Variant report

Variant	rs10857583
Chromosome Location	chr10:49704644-49704645
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr10:49704303-49704866	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49701131..49703834-chr10:49704395..49706982,4	K562	blood:
2	chr10:49700642..49703834-chr10:49704395..49707390,3	K562	blood:
3	chr10:49684937..49687761-chr10:49703928..49705850,2	MCF-7	breast:
4	chr10:49659900..49662821-chr10:49704182..49706648,2	K562	blood:
5	chr10:49698967..49701120-chr10:49704411..49706305,2	K562	blood:
6	chr10:49703894..49706471-chr10:49715514..49717897,2	K562	blood:

No data

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10745277	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10776607	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10776608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10776609	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857585	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857586	0.91[ASN][1000 genomes]
rs10857590	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs11101343	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101358	0.88[ASN][1000 genomes]
rs11101370	0.92[CHD][hapmap];0.89[JPT][hapmap]
rs11101371	0.92[CHD][hapmap];0.89[JPT][hapmap]
rs12249815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12265171	0.85[ASN][1000 genomes]
rs1814471	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1867582	0.90[ASN][1000 genomes]
rs1947075	0.89[CHD][hapmap];0.83[JPT][hapmap]
rs2377354	0.82[JPT][hapmap]
rs4575219	0.82[EUR][1000 genomes]
rs4838412	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838417	0.83[JPT][hapmap]
rs4838607	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838611	0.86[ASN][1000 genomes]
rs7913593	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7913612	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9663790	0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10857583	ANTXRL	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49685800-49704800	Weak transcription	HUVEC	blood vessel
2	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
3	chr10:49699200-49705200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:49699200-49706000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:49699200-49706400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:49699400-49705200	Weak transcription	Brain Anterior Caudate	brain
7	chr10:49699800-49704800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:49700600-49706800	Enhancers	K562	blood
9	chr10:49701400-49706000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:49701400-49706000	Enhancers	HMEC	breast
11	chr10:49701600-49716400	Weak transcription	Right Atrium	heart
12	chr10:49702000-49704800	Weak transcription	Osteobl	bone
13	chr10:49702000-49705000	Weak transcription	Brain Angular Gyrus	brain
14	chr10:49702200-49705800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:49702200-49707400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:49702400-49718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:49702600-49705000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:49702600-49705000	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:49702600-49705200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr10:49702600-49705400	Weak transcription	Brain Substantia Nigra	brain
21	chr10:49703000-49704800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:49703000-49704800	Weak transcription	Right Ventricle	heart
23	chr10:49703200-49705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:49703200-49705400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr10:49703200-49706200	Genic enhancers	HSMM	muscle
26	chr10:49703200-49707000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:49703400-49706000	Enhancers	Placenta	Placenta
28	chr10:49703800-49705800	Enhancers	NHEK	skin
29	chr10:49703800-49706200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:49703800-49706200	Genic enhancers	Muscle Satellite Cultured Cells	--
31	chr10:49703800-49706400	Enhancers	HSMMtube	muscle
32	chr10:49704000-49705400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:49704000-49706200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:49704200-49706000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:49704200-49706000	Enhancers	NH-A	brain
36	chr10:49704200-49706000	Enhancers	NHLF	lung
37	chr10:49704200-49707200	Enhancers	NHDF-Ad	bronchial
38	chr10:49704400-49704800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr10:49704400-49706200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:49704400-49707800	Enhancers	Primary hematopoietic stem cells	blood
41	chr10:49704600-49705600	Enhancers	Esophagus	oesophagus
42	chr10:49704600-49705800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr10:49704600-49706000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr10:49704600-49706000	Enhancers	Fetal Stomach	stomach
45	chr10:49704600-49706200	Enhancers	Fetal Thymus	thymus
46	chr10:49704600-49706600	Enhancers	Ovary	ovary

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