Variant report

Variant	rs16900910
Chromosome Location	chr8:90838203-90838204
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	chr8:90838102-90838802	K562	blood:	n/a	n/a
2	RELA	chr8:90838199-90839365	GM12891	blood:	n/a	chr8:90838593-90838602 chr8:90838593-90838602
3	BRCA1	chr8:90838179-90838327	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:90838105-90838469	U87	brain:	n/a	n/a
5	POLR2A	chr8:90837963-90838752	U87	brain:	n/a	n/a
6	ZNF384	chr8:90838152-90838868	GM12878	blood:	n/a	n/a
7	GATA3	chr8:90838161-90839200	SK-N-SH	brain:	n/a	chr8:90838470-90838480
8	TCF12	chr8:90838026-90839203	SK-N-SH	brain:	n/a	chr8:90838761-90838770
9	POLR2A	chr8:90837963-90838633	U87	brain:	n/a	n/a
10	RELA	chr8:90838121-90838982	GM12878	blood:	n/a	chr8:90838593-90838602 chr8:90838593-90838602
11	RFX5	chr8:90837585-90838692	IMR90	lung:	n/a	n/a
12	EP300	chr8:90838176-90838632	GM12878	blood:	n/a	chr8:90838472-90838481 chr8:90838468-90838482

No.	Distal block	Cell Line	Cell type
1	chr8:90824515..90827081-chr8:90836313..90840458,3	MCF-7	breast:
2	chr8:90835454..90837187-chr8:90837338..90840296,2	MCF-7	breast:
3	chr8:90835014..90836804-chr8:90836875..90838600,2	K562	blood:
4	chr8:90836699..90839189-chr8:90853198..90855476,2	MCF-7	breast:
5	chr8:90838136..90841638-chr8:90842560..90845111,3	K562	blood:

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

Extended variants
information (count: 33 )
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[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16900915	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16900927	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16900928	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16900996	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56180983	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56729468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59398315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59483185	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61138709	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61327386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694500	0.83[AMR][1000 genomes]
rs73696804	1.00[AMR][1000 genomes]
rs73696806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696816	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696821	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7819919	0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7822697	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7835597	0.83[AMR][1000 genomes]
rs966597	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9785090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9969533	0.81[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv2761448	chr8:90837630-90853986	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 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	chr8:90836800-90838400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:90836800-90839000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:90837000-90839000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:90837000-90847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:90837200-90838400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:90837200-90844600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:90837400-90838400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:90837600-90839200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:90837800-90839000	Weak transcription	HepG2	liver
11	chr8:90837800-90839200	Enhancers	GM12878-XiMat	blood
12	chr8:90837800-90839200	Enhancers	Osteobl	bone
13	chr8:90838000-90838600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:90838000-90839000	Enhancers	Stomach Mucosa	stomach
15	chr8:90838000-90839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:90838000-90841000	Enhancers	NHDF-Ad	bronchial
17	chr8:90838200-90838400	Enhancers	Pancreas	Pancrea
18	chr8:90838200-90838600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:90838200-90838600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:90838200-90838600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:90838200-90839000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:90838200-90839000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:90838200-90839000	Flanking Active TSS	A549	lung
24	chr8:90838200-90839000	Enhancers	NH-A	brain

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