Variant report

Variant	rs2497749
Chromosome Location	chr10:116337973-116337974
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11196778	0.88[EUR][1000 genomes]
rs12413487	0.99[EUR][1000 genomes]
rs2483538	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2483549	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2483560	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2483563	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483568	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483578	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483581	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483583	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2483590	0.88[EUR][1000 genomes]
rs2497663	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2497733	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2497743	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2497747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128920	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4998667	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58938015	0.99[EUR][1000 genomes]
rs60588618	0.88[EUR][1000 genomes]
rs72826986	0.88[EUR][1000 genomes]
rs72826987	0.88[EUR][1000 genomes]
rs72829115	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7913199	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7915301	0.82[AMR][1000 genomes]
rs9421186	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9421190	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs985273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116323400-116352000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:116323800-116352000	Weak transcription	Fetal Intestine Large	intestine
3	chr10:116331000-116339000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr10:116333600-116345000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:116335200-116338000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:116335200-116338000	Enhancers	HSMM	muscle
7	chr10:116335200-116338200	Enhancers	Right Atrium	heart
8	chr10:116335400-116338000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr10:116335400-116351600	Weak transcription	Fetal Intestine Small	intestine
10	chr10:116335600-116343400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:116335600-116344200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:116335800-116338000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr10:116336200-116338000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr10:116336200-116338000	Enhancers	HSMMtube	muscle
15	chr10:116336400-116339600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:116336600-116338200	Enhancers	Brain Substantia Nigra	brain
17	chr10:116336600-116341200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:116336800-116345400	Weak transcription	Psoas Muscle	Psoas
19	chr10:116336800-116359800	Weak transcription	Lung	lung
20	chr10:116336800-116360000	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:116337000-116338000	Enhancers	A549	lung
22	chr10:116337000-116340800	Weak transcription	Fetal Heart	heart
23	chr10:116337000-116360200	Weak transcription	Esophagus	oesophagus
24	chr10:116337400-116338200	Enhancers	Brain Anterior Caudate	brain
25	chr10:116337400-116352800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:116337600-116338000	Enhancers	Right Ventricle	heart
27	chr10:116337600-116353000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:116337800-116338200	Enhancers	Left Ventricle	heart
29	chr10:116337800-116341400	Weak transcription	Adipose Nuclei	Adipose
30	chr10:116337800-116350000	Weak transcription	Liver	Liver
31	chr10:116337800-116362600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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