Variant report

Variant	rs60148169
Chromosome Location	chr8:35583243-35583244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs55939700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55941225	0.85[AFR][1000 genomes]
rs55949471	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56114419	0.97[AFR][1000 genomes]
rs56131202	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56216087	0.83[AMR][1000 genomes]
rs56274851	0.89[AFR][1000 genomes]
rs56298617	1.00[AMR][1000 genomes]
rs56385636	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57529054	0.86[AFR][1000 genomes]
rs57959385	1.00[AMR][1000 genomes]
rs58638685	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59056946	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59081997	0.89[AFR][1000 genomes]
rs59087360	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59352631	1.00[AMR][1000 genomes]
rs59424516	0.89[AFR][1000 genomes]
rs60045242	0.86[AFR][1000 genomes]
rs60257165	1.00[AFR][1000 genomes]
rs60455013	0.86[AFR][1000 genomes]
rs60855337	0.94[AFR][1000 genomes]
rs61067704	0.89[AFR][1000 genomes]
rs61113233	0.97[AFR][1000 genomes]
rs61113752	0.83[AMR][1000 genomes]
rs61506285	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61520251	0.86[AFR][1000 genomes]
rs73576270	0.89[AFR][1000 genomes]
rs73583031	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583060	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73584827	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584829	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73584830	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586705	0.97[AFR][1000 genomes]
rs73586711	0.87[AFR][1000 genomes]
rs73586719	0.97[AFR][1000 genomes]
rs73671916	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73674086	0.83[AMR][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	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
2	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
3	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv831285	chr8:35485874-35648117	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2754662	chr8:35558658-35648958	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1032540	chr8:35565491-35949132	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35575000-35587400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:35575000-35600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:35576000-35631600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:35576200-35583400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:35576600-35586000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:35577000-35587800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:35578200-35583400	Weak transcription	Small Intestine	intestine
8	chr8:35579200-35583400	Weak transcription	Stomach Mucosa	stomach
9	chr8:35579600-35584600	Strong transcription	Fetal Brain Female	brain
10	chr8:35580800-35585400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:35581000-35583800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:35581800-35583600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:35581800-35583600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:35582000-35640600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:35582200-35583600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:35582200-35583800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:35582200-35590400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:35582600-35583400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:35582600-35583400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:35582600-35583400	Enhancers	Fetal Lung	lung
21	chr8:35583000-35583400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:35583000-35583400	Enhancers	Duodenum Mucosa	Duodenum
23	chr8:35583000-35583400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:35583000-35583600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:35583000-35586200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:35583200-35583400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:35583200-35584200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:35583200-35589200	Weak transcription	Fetal Kidney	kidney

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