Variant report

Variant	rs73286700
Chromosome Location	chr10:44791139-44791140
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	RUNX3	chr10:44791011-44791435	GM12878	blood:	n/a	chr10:44791218-44791233 chr10:44791199-44791214
2	PAX5	chr10:44790918-44791451	GM12878	blood:	n/a	chr10:44791411-44791420
3	EP300	chr10:44791130-44791519	GM12878	blood:	n/a	n/a
4	RUNX3	chr10:44790953-44791457	GM12878	blood:	n/a	chr10:44791218-44791233 chr10:44791199-44791214
5	BHLHE40	chr10:44791083-44791469	GM12878	blood:	n/a	n/a
6	WRNIP1	chr10:44790933-44791385	GM12878	blood:	n/a	n/a
7	EP300	chr10:44791113-44791554	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:44790196..44793217-chr10:44793221..44795884,3	MCF-7	breast:
2	chr10:44790586..44792742-chr10:44798450..44801246,2	K562	blood:
3	chr10:44755013..44756692-chr10:44790155..44792136,2	MCF-7	breast:
4	chr10:44790481..44792534-chr10:44792786..44795587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229116	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10400003	1.00[AMR][1000 genomes]
rs10400046	1.00[AMR][1000 genomes]
rs60805419	1.00[AMR][1000 genomes]
rs7069386	1.00[AMR][1000 genomes]
rs7069387	1.00[AMR][1000 genomes]
rs7098262	1.00[AMR][1000 genomes]
rs73286691	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286694	0.90[AFR][1000 genomes]
rs73288709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288717	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288721	1.00[AMR][1000 genomes]
rs9943349	1.00[AMR][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	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv508579	chr10:44709770-44799256	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3422728	chr10:44788646-44792944	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3352463	chr10:44789446-44792444	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44787800-44791600	Enhancers	Ovary	ovary
2	chr10:44788600-44791200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:44788600-44791600	Enhancers	NHDF-Ad	bronchial
4	chr10:44789000-44791400	Enhancers	GM12878-XiMat	blood
5	chr10:44789000-44791600	Enhancers	Right Ventricle	heart
6	chr10:44789200-44791200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr10:44789200-44791400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:44789200-44791400	Enhancers	Rectal Smooth Muscle	rectum
9	chr10:44789200-44796600	Weak transcription	Fetal Brain Female	brain
10	chr10:44789400-44791200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:44789400-44791600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:44789800-44791200	Enhancers	Left Ventricle	heart
13	chr10:44790000-44791200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:44790200-44791200	Weak transcription	Brain Germinal Matrix	brain
15	chr10:44790200-44791400	Enhancers	NHLF	lung
16	chr10:44790200-44791600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:44790200-44791600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr10:44790200-44791600	Enhancers	Osteobl	bone
19	chr10:44790400-44791200	Bivalent Enhancer	Esophagus	oesophagus
20	chr10:44790400-44791400	Enhancers	Brain Anterior Caudate	brain
21	chr10:44790400-44791600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr10:44790600-44791200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:44790600-44791400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:44790600-44791600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr10:44790600-44792200	Enhancers	Brain Angular Gyrus	brain
26	chr10:44790600-44796600	Weak transcription	Aorta	Aorta
27	chr10:44790800-44791200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr10:44790800-44791200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
29	chr10:44790800-44791400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:44790800-44791600	Enhancers	NH-A	brain
31	chr10:44791000-44791200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr10:44791000-44791200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:44791000-44791200	Enhancers	Brain Substantia Nigra	brain
34	chr10:44791000-44791200	Enhancers	Gastric	stomach
35	chr10:44791000-44791400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:44791000-44791400	Enhancers	Brain Hippocampus Middle	brain
37	chr10:44791000-44791600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr10:44791000-44791800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr10:44791000-44793200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr10:44791000-44795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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