Variant report

Variant	rs59395166
Chromosome Location	chr8:110236374-110236375
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110234924..110237282-chr8:110242100..110245071,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs16879261	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879277	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16879288	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16879296	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs16879302	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs16879319	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1993593	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4489305	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs58645331	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59606309	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59943608	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60785810	1.00[ASN][1000 genomes]
rs61245151	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61479312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66514810	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66540106	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66582255	1.00[ASN][1000 genomes]
rs66595116	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66597282	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66850941	1.00[ASN][1000 genomes]
rs66894192	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66993652	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67013559	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67022633	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67131445	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67145203	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67220317	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67285523	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67650612	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67741834	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67743002	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67793872	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67919153	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67974558	0.94[ASN][1000 genomes]
rs68134891	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990184	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6994530	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680756	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682635	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72682688	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73303253	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303256	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73311376	1.00[ASN][1000 genomes]
rs73311383	0.94[ASN][1000 genomes]
rs73311385	1.00[ASN][1000 genomes]
rs73311386	1.00[ASN][1000 genomes]
rs73311387	1.00[ASN][1000 genomes]
rs73311394	1.00[ASN][1000 genomes]
rs73311400	1.00[ASN][1000 genomes]
rs73313204	1.00[ASN][1000 genomes]
rs7817013	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7823896	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023204	chr8:110169573-110303085	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1031663	chr8:110177432-110303085	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891272	chr8:110217266-110268104	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv891274	chr8:110224047-110308776	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891275	chr8:110224047-110319234	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891276	chr8:110232329-110308776	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3479819	chr8:110232776-110236974	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110191400-110237400	Weak transcription	Left Ventricle	heart
2	chr8:110211200-110311600	Weak transcription	Right Ventricle	heart
3	chr8:110225800-110241800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:110230400-110241000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:110231000-110238600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:110231400-110236800	Weak transcription	Ovary	ovary
7	chr8:110231800-110237400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:110231800-110242200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:110233600-110239000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:110233800-110237400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:110234200-110237400	Weak transcription	Pancreas	Pancrea
12	chr8:110234200-110241200	Weak transcription	HUVEC	blood vessel
13	chr8:110234400-110237400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:110234600-110237400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:110234600-110240400	Weak transcription	HMEC	breast
16	chr8:110234800-110238000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:110234800-110264200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:110235000-110237400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:110235000-110239000	Weak transcription	Liver	Liver
20	chr8:110235000-110239800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:110235000-110240600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:110235000-110251000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:110235200-110237000	Weak transcription	Adipose Nuclei	Adipose
24	chr8:110235200-110241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:110235400-110237200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:110235400-110238600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:110235400-110271400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:110235400-110275000	Weak transcription	Fetal Brain Male	brain
29	chr8:110235600-110237800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr8:110235600-110244000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:110235800-110236600	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr8:110235800-110237200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:110235800-110238200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:110235800-110238200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr8:110235800-110238200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr8:110235800-110238200	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr8:110235800-110239400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:110235800-110240400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:110235800-110241000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:110235800-110251200	Weak transcription	Fetal Intestine Large	intestine
41	chr8:110235800-110252600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:110236000-110236400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:110236000-110236600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr8:110236000-110237600	Strong transcription	A549	lung
45	chr8:110236000-110264200	Weak transcription	Spleen	Spleen
46	chr8:110236000-110265400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:110236200-110236600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:110236200-110237000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:110236200-110237000	ZNF genes & repeats	HSMM	muscle
50	chr8:110236200-110239000	Weak transcription	Dnd41	blood

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