Variant report

Variant	rs12768718
Chromosome Location	chr10:49706201-49706202
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	JUN	chr10:49705031-49706491	K562	blood:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49706340-49706348 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458

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	chr10:49659900..49662821-chr10:49704182..49706648,2	K562	blood:
4	chr10:49698967..49701120-chr10:49704411..49706305,2	K562	blood:
5	chr10:49703894..49706471-chr10:49715514..49717897,2	K562	blood:

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

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10776611	0.90[JPT][hapmap]
rs10776612	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs10857582	0.84[JPT][hapmap]
rs11101344	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11101345	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101348	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11101349	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101350	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11101351	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101352	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11101353	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11817012	0.83[JPT][hapmap]
rs12220948	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12763969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12777004	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278676	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4012792	0.84[JPT][hapmap]
rs4838413	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838414	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838415	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4838416	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs4838608	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4838609	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838610	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838616	0.86[CHD][hapmap];0.84[JPT][hapmap]
rs6537563	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537564	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537565	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7093185	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7098760	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7895625	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7896115	0.91[CHD][hapmap];0.90[JPT][hapmap]
rs7898936	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7910327	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs935273	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49699200-49706400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:49700600-49706800	Enhancers	K562	blood
4	chr10:49701600-49716400	Weak transcription	Right Atrium	heart
5	chr10:49702200-49707400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:49702400-49718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:49703200-49707000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:49703800-49706400	Enhancers	HSMMtube	muscle
9	chr10:49704200-49707200	Enhancers	NHDF-Ad	bronchial
10	chr10:49704400-49707800	Enhancers	Primary hematopoietic stem cells	blood
11	chr10:49704600-49706600	Enhancers	Ovary	ovary
12	chr10:49705000-49707200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:49705400-49716600	Weak transcription	Brain Angular Gyrus	brain
14	chr10:49705600-49706800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr10:49705600-49708400	Weak transcription	Esophagus	oesophagus
16	chr10:49705600-49715600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:49705800-49707600	Enhancers	Brain Cingulate Gyrus	brain
18	chr10:49705800-49713000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:49706000-49706400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:49706000-49707000	Weak transcription	Fetal Stomach	stomach
21	chr10:49706000-49707400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:49706000-49709200	Weak transcription	NHLF	lung
23	chr10:49706000-49709400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr10:49706000-49710200	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:49706000-49710600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:49706000-49716600	Weak transcription	HMEC	breast
27	chr10:49706000-49723400	Weak transcription	NH-A	brain
28	chr10:49706200-49707400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:49706200-49709200	Weak transcription	Osteobl	bone
30	chr10:49706200-49709400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:49706200-49709800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:49706200-49712400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:49706200-49712400	Weak transcription	Fetal Thymus	thymus
34	chr10:49706200-49713800	Weak transcription	HSMM	muscle
35	chr10:49706200-49716400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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