Variant report

Variant	rs72783101
Chromosome Location	chr10:49691889-49691890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr10:49691403-49691979	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49607370..49610119-chr10:49691566..49693350,2	K562	blood:

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10400143	0.85[ASN][1000 genomes]
rs11812546	0.95[ASN][1000 genomes]
rs3906889	0.89[ASN][1000 genomes]
rs4080665	0.97[ASN][1000 genomes]
rs56342922	0.89[ASN][1000 genomes]
rs56390836	0.84[ASN][1000 genomes]
rs60214846	0.89[ASN][1000 genomes]
rs60262503	0.89[ASN][1000 genomes]
rs61838729	0.87[ASN][1000 genomes]
rs61838734	0.89[ASN][1000 genomes]
rs7069220	0.89[ASN][1000 genomes]
rs7093726	0.89[ASN][1000 genomes]
rs72783089	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72783093	0.90[ASN][1000 genomes]
rs72783094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303077	0.97[ASN][1000 genomes]
rs7895980	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49679800-49704200	Weak transcription	NH-A	brain
2	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
3	chr10:49684800-49693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr10:49685600-49701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:49685800-49692000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:49685800-49692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:49685800-49694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:49685800-49704800	Weak transcription	HUVEC	blood vessel
9	chr10:49687000-49704400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:49687400-49694800	Weak transcription	HSMM	muscle
11	chr10:49687600-49703800	Weak transcription	HSMMtube	muscle
12	chr10:49687800-49699200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:49688600-49693800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:49688800-49699400	Weak transcription	Osteobl	bone
15	chr10:49689200-49698200	Weak transcription	NHLF	lung
16	chr10:49689200-49701400	Weak transcription	Right Atrium	heart
17	chr10:49689400-49692800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr10:49689400-49694400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:49689400-49695400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:49689400-49699000	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:49689400-49701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:49689600-49692200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:49689600-49695200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:49690600-49693600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr10:49690800-49692000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:49691000-49693000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:49691200-49692600	Enhancers	Primary hematopoietic stem cells	blood
28	chr10:49691400-49692800	Enhancers	K562	blood
29	chr10:49691800-49692200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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