Variant report

Variant	rs660813
Chromosome Location	chr1:212699377-212699378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212698488..212700522-chr1:212782104..212785577,3	K562	blood:
2	chr1:212694260..212697495-chr1:212698581..212701408,3	K562	blood:
3	chr1:212698264..212699988-chr1:212781898..212784520,2	K562	blood:
4	chr1:212694260..212696447-chr1:212698581..212701074,2	K562	blood:
5	chr1:212687310..212689846-chr1:212695967..212699890,3	K562	blood:
6	chr1:212697785..212700153-chr1:212711709..212713323,2	K562	blood:
7	chr1:212690794..212693307-chr1:212697888..212699429,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs484529	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs516748	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs556847	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs580961	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs585428	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs599028	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs631569	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs635822	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6702959	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
7	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212688600-212699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:212689200-212699800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:212692600-212700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:212698000-212699800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:212698200-212699600	Enhancers	Osteobl	bone
6	chr1:212698200-212699800	Enhancers	Placenta	Placenta
7	chr1:212698400-212699600	Enhancers	Right Atrium	heart
8	chr1:212698400-212699600	Enhancers	Right Ventricle	heart
9	chr1:212698400-212699800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:212698400-212699800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:212698400-212699800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:212698400-212699800	Enhancers	Left Ventricle	heart
13	chr1:212698400-212699800	Enhancers	HMEC	breast
14	chr1:212698600-212699800	Bivalent Enhancer	NHEK	skin
15	chr1:212698800-212699600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:212698800-212699800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:212698800-212699800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:212699000-212699400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:212699000-212699600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:212699000-212699600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:212699000-212699600	Bivalent Enhancer	HSMM	muscle
22	chr1:212699000-212699800	Enhancers	NH-A	brain
23	chr1:212699200-212699400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:212699200-212699600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:212699200-212699600	Enhancers	HSMMtube	muscle
26	chr1:212699200-212699800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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