Variant report

Variant	rs60290674
Chromosome Location	chr8:34764813-34764814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10086581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087159	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10092592	1.00[EUR][1000 genomes]
rs10096301	1.00[EUR][1000 genomes]
rs10096449	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10101460	1.00[EUR][1000 genomes]
rs10102567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10107819	1.00[EUR][1000 genomes]
rs10111345	1.00[EUR][1000 genomes]
rs11985581	1.00[EUR][1000 genomes]
rs11990228	0.90[EUR][1000 genomes]
rs16883225	0.90[EUR][1000 genomes]
rs16883229	0.90[EUR][1000 genomes]
rs17249093	0.90[EUR][1000 genomes]
rs28370409	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28432762	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28450254	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28485573	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28496972	1.00[EUR][1000 genomes]
rs28503874	1.00[EUR][1000 genomes]
rs28525412	1.00[EUR][1000 genomes]
rs28536669	1.00[EUR][1000 genomes]
rs28556575	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28623761	1.00[EUR][1000 genomes]
rs28787088	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28875276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56228324	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57341113	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57519708	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58743779	0.90[EUR][1000 genomes]
rs60838421	0.90[EUR][1000 genomes]
rs61293092	1.00[EUR][1000 genomes]
rs61499746	0.90[EUR][1000 genomes]
rs6468295	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989444	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990512	1.00[EUR][1000 genomes]
rs6995738	1.00[EUR][1000 genomes]
rs6999531	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003487	0.90[EUR][1000 genomes]
rs7011097	1.00[EUR][1000 genomes]
rs7014562	0.83[EUR][1000 genomes]
rs7813448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813623	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7816316	1.00[EUR][1000 genomes]
rs7818107	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818290	1.00[EUR][1000 genomes]
rs7818422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7826595	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829892	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837932	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845212	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693375	chr8:34631970-34780509	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv972208	chr8:34644254-34790092	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv890716	chr8:34707436-34822797	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34762200-34766400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:34762400-34766800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:34763200-34765400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:34763200-34766200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:34763200-34768000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:34763400-34766600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:34763600-34765400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:34763800-34766200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:34763800-34769000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:34764000-34765000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:34764000-34765400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:34764000-34765800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:34764200-34765200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:34764400-34765000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:34764400-34765200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:34764400-34765800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:34764600-34765200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:34764600-34765200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:34764600-34765200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:34764600-34766200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr8:34764800-34765400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr8:34764800-34766400	Enhancers	HUES6 Cell Line	embryonic stem cell

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