Variant report

Variant	rs17813585
Chromosome Location	chr8:86159478-86159479
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	CUX1	chr8:86159383-86159679	K562	blood:	n/a	chr8:86159531-86159540
2	CUX1	chr8:86159347-86159634	GM12878	blood:	n/a	chr8:86159531-86159540

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86158140..86160236-chr8:86162041..86163568,2	K562	blood:

Variant related genes	Relation type
ENSG00000258256	TF binding region
ENSG00000257962	Chromatin interaction

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

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

rs_ID	r²[population]
rs17741049	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17741410	0.84[LWK][hapmap];0.87[YRI][hapmap]
rs17814075	0.85[YRI][hapmap]
rs17814255	0.82[LWK][hapmap];0.87[YRI][hapmap]
rs17814594	0.84[LWK][hapmap];0.87[YRI][hapmap]
rs2725295	0.85[YRI][hapmap]
rs4150863	0.88[EUR][1000 genomes]
rs4150895	0.87[CEU][hapmap];0.84[MKK][hapmap];0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4150896	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4150921	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs55701281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55702127	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56072918	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs56082812	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56174027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56366347	0.88[EUR][1000 genomes]
rs57271883	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59170491	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59712590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60087251	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60789842	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987314	1.00[EUR][1000 genomes]
rs6993321	0.85[EUR][1000 genomes]
rs73263504	1.00[ASN][1000 genomes]
rs73688688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73688691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73688699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73688702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][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	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2761441	chr8:86155592-86167129	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86158400-86172600	Weak transcription	Left Ventricle	heart
2	chr8:86158400-86174000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:86158400-86178200	Weak transcription	Small Intestine	intestine
4	chr8:86158400-86178200	Weak transcription	Stomach Mucosa	stomach
5	chr8:86158400-86179400	Weak transcription	Gastric	stomach
6	chr8:86158400-86180800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:86158400-86185800	Weak transcription	Lung	lung
8	chr8:86158400-86188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:86158400-86188200	Weak transcription	Esophagus	oesophagus
10	chr8:86158400-86191400	Weak transcription	Pancreas	Pancrea
11	chr8:86158800-86159600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:86158800-86159600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr8:86158800-86162000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:86158800-86163200	Weak transcription	Fetal Intestine Small	intestine
15	chr8:86158800-86167000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:86158800-86167200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:86158800-86171200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:86158800-86171200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:86158800-86172400	Weak transcription	Fetal Intestine Large	intestine
20	chr8:86158800-86179400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:86158800-86185600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:86158800-86185800	Weak transcription	Fetal Stomach	stomach
23	chr8:86158800-86186800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:86158800-86189600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:86158800-86191400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:86159000-86166600	Weak transcription	NHEK	skin
27	chr8:86159000-86171200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:86159200-86160000	Enhancers	HepG2	liver

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