Variant report

Variant	rs4575219
Chromosome Location	chr10:49687925-49687926
allele	C/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	MAFK	chr10:49687665-49687998	K562	blood:	n/a	chr10:49687877-49687888 chr10:49687877-49687888 chr10:49687875-49687889 chr10:49687872-49687888 chr10:49687876-49687887

Variant related genes	Relation type
ARHGAP22	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10745277	0.83[EUR][1000 genomes]
rs10776607	0.82[EUR][1000 genomes]
rs10776608	0.82[EUR][1000 genomes]
rs10776609	0.82[EUR][1000 genomes]
rs10776610	0.82[EUR][1000 genomes]
rs10857583	0.82[EUR][1000 genomes]
rs10857584	0.82[EUR][1000 genomes]
rs10857585	0.82[EUR][1000 genomes]
rs11101343	0.81[EUR][1000 genomes]
rs11598657	0.81[ASN][1000 genomes]
rs12249815	0.81[EUR][1000 genomes]
rs3888299	0.92[ASN][1000 genomes]
rs3888909	0.92[ASN][1000 genomes]
rs3896665	0.87[ASN][1000 genomes]
rs4838412	0.82[EUR][1000 genomes]
rs4838607	0.81[EUR][1000 genomes]
rs61838750	0.81[ASN][1000 genomes]
rs7913593	0.83[EUR][1000 genomes]
rs7913612	0.82[EUR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49679200-49690400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:49679800-49689000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:49679800-49704200	Weak transcription	NH-A	brain
4	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
5	chr10:49681200-49689200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr10:49683400-49689200	Strong transcription	NHLF	lung
7	chr10:49683600-49688800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:49683800-49689600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:49684000-49689000	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr10:49684400-49688600	Weak transcription	Right Atrium	heart
11	chr10:49684600-49688000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:49684600-49688600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:49684800-49688600	Weak transcription	Left Ventricle	heart
14	chr10:49684800-49690600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr10:49684800-49693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:49685000-49689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:49685600-49701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:49685800-49692000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr10:49685800-49692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:49685800-49694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr10:49685800-49704800	Weak transcription	HUVEC	blood vessel
22	chr10:49686400-49688800	Strong transcription	Osteobl	bone
23	chr10:49686400-49690200	Enhancers	Primary hematopoietic stem cells	blood
24	chr10:49687000-49704400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr10:49687400-49688000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:49687400-49688600	Enhancers	K562	blood
27	chr10:49687400-49689000	Weak transcription	Spleen	Spleen
28	chr10:49687400-49694800	Weak transcription	HSMM	muscle
29	chr10:49687600-49688000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:49687600-49688600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:49687600-49689200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:49687600-49689400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:49687600-49703800	Weak transcription	HSMMtube	muscle
34	chr10:49687800-49689000	Weak transcription	Right Ventricle	heart
35	chr10:49687800-49689400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr10:49687800-49699200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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