Variant report

Variant	rs2497747
Chromosome Location	chr10:116336372-116336373
allele	A/C
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	POLR2A	chr10:116335433-116337767	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116335323..116336834-chr10:116340882..116343052,2	K562	blood:
2	chr10:116336258..116337091-chr22:45927873..45928423,2	MCF-7	breast:

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]
rs2497748	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116311600-116336600	Weak transcription	Colonic Mucosa	Colon
2	chr10:116318000-116337200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr10:116318400-116336600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:116321400-116336600	Weak transcription	Fetal Lung	lung
5	chr10:116323400-116352000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:116323800-116352000	Weak transcription	Fetal Intestine Large	intestine
7	chr10:116324200-116337400	Weak transcription	Fetal Stomach	stomach
8	chr10:116331000-116339000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr10:116332200-116337000	Weak transcription	A549	lung
10	chr10:116333600-116336600	Weak transcription	Brain Substantia Nigra	brain
11	chr10:116333600-116345000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr10:116334600-116337200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:116334800-116336600	Weak transcription	HUVEC	blood vessel
14	chr10:116335200-116336800	Enhancers	Pancreas	Pancrea
15	chr10:116335200-116336800	Enhancers	Psoas Muscle	Psoas
16	chr10:116335200-116337000	Enhancers	Brain Angular Gyrus	brain
17	chr10:116335200-116337000	Enhancers	Fetal Heart	heart
18	chr10:116335200-116337200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:116335200-116337600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:116335200-116337600	Enhancers	HMEC	breast
21	chr10:116335200-116337800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:116335200-116337800	Enhancers	Adipose Nuclei	Adipose
23	chr10:116335200-116338000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:116335200-116338000	Enhancers	HSMM	muscle
25	chr10:116335200-116338200	Enhancers	Right Atrium	heart
26	chr10:116335400-116336600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:116335400-116336600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:116335400-116336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:116335400-116336800	Enhancers	Stomach Smooth Muscle	stomach
30	chr10:116335400-116337000	Enhancers	Aorta	Aorta
31	chr10:116335400-116337200	Enhancers	NHEK	skin
32	chr10:116335400-116337400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr10:116335400-116337400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr10:116335400-116337800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:116335400-116337800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:116335400-116337800	Enhancers	Liver	Liver
37	chr10:116335400-116337800	Enhancers	Brain Hippocampus Middle	brain
38	chr10:116335400-116338000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr10:116335400-116351600	Weak transcription	Fetal Intestine Small	intestine
40	chr10:116335600-116336400	Weak transcription	Right Ventricle	heart
41	chr10:116335600-116343400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:116335600-116344200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:116335800-116338000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr10:116336000-116336400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr10:116336000-116336400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:116336000-116336800	Enhancers	Lung	lung
47	chr10:116336000-116336800	Enhancers	Ovary	ovary
48	chr10:116336000-116337000	Enhancers	Brain Anterior Caudate	brain
49	chr10:116336000-116337200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr10:116336000-116337400	Enhancers	NH-A	brain

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