Variant report

Variant	rs11101343
Chromosome Location	chr10:49706581-49706582
allele	C/T
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	POLR2A	chr10:49706455-49707018	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49571889..49574086-chr10:49706276..49707792,2	K562	blood:
2	chr10:49701131..49703834-chr10:49704395..49706982,4	K562	blood:
3	chr10:49700642..49703834-chr10:49704395..49707390,3	K562	blood:
4	chr10:49659900..49662821-chr10:49704182..49706648,2	K562	blood:

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10745277	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10776607	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10776608	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10776609	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776610	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857583	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857584	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857585	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857586	0.91[ASN][1000 genomes]
rs11101358	0.88[ASN][1000 genomes]
rs12249815	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12265171	0.85[ASN][1000 genomes]
rs1814471	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1867582	0.90[ASN][1000 genomes]
rs4575219	0.81[EUR][1000 genomes]
rs4838412	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838607	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838611	0.86[ASN][1000 genomes]
rs7913593	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7913612	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9663790	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49700600-49706800	Enhancers	K562	blood
3	chr10:49701600-49716400	Weak transcription	Right Atrium	heart
4	chr10:49702200-49707400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:49702400-49718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:49703200-49707000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:49704200-49707200	Enhancers	NHDF-Ad	bronchial
8	chr10:49704400-49707800	Enhancers	Primary hematopoietic stem cells	blood
9	chr10:49704600-49706600	Enhancers	Ovary	ovary
10	chr10:49705000-49707200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:49705400-49716600	Weak transcription	Brain Angular Gyrus	brain
12	chr10:49705600-49706800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr10:49705600-49708400	Weak transcription	Esophagus	oesophagus
14	chr10:49705600-49715600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:49705800-49707600	Enhancers	Brain Cingulate Gyrus	brain
16	chr10:49705800-49713000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr10:49706000-49707000	Weak transcription	Fetal Stomach	stomach
18	chr10:49706000-49707400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:49706000-49709200	Weak transcription	NHLF	lung
20	chr10:49706000-49709400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr10:49706000-49710200	Weak transcription	Fetal Muscle Leg	muscle
22	chr10:49706000-49710600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:49706000-49716600	Weak transcription	HMEC	breast
24	chr10:49706000-49723400	Weak transcription	NH-A	brain
25	chr10:49706200-49707400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:49706200-49709200	Weak transcription	Osteobl	bone
27	chr10:49706200-49709400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr10:49706200-49709800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:49706200-49712400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:49706200-49712400	Weak transcription	Fetal Thymus	thymus
31	chr10:49706200-49713800	Weak transcription	HSMM	muscle
32	chr10:49706200-49716400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:49706400-49709400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:49706400-49710400	Weak transcription	HSMMtube	muscle

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