Variant report

Variant	rs57195776
Chromosome Location	chr8:62940342-62940343
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	chr8:62938324..62940496-chr8:62944445..62947217,2	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10429390	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10504342	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504343	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1367927	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1367929	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16928148	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928158	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928164	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16928247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16928248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16928256	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928258	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928263	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16928265	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928270	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16928290	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928293	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16928294	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928311	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928313	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928321	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928323	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928335	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928339	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928355	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16928361	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2882580	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34021880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55713718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55897381	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56713214	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56718356	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56992608	0.81[ASN][1000 genomes]
rs56994025	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57344798	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57558807	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs57990135	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58082140	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58288894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58404717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58407334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58744393	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58847321	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58945141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59033591	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59171191	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59326992	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59442402	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59830726	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59883965	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60055232	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60375122	0.83[ASN][1000 genomes]
rs60575261	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60821971	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60927504	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61273498	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61345014	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61400215	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62507379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62507383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62507421	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62507422	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62507423	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62507424	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62507425	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62507428	0.81[ASN][1000 genomes]
rs62507431	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507433	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507435	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507436	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507437	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507438	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62507439	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508481	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508482	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508484	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508485	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62508486	0.81[ASN][1000 genomes]
rs62508487	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508488	0.81[ASN][1000 genomes]
rs62508494	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508495	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508496	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508501	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508502	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62508507	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62508508	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62508510	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62508511	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62508551	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62508559	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6983592	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990858	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991146	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991767	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6994588	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994900	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995443	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6995761	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7011407	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7012385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015631	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015943	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016381	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72664009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72664014	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72664028	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72664033	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72664035	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72664036	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73682666	0.81[ASN][1000 genomes]
rs73682684	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73682686	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73682687	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73682688	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7835277	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890951	chr8:62889169-62989464	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv890952	chr8:62898648-62989464	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv890953	chr8:62899559-62989464	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv890954	chr8:62919691-63023132	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv890955	chr8:62919691-63062581	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv520442	chr8:62928715-62962071	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62939600-62940600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:62939600-62940600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:62939600-62940800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:62939800-62940400	Active TSS	Fetal Brain Female	brain
5	chr8:62939800-62940600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr8:62939800-62941000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:62940000-62940400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:62940000-62940400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
9	chr8:62940000-62940400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr8:62940000-62940400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:62940000-62940400	Active TSS	Stomach Smooth Muscle	stomach
12	chr8:62940000-62940400	Flanking Bivalent TSS/Enh	HSMMtube	muscle
13	chr8:62940000-62940600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:62940000-62940600	Active TSS	Brain Anterior Caudate	brain
15	chr8:62940000-62940600	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr8:62940000-62940600	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr8:62940000-62940600	Enhancers	HSMM	muscle
18	chr8:62940000-62940800	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr8:62940000-62941000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:62940200-62940400	Flanking Active TSS	Fetal Stomach	stomach
21	chr8:62940200-62940400	Flanking Active TSS	NH-A	brain
22	chr8:62940200-62940600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:62940200-62940600	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr8:62940200-62940600	Flanking Active TSS	Fetal Brain Male	brain
25	chr8:62940200-62940800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:62940200-62940800	Enhancers	Fetal Muscle Leg	muscle
27	chr8:62940200-62941000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:62940200-62941000	Bivalent Enhancer	Brain Cingulate Gyrus	brain

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