Variant report

Variant	rs58469852
Chromosome Location	chr2:73289559-73289560
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	chr2:73289555-73289668	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73285227..73287665-chr2:73288281..73291317,3	K562	blood:
2	chr2:73287986..73293083-chr2:73295177..73299013,8	MCF-7	breast:
3	chr2:73289263..73291570-chr2:73296158..73299685,4	MCF-7	breast:
4	chr2:73282143..73284248-chr2:73287345..73289978,3	K562	blood:

Variant related genes	Relation type
SFXN5	TF binding region
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1046183	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13404068	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17008579	0.81[AFR][1000 genomes]
rs2421099	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56931614	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56992198	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57875548	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58649746	0.83[ASN][1000 genomes]
rs58659495	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59108557	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs59802755	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60341789	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61652727	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62147726	0.81[AFR][1000 genomes]
rs62147727	0.83[AFR][1000 genomes]
rs62147756	0.89[AMR][1000 genomes]
rs6716846	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67421457	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
2	chr2:73249600-73290000	Weak transcription	NHLF	lung
3	chr2:73256800-73290000	Weak transcription	HSMM	muscle
4	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
5	chr2:73262800-73290600	Weak transcription	NHEK	skin
6	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:73272600-73291200	Weak transcription	Fetal Heart	heart
8	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
9	chr2:73277800-73290400	Weak transcription	HMEC	breast
10	chr2:73277800-73290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:73277800-73291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:73281200-73289800	Weak transcription	NHDF-Ad	bronchial
13	chr2:73284200-73290000	Weak transcription	Hela-S3	cervix
14	chr2:73284600-73290000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:73284600-73290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:73284600-73296600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:73284800-73290200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:73284800-73296400	Weak transcription	Fetal Kidney	kidney
19	chr2:73285000-73289600	Weak transcription	Fetal Lung	lung
20	chr2:73285000-73289800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:73285000-73290000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:73285000-73290000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:73285000-73290600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:73285000-73290600	Weak transcription	HSMMtube	muscle
25	chr2:73285000-73290800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:73285000-73291200	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:73285000-73291200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:73285000-73291200	Weak transcription	Lung	lung
29	chr2:73285000-73291200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:73285000-73291200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:73285000-73295600	Weak transcription	Primary B cells from cord blood	blood
32	chr2:73285000-73295800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:73285000-73296000	Weak transcription	Adipose Nuclei	Adipose
34	chr2:73285000-73296000	Weak transcription	Gastric	stomach
35	chr2:73285000-73296000	Weak transcription	Thymus	Thymus
36	chr2:73285000-73296600	Weak transcription	Placenta	Placenta
37	chr2:73285000-73296600	Weak transcription	Ovary	ovary
38	chr2:73285200-73289600	Weak transcription	NH-A	brain
39	chr2:73285200-73290000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:73285200-73290000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:73285200-73290600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:73285200-73290600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:73285200-73290800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:73285200-73291000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:73285200-73295800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:73285200-73296400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:73285400-73290000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:73285400-73290000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:73285400-73290800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:73285600-73290400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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