Variant report

Variant	rs11101357
Chromosome Location	chr10:49723300-49723301
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	SETDB1	chr10:49722066-49723587	U2OS	brain:	n/a	n/a
2	KAP1	chr10:49721884-49723636	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49714562..49719396-chr10:49719920..49724610,6	K562	blood:
2	chr10:49574821..49576525-chr10:49722125..49725054,2	K562	blood:
3	chr10:49715021..49718761-chr10:49720982..49725227,3	K562	blood:

Variant related genes	Relation type
ARHGAP22-IT1	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10735226	1.00[JPT][hapmap]
rs10776614	1.00[JPT][hapmap]
rs10776615	1.00[JPT][hapmap]
rs10857587	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857588	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857589	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857592	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs10857596	1.00[JPT][hapmap]
rs11101354	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101355	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101368	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11101377	1.00[JPT][hapmap]
rs11101381	1.00[JPT][hapmap]
rs11101382	1.00[JPT][hapmap]
rs11596336	0.90[ASN][1000 genomes]
rs11812546	1.00[JPT][hapmap]
rs12358311	1.00[JPT][hapmap]
rs12358315	1.00[JPT][hapmap]
rs12777174	0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12777190	0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12779617	0.88[ASN][1000 genomes]
rs1345109	1.00[JPT][hapmap]
rs1345110	1.00[JPT][hapmap]
rs1345111	1.00[JPT][hapmap]
rs1348633	1.00[JPT][hapmap]
rs17697837	1.00[JPT][hapmap]
rs17697885	1.00[JPT][hapmap]
rs17770615	1.00[JPT][hapmap]
rs1814469	1.00[JPT][hapmap]
rs1816888	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838568	1.00[JPT][hapmap]
rs1838569	1.00[JPT][hapmap]
rs1838570	1.00[JPT][hapmap]
rs1838573	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs1900022	0.90[ASN][1000 genomes]
rs1965170	1.00[JPT][hapmap]
rs2077152	1.00[JPT][hapmap]
rs34279198	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34552122	0.90[ASN][1000 genomes]
rs34774310	0.90[ASN][1000 genomes]
rs3910907	0.90[ASN][1000 genomes]
rs4080665	1.00[JPT][hapmap]
rs41510345	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4450130	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4838418	1.00[JPT][hapmap]
rs4838605	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs4838606	1.00[JPT][hapmap]
rs7069220	1.00[JPT][hapmap]
rs7071095	1.00[JPT][hapmap]
rs7071480	1.00[JPT][hapmap]
rs7074631	1.00[JPT][hapmap]
rs7085183	1.00[JPT][hapmap]
rs7085335	1.00[JPT][hapmap]
rs7087729	1.00[JPT][hapmap]
rs7093726	1.00[JPT][hapmap]
rs7094216	1.00[JPT][hapmap]
rs7096053	1.00[JPT][hapmap]
rs7098068	1.00[JPT][hapmap]
rs747533	1.00[JPT][hapmap]
rs749377	0.89[CHB][hapmap]
rs7910353	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7911247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7915127	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7915233	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935271	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv516006	chr10:49707942-49723300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49706000-49723400	Weak transcription	NH-A	brain
3	chr10:49714000-49727200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:49715800-49727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:49717400-49726200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:49718200-49723600	Weak transcription	HUVEC	blood vessel
7	chr10:49719400-49725800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:49720800-49726600	Weak transcription	Osteobl	bone
9	chr10:49721000-49724200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:49721400-49724000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:49721400-49724000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:49721400-49732000	Weak transcription	HMEC	breast
13	chr10:49721600-49725600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:49721800-49725000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:49723000-49723600	Weak transcription	HSMM	muscle
16	chr10:49723200-49724000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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