Variant report

Variant	rs2497748
Chromosome Location	chr10:116337332-116337333
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	STAT3	chr10:116336927-116337373	MCF10A-Er-Src	breast:	n/a	chr10:116337015-116337023
2	POLR2A	chr10:116335433-116337767	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr10:116336799-116337481	MCF10A-Er-Src	breast:	n/a	n/a
4	PBX3	chr10:116336784-116337388	SK-N-SH	brain:	n/a	n/a
5	JUND	chr10:116336768-116337464	SK-N-SH	brain:	n/a	chr10:116337074-116337084 chr10:116337075-116337083 chr10:116337075-116337082 chr10:116337075-116337083 chr10:116337074-116337084 chr10:116337074-116337084 chr10:116337074-116337084
6	TCF12	chr10:116336722-116337412	SK-N-SH	brain:	n/a	n/a
7	FOS	chr10:116336894-116337407	MCF10A-Er-Src	breast:	n/a	chr10:116337074-116337084 chr10:116337075-116337083 chr10:116337075-116337082 chr10:116337075-116337083 chr10:116337074-116337084 chr10:116337074-116337084 chr10:116337074-116337084 chr10:116337073-116337084
8	JUND	chr10:116336810-116337351	SK-N-SH	brain:	n/a	chr10:116337074-116337084 chr10:116337075-116337083 chr10:116337075-116337082 chr10:116337075-116337083 chr10:116337074-116337084 chr10:116337074-116337084 chr10:116337074-116337084
9	GATA3	chr10:116336783-116337345	SK-N-SH	brain:	n/a	chr10:116337175-116337182
10	STAT3	chr10:116336890-116337361	MCF10A-Er-Src	breast:	n/a	chr10:116337015-116337023
11	FOSL2	chr10:116336756-116337377	SK-N-SH	brain:	n/a	chr10:116337074-116337084 chr10:116337075-116337083 chr10:116337075-116337082 chr10:116337075-116337083 chr10:116337074-116337084 chr10:116337074-116337084 chr10:116337074-116337084 chr10:116336763-116336774

Variant related genes	Relation type
ABLIM1	TF binding region

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]
rs2497749	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:46 , 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	chr10:116324200-116337400	Weak transcription	Fetal Stomach	stomach
4	chr10:116331000-116339000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr10:116333600-116345000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:116335200-116337600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:116335200-116337600	Enhancers	HMEC	breast
8	chr10:116335200-116337800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:116335200-116337800	Enhancers	Adipose Nuclei	Adipose
10	chr10:116335200-116338000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:116335200-116338000	Enhancers	HSMM	muscle
12	chr10:116335200-116338200	Enhancers	Right Atrium	heart
13	chr10:116335400-116337400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:116335400-116337400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr10:116335400-116337800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:116335400-116337800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:116335400-116337800	Enhancers	Liver	Liver
18	chr10:116335400-116337800	Enhancers	Brain Hippocampus Middle	brain
19	chr10:116335400-116338000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr10:116335400-116351600	Weak transcription	Fetal Intestine Small	intestine
21	chr10:116335600-116343400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:116335600-116344200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:116335800-116338000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr10:116336000-116337400	Enhancers	NH-A	brain
25	chr10:116336200-116338000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr10:116336200-116338000	Enhancers	HSMMtube	muscle
27	chr10:116336400-116337400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:116336400-116337600	Enhancers	Hela-S3	cervix
29	chr10:116336400-116339600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr10:116336600-116337400	Enhancers	NHLF	lung
31	chr10:116336600-116337600	Enhancers	NHDF-Ad	bronchial
32	chr10:116336600-116337800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:116336600-116337800	Enhancers	HUVEC	blood vessel
34	chr10:116336600-116338200	Enhancers	Brain Substantia Nigra	brain
35	chr10:116336600-116341200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr10:116336800-116337400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:116336800-116337600	Weak transcription	Right Ventricle	heart
38	chr10:116336800-116337800	Weak transcription	Left Ventricle	heart
39	chr10:116336800-116345400	Weak transcription	Psoas Muscle	Psoas
40	chr10:116336800-116359800	Weak transcription	Lung	lung
41	chr10:116336800-116360000	Weak transcription	Fetal Muscle Leg	muscle
42	chr10:116337000-116337400	Weak transcription	Brain Anterior Caudate	brain
43	chr10:116337000-116338000	Enhancers	A549	lung
44	chr10:116337000-116340800	Weak transcription	Fetal Heart	heart
45	chr10:116337000-116360200	Weak transcription	Esophagus	oesophagus
46	chr10:116337200-116337600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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