837322	H1-hESC	embryonic stem cell:	n/a	chr8:90837021-90837036
7	HNF4A	chr8:90836809-90837139	HepG2	liver:	n/a	chr8:90836928-90836943
8	MAX	chr8:90836743-90837156	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAFK	chr8:90836845-90837187	K562	blood:	n/a	chr8:90837021-90837036
10	RFX5	chr8:90836797-90837145	HepG2	liver:	n/a	n/a
11	USF1	chr8:90836799-90837134	H1-hESC	embryonic stem cell:	n/a	chr8:90836987-90836998
12	USF1	chr8:90836749-90837133	H1-hESC	embryonic stem cell:	n/a	chr8:90836987-90836998
13	MXI1	chr8:90836636-90837151	HepG2	liver:	n/a	n/a
14	MAFK	chr8:90836862-90837192	IMR90	lung:	n/a	chr8:90837021-90837036
15	MAFF	chr8:90836817-90837279	HepG2	liver:	n/a	chr8:90837020-90837038
16	MAFK	chr8:90836741-90837261	HepG2	liver:	n/a	chr8:90837021-90837036
17	POLR2A	chr8:90836689-90837169	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90824515..90827081-chr8:90836313..90840458,3	MCF-7	breast:
2	chr8:90835014..90836804-chr8:90836875..90838600,2	K562	blood:
3	chr8:90836699..90839189-chr8:90853198..90855476,2	MCF-7	breast:

Variant related genes	Relation type
COX6B1P6	TF binding region
ENSG00000253349	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16900442	0.83[AMR][1000 genomes]
rs16900823	1.00[AMR][1000 genomes]
rs16900885	1.00[AMR][1000 genomes]
rs16900910	1.00[AMR][1000 genomes]
rs16900915	1.00[AMR][1000 genomes]
rs16900927	1.00[AMR][1000 genomes]
rs16900928	1.00[AMR][1000 genomes]
rs16900996	1.00[AMR][1000 genomes]
rs56180983	1.00[AMR][1000 genomes]
rs56729468	1.00[AMR][1000 genomes]
rs59398315	1.00[AMR][1000 genomes]
rs59483185	1.00[AMR][1000 genomes]
rs61138709	1.00[AMR][1000 genomes]
rs61327386	1.00[AMR][1000 genomes]
rs73694500	0.83[AMR][1000 genomes]
rs73696806	1.00[AMR][1000 genomes]
rs73696812	1.00[AMR][1000 genomes]
rs73696816	1.00[AMR][1000 genomes]
rs73696819	1.00[AMR][1000 genomes]
rs73696820	1.00[AMR][1000 genomes]
rs73696821	1.00[AMR][1000 genomes]
rs7819919	1.00[AMR][1000 genomes]
rs7822697	1.00[AMR][1000 genomes]
rs7835597	0.83[AMR][1000 genomes]
rs966597	1.00[AMR][1000 genomes]
rs9785090	1.00[AMR][1000 genomes]
rs9969533	1.00[AMR][1000 genomes]

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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv520356	chr8:90823687-90857989	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv968495	chr8:90835687-90842298	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90828000-90845800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:90836400-90837200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:90836400-90837200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:90836400-90837200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr8:90836400-90837800	Enhancers	Fetal Intestine Large	intestine
6	chr8:90836600-90837200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:90836600-90837200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:90836600-90837200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:90836600-90837200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:90836600-90837200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:90836600-90837200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:90836600-90837200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:90836600-90837400	Enhancers	Fetal Intestine Small	intestine
14	chr8:90836600-90837400	Flanking Active TSS	HepG2	liver
15	chr8:90836600-90837600	Enhancers	Stomach Mucosa	stomach
16	chr8:90836800-90837200	ZNF genes & repeats	Pancreas	Pancrea
17	chr8:90836800-90837600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:90836800-90838200	Enhancers	A549	lung
19	chr8:90836800-90838400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:90836800-90839000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:90837000-90837400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:90837000-90837800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:90837000-90838200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:90837000-90838200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:90837000-90838200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:90837000-90839000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:90837000-90847600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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