Variant report

Variant	rs648220
Chromosome Location	chr11:64151964-64151965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64146057..64148574-chr11:64151163..64153130,2	K562	blood:
2	chr11:64146057..64148116-chr11:64151039..64152663,2	K562	blood:
3	chr11:64151479..64154106-chr11:64156767..64158653,2	K562	blood:
4	chr11:64135119..64137767-chr11:64150993..64152643,2	K562	blood:
5	chr11:64143270..64145946-chr11:64150525..64152555,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221273	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1199175	1.00[AMR][1000 genomes]
rs1318165	0.83[AMR][1000 genomes]
rs477909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs483515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs484384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs488760	0.83[AMR][1000 genomes]
rs494403	1.00[AMR][1000 genomes]
rs512372	0.83[AMR][1000 genomes]
rs513264	1.00[AMR][1000 genomes]
rs523525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs545916	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs550819	0.83[AMR][1000 genomes]
rs558105	0.83[AMR][1000 genomes]
rs558864	0.83[AMR][1000 genomes]
rs564687	1.00[AMR][1000 genomes]
rs565221	0.83[AMR][1000 genomes]
rs566049	0.83[AMR][1000 genomes]
rs571379	0.83[AMR][1000 genomes]
rs590103	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601845	1.00[AMR][1000 genomes]
rs614047	0.83[AMR][1000 genomes]
rs632654	0.83[AMR][1000 genomes]
rs649463	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs652611	0.83[AMR][1000 genomes]
rs676931	0.83[AMR][1000 genomes]
rs681797	1.00[AMR][1000 genomes]
rs7941847	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
2	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
4	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64134400-64158400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:64140000-64152800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:64141200-64162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:64147200-64152400	Weak transcription	Fetal Thymus	thymus
5	chr11:64147600-64152000	Weak transcription	Gastric	stomach
6	chr11:64147800-64152800	Weak transcription	Spleen	Spleen
7	chr11:64147800-64162200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:64149400-64153800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:64149800-64153200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:64150600-64163000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:64151000-64155200	Enhancers	Placenta	Placenta
12	chr11:64151200-64152200	Enhancers	Pancreas	Pancrea
13	chr11:64151200-64154200	Enhancers	Fetal Heart	heart
14	chr11:64151400-64152000	Enhancers	Stomach Mucosa	stomach
15	chr11:64151400-64152200	Flanking Active TSS	Hela-S3	cervix
16	chr11:64151400-64153200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:64151400-64153400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:64151600-64152000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:64151600-64152000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:64151600-64152200	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr11:64151600-64152400	Enhancers	Left Ventricle	heart
22	chr11:64151600-64152600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:64151600-64152800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:64151600-64152800	Enhancers	Adipose Nuclei	Adipose
25	chr11:64151600-64153400	Enhancers	Aorta	Aorta
26	chr11:64151600-64153800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:64151600-64153800	Enhancers	Right Ventricle	heart
28	chr11:64151600-64154000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:64151600-64154000	Enhancers	Right Atrium	heart
30	chr11:64151600-64155200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:64151800-64152000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:64151800-64153000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:64151800-64153400	Enhancers	Skeletal Muscle Male	skeletal muscle

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