Variant report

Variant	rs12566613
Chromosome Location	chr1:241989105-241989106
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241988599..241991404-chr1:241995097..241997500,3	K562	blood:
2	chr1:241983775..241986188-chr1:241988893..241991233,2	K562	blood:
3	chr1:241988238..241990297-chr1:241995533..241997207,2	K562	blood:
4	chr1:241938951..241940593-chr1:241988406..241990312,2	K562	blood:
5	chr1:241795192..241798178-chr1:241987807..241989667,2	K562	blood:
6	chr1:241980697..241983127-chr1:241987544..241989477,2	K562	blood:

Variant related genes	Relation type
ENSG00000229022	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10802995	0.96[ASN][1000 genomes]
rs10926581	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10926584	0.96[ASN][1000 genomes]
rs12067164	0.93[ASN][1000 genomes]
rs12081499	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12097431	0.93[ASN][1000 genomes]
rs12564134	0.92[ASN][1000 genomes]
rs12568909	0.92[ASN][1000 genomes]
rs12732589	0.81[AMR][1000 genomes]
rs12758149	0.96[ASN][1000 genomes]
rs12760000	0.96[ASN][1000 genomes]
rs1342872	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1342873	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17391502	0.93[ASN][1000 genomes]
rs2158509	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34619198	0.96[ASN][1000 genomes]
rs4658819	0.96[ASN][1000 genomes]
rs6429318	0.96[ASN][1000 genomes]
rs6668472	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66686558	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6702686	0.96[ASN][1000 genomes]
rs7513535	0.96[ASN][1000 genomes]
rs9287256	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	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
9	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv873373	chr1:241939069-242027500	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241981200-241992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:241985000-241992000	Weak transcription	Osteobl	bone
3	chr1:241985600-241990800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:241985600-241991800	Weak transcription	NHLF	lung
5	chr1:241985600-241992000	Weak transcription	NHDF-Ad	bronchial
6	chr1:241985800-241991800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:241987800-241992000	Weak transcription	K562	blood
8	chr1:241988800-241989200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:241988800-241989200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:241988800-241989600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:241989000-241989200	Enhancers	Left Ventricle	heart
12	chr1:241989000-241989200	Enhancers	HSMM	muscle
13	chr1:241989000-241989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:241989000-241989400	Enhancers	Colon Smooth Muscle	Colon
15	chr1:241989000-241989600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:241989000-241989800	Enhancers	Aorta	Aorta
17	chr1:241989000-241991800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:241989000-241992000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:241989000-241992400	Enhancers	Fetal Brain Male	brain

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