Variant report

Variant	rs73269199
Chromosome Location	chr8:95841713-95841714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95834990..95838474-chr8:95840154..95845395,5	K562	blood:

Variant related genes	Relation type
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10956927	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774806	0.93[ASN][1000 genomes]
rs11775475	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775899	0.82[EUR][1000 genomes]
rs11776131	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776489	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776687	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777132	0.92[EUR][1000 genomes]
rs11777353	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778250	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779041	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779252	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11781099	0.93[ASN][1000 genomes]
rs11781188	0.90[ASN][1000 genomes]
rs11781429	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781712	0.96[EUR][1000 genomes]
rs11781843	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782617	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11783522	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11783589	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784299	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786021	0.93[ASN][1000 genomes]
rs11786088	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786389	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786429	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786451	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787377	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787442	0.93[ASN][1000 genomes]
rs12056517	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12056808	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16893774	0.92[EUR][1000 genomes]
rs16917079	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917081	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917082	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917093	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16917102	0.81[EUR][1000 genomes]
rs16917117	0.82[EUR][1000 genomes]
rs17359493	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28399553	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28399563	0.92[EUR][1000 genomes]
rs28399571	0.89[EUR][1000 genomes]
rs4073916	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075834	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345531	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4355737	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57063661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57773845	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489999	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58675831	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59091366	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59265059	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59521030	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60171840	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986418	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989591	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009940	0.80[EUR][1000 genomes]
rs73269162	0.93[ASN][1000 genomes]
rs73269170	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73269188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269191	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269198	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271148	0.97[EUR][1000 genomes]
rs73271178	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7834966	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95836200-95846000	Weak transcription	Lung	lung
2	chr8:95836600-95848200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:95836800-95845000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:95836800-95847000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:95836800-95850800	Weak transcription	HSMMtube	muscle
6	chr8:95836800-95866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:95836800-95874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:95837000-95846000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:95837000-95849800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:95837200-95845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:95837400-95846800	Weak transcription	Stomach Mucosa	stomach
13	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:95837600-95843200	Weak transcription	Small Intestine	intestine
15	chr8:95837600-95850600	Weak transcription	Fetal Brain Male	brain
16	chr8:95837600-95869800	Weak transcription	Psoas Muscle	Psoas
17	chr8:95838200-95845200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:95838600-95844200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:95838600-95860400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:95838800-95844600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:95838800-95845000	Strong transcription	K562	blood
23	chr8:95838800-95876000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:95839400-95841800	Strong transcription	Brain Hippocampus Middle	brain
25	chr8:95839400-95842000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:95839400-95842800	Strong transcription	HSMM	muscle
27	chr8:95839400-95843000	Strong transcription	HUVEC	blood vessel
28	chr8:95839400-95843000	Strong transcription	NHEK	skin
29	chr8:95839400-95844000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr8:95839400-95844000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:95839400-95844400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr8:95839400-95844400	Strong transcription	Fetal Intestine Large	intestine
33	chr8:95839400-95844800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr8:95839400-95845200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:95839400-95845200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:95839400-95845800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr8:95839400-95847400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:95839400-95847800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:95839400-95848000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:95839400-95854800	Strong transcription	Fetal Thymus	thymus
41	chr8:95839400-95857800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:95839400-95859600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:95839400-95872200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr8:95839400-95872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:95839400-95872400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:95839400-95872400	Strong transcription	Dnd41	blood
47	chr8:95839400-95872600	Strong transcription	Liver	Liver
48	chr8:95839400-95872600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:95839600-95842000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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