Variant report

Variant	rs72806058
Chromosome Location	chr2:63842399-63842400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63838300..63840634-chr2:63841674..63843707,2	K562	blood:
2	chr2:63835075..63837932-chr2:63839225..63843249,3	K562	blood:
3	chr2:63837894..63839908-chr2:63842107..63843778,2	MCF-7	breast:
4	chr2:63840506..63842686-chr2:63842776..63844510,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10496102	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1109027	0.80[EUR][1000 genomes]
rs12470478	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12476015	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13405855	0.83[ASN][1000 genomes]
rs17554675	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17617855	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17618390	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17619354	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2278718	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4567921	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671062	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4671522	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671527	0.82[ASN][1000 genomes]
rs6546023	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6722981	0.83[ASN][1000 genomes]
rs6723088	0.83[ASN][1000 genomes]
rs72806004	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72806010	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72806027	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806056	0.83[EUR][1000 genomes]
rs72806082	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806089	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72806095	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821628	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72821630	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72821631	0.86[EUR][1000 genomes]
rs72821632	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63821600-63843000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:63834200-63842400	Weak transcription	A549	lung
3	chr2:63834800-63842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:63834800-63842600	Weak transcription	Left Ventricle	heart
5	chr2:63839600-63843400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr2:63839800-63842400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:63840000-63843000	Enhancers	Placenta	Placenta
8	chr2:63840000-63843600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:63840000-63844000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:63840200-63842400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:63840200-63843000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:63840200-63843800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:63840200-63844600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:63840400-63842400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:63840600-63842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:63840600-63843000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:63840600-63844400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:63840800-63842400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:63840800-63842600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:63840800-63842800	Weak transcription	Psoas Muscle	Psoas
21	chr2:63840800-63844600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:63841000-63843000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:63841000-63843000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:63841200-63842400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:63841200-63842400	Enhancers	HSMM	muscle
26	chr2:63841200-63842600	Enhancers	Osteobl	bone
27	chr2:63841400-63842400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:63841400-63842600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:63841400-63842800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr2:63841600-63842800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:63841600-63843200	Flanking Active TSS	NHEK	skin
32	chr2:63841800-63842400	Enhancers	HSMMtube	muscle
33	chr2:63841800-63842600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:63841800-63842800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr2:63841800-63842800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr2:63841800-63842800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:63842000-63842400	Enhancers	HUVEC	blood vessel
38	chr2:63842000-63842600	Enhancers	Adipose Nuclei	Adipose
39	chr2:63842000-63842600	Flanking Active TSS	HepG2	liver
40	chr2:63842000-63842800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:63842000-63844800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr2:63842200-63842400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:63842200-63842400	Flanking Active TSS	NH-A	brain
44	chr2:63842200-63842600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:63842200-63842600	Flanking Active TSS	K562	blood
46	chr2:63842200-63842800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:63842200-63843000	Flanking Active TSS	HMEC	breast

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