Variant report

Variant	rs58448590
Chromosome Location	chr8:68071209-68071210
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	chr8:68068690..68070292-chr8:68071142..68074042,2	K562	blood:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10504399	0.85[EUR][1000 genomes]
rs11557200	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986053	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986982	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988465	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992605	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997404	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12114202	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919053	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933138	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933139	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933147	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933160	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16933162	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933170	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933173	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933182	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16933190	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16933204	0.85[EUR][1000 genomes]
rs16933214	0.85[EUR][1000 genomes]
rs2168542	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290585	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2305672	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305673	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28547325	0.82[EUR][1000 genomes]
rs3779995	0.82[EUR][1000 genomes]
rs3780131	0.90[EUR][1000 genomes]
rs55662680	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55737416	0.90[EUR][1000 genomes]
rs55745066	0.95[EUR][1000 genomes]
rs55865037	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55983978	0.89[AFR][1000 genomes];0.82[AMR][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	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57867847	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58715460	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs59335949	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59634730	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59870074	0.81[EUR][1000 genomes]
rs60324950	0.90[EUR][1000 genomes]
rs60666237	0.82[EUR][1000 genomes]
rs60894518	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61193782	0.90[EUR][1000 genomes]
rs6982699	0.82[EUR][1000 genomes]
rs6984568	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984650	0.85[EUR][1000 genomes]
rs6987597	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987624	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990298	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6991974	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73691182	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691185	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691186	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691192	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691193	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73693135	0.84[EUR][1000 genomes]
rs73693152	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73693153	0.90[EUR][1000 genomes]
rs7461383	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812510	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7815863	0.82[EUR][1000 genomes]
rs7816827	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7819894	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7819895	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7822754	0.85[EUR][1000 genomes]
rs7824775	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833373	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834516	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7841884	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842770	0.82[EUR][1000 genomes]
rs7846677	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1846804	chr8:67995266-68074422	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1802127	chr8:67995266-68076723	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1022561	chr8:68011159-68129755	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1024156	chr8:68018110-68130602	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv539640	chr8:68018110-68130602	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1016128	chr8:68019177-68129755	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1028249	chr8:68022357-68127243	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1029236	chr8:68022357-68129755	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1020062	chr8:68022357-68135111	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1025996	chr8:68025803-68129755	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1019276	chr8:68026084-68130602	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv539641	chr8:68026084-68130602	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv1026508	chr8:68038761-68135111	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
2	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
3	chr8:67988200-68074800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:67990400-68074400	Weak transcription	Spleen	Spleen
5	chr8:67993400-68085000	Weak transcription	Aorta	Aorta
6	chr8:68021000-68074400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:68022800-68090800	Weak transcription	Small Intestine	intestine
8	chr8:68024200-68092400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:68026000-68074400	Weak transcription	Gastric	stomach
10	chr8:68028400-68074400	Weak transcription	Pancreas	Pancrea
11	chr8:68028600-68074400	Weak transcription	NHEK	skin
12	chr8:68029400-68074000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:68033800-68074400	Weak transcription	Colonic Mucosa	Colon
14	chr8:68036000-68074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:68036200-68071400	Weak transcription	Thymus	Thymus
16	chr8:68041200-68077800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:68045000-68073200	Weak transcription	HepG2	liver
18	chr8:68045800-68074200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:68046000-68074400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:68046400-68073200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:68046400-68074200	Weak transcription	Right Ventricle	heart
22	chr8:68046400-68074400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:68046600-68073800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:68046600-68074400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:68046600-68074400	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:68046600-68074400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:68046600-68074600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:68046800-68074000	Weak transcription	A549	lung
29	chr8:68046800-68074200	Weak transcription	Brain Angular Gyrus	brain
30	chr8:68046800-68074200	Weak transcription	HMEC	breast
31	chr8:68046800-68074400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:68046800-68076200	Weak transcription	HUVEC	blood vessel
33	chr8:68047200-68074000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:68047200-68074200	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:68047200-68074400	Weak transcription	Fetal Heart	heart
36	chr8:68047200-68074400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:68047200-68075400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:68047400-68073400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:68047400-68074400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:68047400-68074600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:68049800-68074000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:68050800-68073200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:68050800-68073400	Weak transcription	Fetal Brain Male	brain
44	chr8:68050800-68074000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:68050800-68074400	Weak transcription	Brain Substantia Nigra	brain
46	chr8:68050800-68074400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:68051000-68074200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:68051200-68074000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:68056800-68071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:68057000-68073200	Weak transcription	H1 Cell Line	embryonic stem cell

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