Variant report

Variant	rs72809342
Chromosome Location	chr10:90710411-90710412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1008719	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10887870	0.84[EUR][1000 genomes]
rs11202897	0.96[EUR][1000 genomes]
rs11202898	0.99[EUR][1000 genomes]
rs11202899	0.99[EUR][1000 genomes]
rs11202902	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11202906	0.85[EUR][1000 genomes]
rs11202907	0.80[EUR][1000 genomes]
rs11591231	0.99[EUR][1000 genomes]
rs11596205	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1214564	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12241401	0.97[EUR][1000 genomes]
rs12254856	0.98[EUR][1000 genomes]
rs12267680	0.98[EUR][1000 genomes]
rs17114327	0.84[EUR][1000 genomes]
rs2119685	0.85[EUR][1000 genomes]
rs2439707	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2481918	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41284106	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41317244	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45493098	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56104559	0.99[EUR][1000 genomes]
rs56228317	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56268252	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57807025	0.99[EUR][1000 genomes]
rs59737591	0.99[EUR][1000 genomes]
rs66478243	0.99[EUR][1000 genomes]
rs7078383	0.84[EUR][1000 genomes]
rs7085698	0.84[EUR][1000 genomes]
rs7090631	0.84[EUR][1000 genomes]
rs7098235	0.84[EUR][1000 genomes]
rs72809310	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72809311	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72809314	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72809318	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72809335	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72809337	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7897521	0.84[EUR][1000 genomes]
rs7915393	0.83[EUR][1000 genomes]
rs988584	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90692400-90711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:90695600-90710800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:90695800-90710800	Weak transcription	Brain Hippocampus Middle	brain
4	chr10:90695800-90710800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:90695800-90711000	Weak transcription	Brain Angular Gyrus	brain
6	chr10:90695800-90711200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:90695800-90720800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:90699000-90724200	Weak transcription	Small Intestine	intestine
9	chr10:90699400-90715400	Weak transcription	HepG2	liver
10	chr10:90699600-90710800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:90699600-90712200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:90699600-90721800	Weak transcription	Fetal Thymus	thymus
13	chr10:90700000-90712000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr10:90701200-90710800	Weak transcription	Adipose Nuclei	Adipose
15	chr10:90701400-90720800	Weak transcription	Primary T cells from cord blood	blood
16	chr10:90701600-90711600	Weak transcription	Esophagus	oesophagus
17	chr10:90703600-90711600	Weak transcription	Spleen	Spleen
18	chr10:90703800-90711600	Weak transcription	Pancreas	Pancrea
19	chr10:90704000-90710800	Weak transcription	Left Ventricle	heart
20	chr10:90704000-90711600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:90704000-90721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr10:90704200-90710800	Weak transcription	Placenta	Placenta
23	chr10:90705000-90721800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:90705800-90710800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr10:90705800-90712800	Weak transcription	Primary B cells from cord blood	blood
26	chr10:90706800-90710800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:90707000-90713200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr10:90707200-90711400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:90707800-90712400	Active TSS	HSMMtube	muscle
30	chr10:90708000-90710800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:90708400-90713000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr10:90708600-90712400	Active TSS	Fetal Intestine Large	intestine
33	chr10:90708800-90712800	Active TSS	Fetal Intestine Small	intestine
34	chr10:90708800-90713600	Active TSS	Stomach Smooth Muscle	stomach
35	chr10:90709000-90712200	Active TSS	Colon Smooth Muscle	Colon
36	chr10:90709000-90713200	Active TSS	Aorta	Aorta
37	chr10:90709200-90710800	Weak transcription	Liver	Liver
38	chr10:90709200-90712800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr10:90709400-90710600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr10:90709600-90713000	Flanking Active TSS	Osteobl	bone
41	chr10:90709800-90710800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:90709800-90710800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:90709800-90710800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:90709800-90711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:90709800-90711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:90709800-90711200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr10:90709800-90711200	Enhancers	HMEC	breast
48	chr10:90709800-90711200	Flanking Active TSS	NHLF	lung
49	chr10:90709800-90711400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr10:90709800-90712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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