Variant report

Variant	rs61826017
Chromosome Location	chr1:242097402-242097403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242082251..242084626-chr1:242095410..242097827,2	K562	blood:
2	chr1:242096785..242098721-chr1:242103500..242105954,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs28411913	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3863737	0.99[EUR][1000 genomes]
rs3908148	0.99[EUR][1000 genomes]
rs3908149	0.99[EUR][1000 genomes]
rs56205249	0.99[EUR][1000 genomes]
rs58149898	0.97[EUR][1000 genomes]
rs61826018	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61826019	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61826020	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61826021	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61826022	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61826023	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61826025	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61826035	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61826036	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61826037	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61826042	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61826043	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61826044	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv873374	chr1:241975147-242097624	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1008886	chr1:242015591-242176983	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2750830	chr1:242025098-242303357	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv2750831	chr1:242025098-242332959	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1002309	chr1:242042242-242295635	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242096000-242098600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:242096000-242098800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:242096200-242098600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:242096600-242098200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:242097000-242097600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:242097000-242098200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:242097000-242098600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:242097200-242097600	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr1:242097200-242097600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:242097200-242097600	Enhancers	Ovary	ovary
11	chr1:242097200-242098000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:242097200-242098200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:242097200-242098400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:242097200-242098600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:242097400-242097600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:242097400-242097600	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr1:242097400-242097600	Weak transcription	Right Atrium	heart
18	chr1:242097400-242097600	Enhancers	NHDF-Ad	bronchial
19	chr1:242097400-242097800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:242097400-242097800	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr1:242097400-242097800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr1:242097400-242097800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr1:242097400-242098000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr1:242097400-242098000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:242097400-242098200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:242097400-242098200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:242097400-242098400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:242097400-242098400	Enhancers	NH-A	brain
29	chr1:242097400-242098600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:242097400-242098600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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