Variant report

Variant	rs576220
Chromosome Location	chr11:77093818-77093819
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	GATA3	chr11:77093138-77093834	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
PAK1	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs11237141	0.96[ASN][1000 genomes]
rs11237142	0.96[ASN][1000 genomes]
rs11237148	0.96[ASN][1000 genomes]
rs11237150	0.96[ASN][1000 genomes]
rs11237151	0.96[ASN][1000 genomes]
rs11237162	0.82[AMR][1000 genomes]
rs11237164	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1125619	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11512967	0.86[ASN][1000 genomes]
rs1225478	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12361757	0.96[ASN][1000 genomes]
rs12363707	0.96[ASN][1000 genomes]
rs12363842	0.96[ASN][1000 genomes]
rs12366261	0.92[ASN][1000 genomes]
rs1237490	0.87[EUR][1000 genomes]
rs12794253	0.96[ASN][1000 genomes]
rs1377472	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1597954	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1622364	0.96[ASN][1000 genomes]
rs1670446	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1670449	0.96[ASN][1000 genomes]
rs1670450	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1670456	0.96[ASN][1000 genomes]
rs1670458	0.96[ASN][1000 genomes]
rs1670461	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1670462	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17824184	0.96[ASN][1000 genomes]
rs1793468	0.96[ASN][1000 genomes]
rs1793471	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1793472	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1793487	0.96[ASN][1000 genomes]
rs1793490	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2154754	0.81[EUR][1000 genomes]
rs2156567	0.96[ASN][1000 genomes]
rs2602476	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2602483	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2602487	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2725820	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2725822	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2725825	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2725828	0.92[ASN][1000 genomes]
rs3015982	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3015983	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3015985	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3015986	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3015988	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3015990	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3015992	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3019233	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3019234	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3019235	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3019236	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3019249	0.86[EUR][1000 genomes]
rs3019257	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34025917	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34880271	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4375461	0.96[ASN][1000 genomes]
rs472691	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476258	0.87[EUR][1000 genomes]
rs479104	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs493256	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs494289	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs503406	0.95[EUR][1000 genomes]
rs505841	0.87[EUR][1000 genomes]
rs508662	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs51500	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs520938	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs522015	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs523481	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531638	0.85[EUR][1000 genomes]
rs535008	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs552323	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs557484	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs558470	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560571	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs561386	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562845	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563731	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs572485	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580624	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs592602	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs595654	0.85[EUR][1000 genomes]
rs598801	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs644551	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649040	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653792	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs657269	0.82[EUR][1000 genomes]
rs66518011	0.92[ASN][1000 genomes]
rs66540426	0.96[ASN][1000 genomes]
rs66728428	0.96[ASN][1000 genomes]
rs674259	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs683455	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs683762	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684793	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs686068	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs689108	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7934230	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7949721	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs883680	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:77047200-77096000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:77055200-77117600	Weak transcription	Pancreas	Pancrea
4	chr11:77064200-77102800	Weak transcription	Brain Substantia Nigra	brain
5	chr11:77067000-77097000	Weak transcription	Esophagus	oesophagus
6	chr11:77067200-77111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:77068800-77097000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:77070000-77102000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:77075200-77097200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:77081000-77094600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:77081200-77095600	Strong transcription	GM12878-XiMat	blood
12	chr11:77081200-77096600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:77082000-77095600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:77082000-77096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:77082200-77095800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr11:77082400-77104200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:77084000-77111400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:77084200-77107000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:77084400-77103600	Weak transcription	Fetal Kidney	kidney
20	chr11:77084600-77121200	Weak transcription	Thymus	Thymus
21	chr11:77086400-77108000	Weak transcription	Brain Anterior Caudate	brain
22	chr11:77086600-77102200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:77086600-77120000	Weak transcription	Spleen	Spleen
24	chr11:77087200-77106800	Weak transcription	NHEK	skin
25	chr11:77088200-77095800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:77089400-77101200	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:77090600-77094600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:77090800-77094400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:77090800-77094800	Weak transcription	Fetal Thymus	thymus
30	chr11:77090800-77096800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:77090800-77097000	Weak transcription	Ovary	ovary
32	chr11:77090800-77097200	Weak transcription	Brain Germinal Matrix	brain
33	chr11:77090800-77103000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:77090800-77103200	Weak transcription	Liver	Liver
35	chr11:77090800-77104200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:77090800-77104400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:77090800-77106400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:77090800-77111200	Weak transcription	HMEC	breast
39	chr11:77091000-77094000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:77091000-77094600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:77091000-77094600	Weak transcription	Dnd41	blood
42	chr11:77091000-77094800	Weak transcription	Primary B cells from cord blood	blood
43	chr11:77091000-77096400	Weak transcription	Lung	lung
44	chr11:77091000-77097000	Weak transcription	Fetal Brain Female	brain
45	chr11:77091000-77098600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:77091000-77103600	Weak transcription	Aorta	Aorta
47	chr11:77091000-77103800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:77091000-77104000	Weak transcription	Fetal Brain Male	brain
49	chr11:77091000-77106800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:77091000-77108200	Weak transcription	Brain Angular Gyrus	brain

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