Variant report

Variant	rs16933147
Chromosome Location	chr8:67959195-67959196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67951753..67953319-chr8:67958039..67959658,2	K562	blood:
2	chr8:67956271..67959247-chr8:67974283..67976279,3	K562	blood:
3	chr8:67957804..67959603-chr8:67964116..67966913,4	K562	blood:
4	chr8:67951753..67953892-chr8:67958158..67960620,2	K562	blood:
5	chr8:67956943..67960859-chr8:67972864..67975626,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10504399	0.85[EUR][1000 genomes]
rs11557200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986982	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988465	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990461	0.85[AMR][1000 genomes]
rs11992605	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997404	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114202	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919053	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933138	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933139	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933160	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16933162	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933170	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933173	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933182	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs16933190	0.95[EUR][1000 genomes]
rs16933204	0.85[EUR][1000 genomes]
rs16933214	0.85[EUR][1000 genomes]
rs2168542	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2290585	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2305672	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305673	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28547325	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3779995	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3780131	0.90[EUR][1000 genomes]
rs55662680	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55737416	0.90[EUR][1000 genomes]
rs55745066	0.95[EUR][1000 genomes]
rs55865037	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55983978	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs55986624	0.85[EUR][1000 genomes]
rs56101466	0.90[EUR][1000 genomes]
rs56858183	0.85[EUR][1000 genomes]
rs57101332	0.90[EUR][1000 genomes]
rs57867847	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58448590	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58715460	0.85[EUR][1000 genomes]
rs59335949	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59634730	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59870074	0.81[EUR][1000 genomes]
rs60324950	0.90[EUR][1000 genomes]
rs60666237	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60894518	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085456	0.85[AMR][1000 genomes]
rs61193782	0.90[EUR][1000 genomes]
rs6472289	0.85[AMR][1000 genomes]
rs6982699	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6984447	0.85[AMR][1000 genomes]
rs6984568	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6984650	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6987597	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987624	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990298	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6991974	0.90[EUR][1000 genomes]
rs73691182	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691185	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691192	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691193	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73693124	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693135	0.84[EUR][1000 genomes]
rs73693152	0.90[EUR][1000 genomes]
rs73693153	0.90[EUR][1000 genomes]
rs73693631	0.85[AMR][1000 genomes]
rs73693632	0.85[AMR][1000 genomes]
rs7461383	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812425	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812510	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7815142	0.85[AMR][1000 genomes]
rs7815863	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7816827	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819894	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7819895	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7820403	0.85[AMR][1000 genomes]
rs7822754	0.85[EUR][1000 genomes]
rs7824775	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833373	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834516	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7841884	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7842770	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7846677	0.85[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	esv1802652	chr8:67894007-67964309	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67941600-67963000	Weak transcription	Fetal Heart	heart
2	chr8:67946000-67959800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:67948400-67960000	Weak transcription	Gastric	stomach
4	chr8:67949800-67960000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:67951200-67959400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:67951800-67961400	Weak transcription	Right Ventricle	heart
7	chr8:67952000-67961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:67952200-67960000	Weak transcription	Pancreas	Pancrea
9	chr8:67952400-67973400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:67952600-67972000	Weak transcription	Stomach Mucosa	stomach
11	chr8:67952800-67962600	Weak transcription	Esophagus	oesophagus
12	chr8:67952800-67972000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:67952800-67973600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:67953000-67972800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:67953200-67966600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:67953400-67971600	Strong transcription	Fetal Intestine Large	intestine
17	chr8:67953600-67967000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:67953600-67971400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:67953600-67971600	Strong transcription	Liver	Liver
20	chr8:67953600-67971800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:67953600-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:67953600-67972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:67953800-67966000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr8:67953800-67971600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:67953800-67971800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:67953800-67971800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:67953800-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:67953800-67972200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:67953800-67972200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr8:67953800-67972400	Strong transcription	Placenta	Placenta
31	chr8:67953800-67972800	Strong transcription	Fetal Thymus	thymus
32	chr8:67954000-67965400	Strong transcription	Primary T cells from cord blood	blood
33	chr8:67954000-67971400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:67954000-67971800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr8:67954000-67972200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr8:67954200-67971600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:67954200-67972400	Strong transcription	Fetal Lung	lung
38	chr8:67954400-67959800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:67954400-67970600	Strong transcription	Brain Anterior Caudate	brain
40	chr8:67954400-67971400	Strong transcription	Dnd41	blood
41	chr8:67954400-67971600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr8:67954400-67971800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:67954400-67972200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:67954400-67972400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:67954600-67960000	Weak transcription	Psoas Muscle	Psoas
46	chr8:67954600-67966000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr8:67954600-67971200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:67954600-67971400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:67954600-67971400	Strong transcription	Brain Cingulate Gyrus	brain
50	chr8:67954600-67972000	Strong transcription	Adipose Nuclei	Adipose

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