Variant report

Variant	rs73493531
Chromosome Location	chr11:66883582-66883583
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	GATA2	chr11:66883416-66883871	SH-SY5Y	brain:	n/a	chr11:66883604-66883625 chr11:66883430-66883440 chr11:66883611-66883618 chr11:66883611-66883618 chr11:66883611-66883618 chr11:66883610-66883620
2	WRNIP1	chr11:66883512-66883589	GM12878	blood:	n/a	n/a
3	YY1	chr11:66883441-66883761	SK-N-SH_RA	brain:	n/a	n/a
4	GATA3	chr11:66883412-66883815	SH-SY5Y	brain:	n/a	chr11:66883604-66883625 chr11:66883430-66883440 chr11:66883611-66883618 chr11:66883611-66883618 chr11:66883611-66883618 chr11:66883610-66883620

No.	Distal block	Cell Line	Cell type
1	chr11:66872090..66874276-chr11:66882740..66884363,2	K562	blood:
2	chr11:66864238..66866456-chr11:66880720..66884624,3	MCF-7	breast:
3	chr11:66882735..66884511-chr11:66919392..66921298,2	MCF-7	breast:
4	chr11:66882414..66884235-chr11:66886143..66887671,2	K562	blood:
5	chr11:66880959..66884235-chr11:66884376..66888396,5	K562	blood:

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10160663	1.00[EUR][1000 genomes]
rs10896146	1.00[EUR][1000 genomes]
rs10896147	1.00[EUR][1000 genomes]
rs10896148	1.00[EUR][1000 genomes]
rs11227645	1.00[EUR][1000 genomes]
rs11227647	1.00[EUR][1000 genomes]
rs11227654	1.00[EUR][1000 genomes]
rs11227655	1.00[EUR][1000 genomes]
rs11227659	1.00[EUR][1000 genomes]
rs11227662	1.00[EUR][1000 genomes]
rs11227664	1.00[EUR][1000 genomes]
rs12222286	1.00[EUR][1000 genomes]
rs12270068	1.00[EUR][1000 genomes]
rs12270183	1.00[EUR][1000 genomes]
rs12273240	1.00[EUR][1000 genomes]
rs12274897	1.00[EUR][1000 genomes]
rs12275370	1.00[EUR][1000 genomes]
rs12276046	1.00[EUR][1000 genomes]
rs12277065	1.00[EUR][1000 genomes]
rs12277720	1.00[EUR][1000 genomes]
rs12279585	1.00[EUR][1000 genomes]
rs12281292	1.00[EUR][1000 genomes]
rs12281335	1.00[EUR][1000 genomes]
rs12281512	1.00[EUR][1000 genomes]
rs12282433	1.00[EUR][1000 genomes]
rs12282440	1.00[EUR][1000 genomes]
rs12284422	1.00[EUR][1000 genomes]
rs12284764	1.00[EUR][1000 genomes]
rs12284808	1.00[EUR][1000 genomes]
rs12284860	1.00[EUR][1000 genomes]
rs12285661	1.00[EUR][1000 genomes]
rs12287658	1.00[EUR][1000 genomes]
rs12288309	1.00[EUR][1000 genomes]
rs12288354	1.00[EUR][1000 genomes]
rs12290308	1.00[EUR][1000 genomes]
rs12290429	1.00[EUR][1000 genomes]
rs12292728	1.00[EUR][1000 genomes]
rs12293275	1.00[EUR][1000 genomes]
rs12788732	1.00[EUR][1000 genomes]
rs1638570	1.00[EUR][1000 genomes]
rs1638572	1.00[EUR][1000 genomes]
rs1790729	1.00[EUR][1000 genomes]
rs1790730	1.00[EUR][1000 genomes]
rs56173916	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56973649	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57604888	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57748654	1.00[EUR][1000 genomes]
rs57946225	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60751057	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61412808	0.97[AFR][1000 genomes]
rs7109580	1.00[EUR][1000 genomes]
rs7123934	1.00[EUR][1000 genomes]
rs7128943	1.00[EUR][1000 genomes]
rs73493529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501797	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501800	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7924894	1.00[EUR][1000 genomes]
rs7925264	1.00[EUR][1000 genomes]
rs7941982	1.00[EUR][1000 genomes]
rs7942885	1.00[EUR][1000 genomes]
rs7948985	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66871600-66884200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:66879000-66885200	Weak transcription	Right Ventricle	heart
3	chr11:66879200-66884600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:66879200-66885000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:66879200-66885000	Weak transcription	Right Atrium	heart
6	chr11:66879200-66885200	Weak transcription	Left Ventricle	heart
7	chr11:66879400-66883600	Weak transcription	Fetal Lung	lung
8	chr11:66879400-66884800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:66879400-66884800	Weak transcription	Adipose Nuclei	Adipose
10	chr11:66879400-66885000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:66879600-66884400	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:66879600-66884400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:66879600-66884800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:66879600-66884800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:66879600-66884800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:66879600-66885000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:66880400-66885000	Enhancers	Fetal Intestine Small	intestine
18	chr11:66880600-66883600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr11:66880600-66885000	Enhancers	Fetal Intestine Large	intestine
20	chr11:66881000-66883600	Enhancers	Duodenum Mucosa	Duodenum
21	chr11:66881000-66884200	Weak transcription	Fetal Heart	heart
22	chr11:66881000-66886800	Weak transcription	K562	blood
23	chr11:66881200-66883600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:66881200-66883600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:66881200-66884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:66881200-66884200	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:66881200-66884400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:66881200-66884400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:66881200-66884400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:66881200-66884600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:66881200-66884800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:66881200-66884800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:66881200-66885000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:66881200-66885000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:66881200-66885000	Weak transcription	Esophagus	oesophagus
36	chr11:66881200-66885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:66881200-66885200	Weak transcription	Dnd41	blood
38	chr11:66881400-66883600	Enhancers	GM12878-XiMat	blood
39	chr11:66881400-66884600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:66881400-66885000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:66881600-66884800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:66881800-66884800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr11:66881800-66885000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr11:66882000-66885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:66882200-66885000	Weak transcription	Colonic Mucosa	Colon
46	chr11:66882400-66883600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr11:66882400-66883800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr11:66882600-66883600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:66882600-66883800	Enhancers	Primary B cells from cord blood	blood
50	chr11:66882600-66884800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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