Variant report

Variant	rs61822171
Chromosome Location	chr1:209750505-209750506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209749797..209750760-chr1:209800777..209801581,3	MCF-7	breast:
2	chr1:209749734..209750526-chr1:209865971..209866858,4	MCF-7	breast:
3	chr1:209750094..209750827-chr1:209920765..209921786,7	K562	blood:
4	chr1:209749824..209750693-chr1:209866135..209866849,3	MCF-7	breast:
5	chr1:209749002..209750989-chr1:209793739..209796003,2	MCF-7	breast:
6	chr1:209749329..209750696-chr1:209865953..209867157,8	K562	blood:
7	chr1:209749916..209750746-chr1:209800716..209801439,3	K562	blood:
8	chr1:209749053..209751120-chr1:209781399..209783226,2	K562	blood:

No data

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12084657	0.93[EUR][1000 genomes]
rs17014744	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014768	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014769	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17014820	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014822	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014830	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17014836	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17388107	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067744	0.93[EUR][1000 genomes]
rs55688212	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55709381	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55967608	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025154	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165413	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58987909	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60686175	0.93[EUR][1000 genomes]
rs61819949	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61822168	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61822169	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61822172	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6540543	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663545	0.88[EUR][1000 genomes]
rs6669549	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698127	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742253	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7512091	0.93[EUR][1000 genomes]
rs7516885	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7536585	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9429996	0.91[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209749600-209750600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:209750000-209750600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:209750200-209750600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:209750200-209750600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:209750200-209750600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:209750200-209750600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:209750200-209750600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:209750200-209751000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr1:209750200-209751000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:209750200-209751000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:209750200-209751000	Enhancers	HUVEC	blood vessel
12	chr1:209750200-209751000	Enhancers	NHLF	lung
13	chr1:209750200-209751200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:209750400-209750600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:209750400-209750600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr1:209750400-209750600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:209750400-209750800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:209750400-209750800	Enhancers	Fetal Kidney	kidney
19	chr1:209750400-209750800	Enhancers	Osteobl	bone
20	chr1:209750400-209751000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:209750400-209751000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:209750400-209751000	Enhancers	HMEC	breast
23	chr1:209750400-209751200	Enhancers	NH-A	brain

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