Variant report

Variant	rs55701281
Chromosome Location	chr8:86170740-86170741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86169089..86170880-chr8:86174398..86176790,2	K562	blood:
2	chr8:86170519..86173141-chr8:86177699..86180911,3	K562	blood:
3	chr8:86166893..86168765-chr8:86170470..86172602,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17741049	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17813585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4150863	0.83[EUR][1000 genomes]
rs4150895	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4150896	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4150921	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs55702127	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56072918	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56082812	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56174027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56366347	0.83[EUR][1000 genomes]
rs57271883	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59170491	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59712590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60087251	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60789842	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6987314	0.94[EUR][1000 genomes]
rs6993321	0.91[EUR][1000 genomes]
rs73688688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73688691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73688699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73688702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 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	chr8:86158800-86171200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:86158800-86171200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:86158800-86172400	Weak transcription	Fetal Intestine Large	intestine
14	chr8:86158800-86179400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:86158800-86185600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:86158800-86185800	Weak transcription	Fetal Stomach	stomach
17	chr8:86158800-86186800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:86158800-86189600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:86158800-86191400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:86159000-86171200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:86160000-86172600	Weak transcription	HepG2	liver
22	chr8:86161200-86171200	Weak transcription	Primary B cells from cord blood	blood
23	chr8:86162600-86171600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:86167400-86174400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:86167600-86178800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:86167600-86182600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:86167800-86171200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:86167800-86172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:86167800-86185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:86168000-86171200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:86168000-86174400	Weak transcription	GM12878-XiMat	blood
32	chr8:86168000-86187800	Weak transcription	HMEC	breast
33	chr8:86168000-86196200	Weak transcription	NHEK	skin
34	chr8:86168000-86199000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:86168200-86174000	Weak transcription	Fetal Intestine Small	intestine
36	chr8:86169400-86179800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:86169600-86180800	Weak transcription	Fetal Lung	lung
38	chr8:86170600-86171400	Enhancers	K562	blood
39	chr8:86170600-86172400	Weak transcription	Liver	Liver
40	chr8:86170600-86191800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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