Variant report

Variant	rs72764867
Chromosome Location	chr1:245874969-245874970
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	chr1:245868253..245870049-chr1:245871825..245875145,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55776603	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55901215	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6694430	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72764870	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72764873	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72764875	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72764878	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72764884	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72764898	1.00[AMR][1000 genomes]
rs72766629	1.00[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	nsv1007728	chr1:245235174-246156455	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1002499	chr1:245365351-245929051	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497871	chr1:245706209-246655353	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv534412	chr1:245747724-246655416	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3403138	chr1:245793113-245892931	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1003594	chr1:245801793-246649329	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv2752867	chr1:245829959-245932959	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1004412	chr1:245830921-246169054	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv535385	chr1:245830921-246169054	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv873404	chr1:245850095-245964511	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS 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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245850000-245878200	Weak transcription	Placenta	Placenta
2	chr1:245850400-245878200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:245852200-245875400	Weak transcription	Brain Germinal Matrix	brain
4	chr1:245868200-245875400	Weak transcription	Fetal Heart	heart
5	chr1:245868800-245881000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:245869600-245879000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:245871600-245878200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:245872800-245875200	Enhancers	Fetal Thymus	thymus
9	chr1:245873400-245875000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:245873800-245875000	Enhancers	Esophagus	oesophagus
11	chr1:245874400-245875000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr1:245874400-245875200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:245874400-245875200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:245874400-245875200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:245874600-245875000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr1:245874600-245875200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:245874600-245875200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:245874800-245875200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:245874800-245875200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr1:245874800-245875200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr1:245874800-245875200	Enhancers	Fetal Stomach	stomach

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