Variant report

Variant	rs73853397
Chromosome Location	chr3:112025094-112025095
allele	A/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	RAD21	chr3:112024856-112025236	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000239482	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13318166	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13321387	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28843681	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6804712	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6808134	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73853398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9817462	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9822925	1.00[AMR][1000 genomes];1.00[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	nsv10307	chr3:111903974-112087686	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv3949	chr3:111998512-112044060	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv967052	chr3:112020436-112027937	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112021400-112025200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:112022800-112026400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:112023200-112025400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:112023200-112027000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:112023200-112027000	Weak transcription	HMEC	breast
6	chr3:112023400-112025200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:112023400-112025200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:112023400-112025200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:112023400-112026600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:112023400-112026800	Weak transcription	Placenta	Placenta
11	chr3:112023400-112027000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:112023400-112027000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr3:112023400-112027000	Weak transcription	Ovary	ovary
14	chr3:112023400-112027200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:112023600-112025200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:112023600-112027000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:112023600-112027000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:112023600-112027000	Weak transcription	Brain Substantia Nigra	brain
19	chr3:112023600-112027200	Weak transcription	NH-A	brain
20	chr3:112023800-112027000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:112024000-112025800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:112024000-112027000	Weak transcription	Right Atrium	heart
23	chr3:112024000-112028800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:112024200-112027000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:112024200-112027000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:112024200-112027000	Weak transcription	Fetal Thymus	thymus
27	chr3:112024400-112026400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:112024400-112026800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:112024600-112026400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:112024600-112026400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:112024600-112026600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:112024600-112027000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:112024600-112027200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:112024800-112026200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:112024800-112026400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:112024800-112026600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:112024800-112027000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:112025000-112025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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