Variant report

Variant	rs10789943
Chromosome Location	chr11:113345339-113345340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10789944	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10789945	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10891550	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10891551	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10891552	0.94[ASN][1000 genomes]
rs10891556	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10891565	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11214611	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11214618	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11214632	0.85[ASN][1000 genomes]
rs11214633	0.87[ASN][1000 genomes]
rs11214635	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12421616	0.94[ASN][1000 genomes]
rs2002228	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2002229	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4245149	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4350392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4447205	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4548655	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4648317	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4938019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4938026	0.87[ASN][1000 genomes]
rs55887984	0.94[ASN][1000 genomes]
rs7117915	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7122454	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7479729	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv523683	chr11:113341391-113346955	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	esv3404066	chr11:113344767-113347615	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113344600-113345800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
2	chr11:113344800-113345400	Enhancers	Ovary	ovary
3	chr11:113344800-113345400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
4	chr11:113344800-113345800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
5	chr11:113344800-113345800	Flanking Active TSS	HMEC	breast
6	chr11:113344800-113346000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:113344800-113346600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr11:113344800-113346600	Enhancers	Pancreas	Pancrea
9	chr11:113344800-113346800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr11:113344800-113346800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:113345000-113345400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr11:113345000-113345400	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:113345000-113345400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:113345000-113345400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr11:113345000-113345400	Enhancers	Right Atrium	heart
16	chr11:113345000-113345400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
17	chr11:113345000-113345600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:113345000-113345600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
19	chr11:113345000-113345600	Bivalent Enhancer	Fetal Brain Male	brain
20	chr11:113345000-113345600	Active TSS	HSMMtube	muscle
21	chr11:113345000-113345800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:113345000-113345800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr11:113345000-113345800	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr11:113345000-113346000	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr11:113345000-113346000	Bivalent Enhancer	Lung	lung
26	chr11:113345000-113346200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr11:113345000-113346400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr11:113345000-113346400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr11:113345000-113346400	Enhancers	Gastric	stomach
30	chr11:113345000-113346600	Bivalent Enhancer	Placenta	Placenta
31	chr11:113345000-113346600	Bivalent Enhancer	Spleen	Spleen
32	chr11:113345000-113346800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr11:113345200-113345400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:113345200-113345400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:113345200-113345400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:113345200-113345400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr11:113345200-113345400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
38	chr11:113345200-113345400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:113345200-113345400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:113345200-113345400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:113345200-113345400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:113345200-113345400	Bivalent Enhancer	Liver	Liver
43	chr11:113345200-113345400	Bivalent/Poised TSS	Colonic Mucosa	Colon
44	chr11:113345200-113345400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
45	chr11:113345200-113345400	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr11:113345200-113345400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr11:113345200-113345400	Enhancers	Right Ventricle	heart
48	chr11:113345200-113345400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
49	chr11:113345200-113345600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:113345200-113345600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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