Variant report

Variant	rs10892568
Chromosome Location	chr11:120252828-120252829
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	FOXA2	chr11:120252774-120253028	HepG2	liver:	n/a	n/a
2	FOXA1	chr11:120252711-120253148	HepG2	liver:	n/a	chr11:120252897-120252912
3	FOS	chr11:120252653-120252936	HUVEC	blood vessel:	n/a	chr11:120252764-120252775
4	FOS	chr11:120252652-120252894	MCF10A-Er-Src	breast:	n/a	chr11:120252764-120252775
5	FOXA1	chr11:120252729-120253069	HepG2	liver:	n/a	chr11:120252897-120252912
6	FOXA1	chr11:120252721-120253025	T-47D	breast:	n/a	chr11:120252897-120252912
7	FOXA1	chr11:120252765-120252974	T-47D	breast:	n/a	chr11:120252897-120252912
8	FOXA1	chr11:120252743-120253024	HepG2	liver:	n/a	chr11:120252897-120252912

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120252565..120254544-chr11:120265761..120267481,2	K562	blood:

Variant related genes	Relation type
ARHGEF12	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10790379	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3809059	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4245212	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs496034	0.84[EUR][1000 genomes]
rs496248	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs503473	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs538661	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs632137	0.99[ASN][1000 genomes]
rs661139	0.94[ASN][1000 genomes]
rs7116481	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7927027	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7940963	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1050709	chr11:120246224-120276373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120217600-120257000	Weak transcription	HSMM	muscle
2	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:120232000-120274800	Weak transcription	Ovary	ovary
4	chr11:120239200-120253800	Weak transcription	Right Atrium	heart
5	chr11:120245000-120254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:120247800-120256000	Weak transcription	Brain Angular Gyrus	brain
7	chr11:120248200-120254200	Weak transcription	Pancreas	Pancrea
8	chr11:120248400-120254200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:120248400-120254400	Weak transcription	Fetal Heart	heart
10	chr11:120249400-120255600	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:120249600-120253200	Enhancers	Liver	Liver
12	chr11:120249600-120255400	Weak transcription	K562	blood
13	chr11:120249600-120255800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:120249800-120254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:120250200-120253000	Enhancers	Rectal Smooth Muscle	rectum
16	chr11:120250600-120253200	Enhancers	Colon Smooth Muscle	Colon
17	chr11:120250800-120253000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:120250800-120253200	Enhancers	HepG2	liver
19	chr11:120251000-120253400	Enhancers	Small Intestine	intestine
20	chr11:120251000-120255400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:120251200-120253000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:120251200-120255200	Weak transcription	Adipose Nuclei	Adipose
23	chr11:120251200-120256000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:120251400-120253200	Enhancers	NHLF	lung
25	chr11:120251400-120254200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:120251400-120254200	Weak transcription	Spleen	Spleen
27	chr11:120251400-120256000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:120251400-120261200	Weak transcription	Brain Substantia Nigra	brain
29	chr11:120251800-120253000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:120252000-120253000	Enhancers	NHDF-Ad	bronchial
31	chr11:120252000-120255800	Weak transcription	Brain Anterior Caudate	brain
32	chr11:120252200-120253000	Enhancers	Osteobl	bone
33	chr11:120252400-120253000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:120252400-120253000	Enhancers	NHEK	skin
35	chr11:120252400-120253200	Enhancers	Fetal Lung	lung
36	chr11:120252400-120253800	Weak transcription	Right Ventricle	heart
37	chr11:120252400-120253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:120252400-120256600	Weak transcription	Stomach Mucosa	stomach
39	chr11:120252600-120253800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:120252600-120253800	Weak transcription	Left Ventricle	heart
41	chr11:120252600-120254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:120252600-120254200	Weak transcription	Gastric	stomach
43	chr11:120252600-120254200	Weak transcription	Psoas Muscle	Psoas
44	chr11:120252800-120253000	Enhancers	A549	lung
45	chr11:120252800-120253200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:120252800-120253200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr11:120252800-120253400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:120252800-120255400	Enhancers	Muscle Satellite Cultured Cells	--

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