Variant report

Variant	rs72780658
Chromosome Location	chr10:45458125-45458126
allele	C/T
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	chr10:45457577-45464667	GM12878	blood:	n/a	n/a
2	WRNIP1	chr10:45458120-45458433	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:45452754..45457463-chr10:45457605..45460897,6	MCF-7	breast:
2	chr10:45453822..45456715-chr10:45457223..45459708,3	MCF-7	breast:
3	chr10:45453904..45457174-chr10:45457388..45460255,4	K562	blood:
4	chr10:45443748..45446726-chr10:45456991..45458960,2	MCF-7	breast:

Variant related genes	Relation type
TMEM72-AS1	TF binding region
ENSG00000273363	TF binding region
ENSG00000273363	Chromatin interaction
ENSG00000224812	Chromatin interaction
ENSG00000107551	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10793573	0.80[ASN][1000 genomes]
rs11595676	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12263146	0.97[EUR][1000 genomes]
rs59626742	0.99[EUR][1000 genomes]
rs72780655	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs870204	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1035235	chr10:45442303-45467948	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45455200-45458200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr10:45455400-45458200	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr10:45455400-45462800	Flanking Active TSS	GM12878-XiMat	blood
4	chr10:45455600-45459200	Weak transcription	Hela-S3	cervix
5	chr10:45455600-45459400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:45455600-45462600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:45455600-45465200	Enhancers	Fetal Thymus	thymus
8	chr10:45455600-45465200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr10:45455800-45458800	Weak transcription	Fetal Brain Male	brain
10	chr10:45455800-45459400	Weak transcription	HMEC	breast
11	chr10:45455800-45459600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:45455800-45460600	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr10:45455800-45461400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:45455800-45463200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:45455800-45464000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:45455800-45465600	Weak transcription	Ovary	ovary
17	chr10:45456000-45458200	Weak transcription	Thymus	Thymus
18	chr10:45456000-45458600	Weak transcription	Dnd41	blood
19	chr10:45456000-45458600	Weak transcription	NH-A	brain
20	chr10:45456000-45459000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:45456000-45459200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr10:45456000-45459200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:45456000-45459600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:45456000-45459800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:45456000-45460800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr10:45456000-45463000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr10:45456000-45463400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr10:45456200-45458400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:45456200-45458600	Weak transcription	Lung	lung
30	chr10:45456200-45458800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:45456200-45459400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr10:45456200-45459400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:45456200-45459400	Weak transcription	NHLF	lung
34	chr10:45456200-45459600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:45456200-45460200	Flanking Active TSS	HepG2	liver
36	chr10:45456200-45463200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr10:45456200-45463600	Weak transcription	Esophagus	oesophagus
38	chr10:45456200-45465000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:45456400-45458600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:45456400-45458800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr10:45456400-45459600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr10:45456400-45459800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr10:45456400-45461600	Weak transcription	Osteobl	bone
44	chr10:45456400-45466200	Weak transcription	Aorta	Aorta
45	chr10:45456600-45458400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr10:45456600-45458400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr10:45456600-45458400	Active TSS	HSMM	muscle
48	chr10:45456600-45459000	Weak transcription	Fetal Brain Female	brain
49	chr10:45456600-45459000	Weak transcription	Stomach Mucosa	stomach
50	chr10:45456600-45461400	Enhancers	H1 Cell Line	embryonic stem cell

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