Variant report

Variant	rs73472549
Chromosome Location	chr11:57107423-57107424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57107096..57109188-chr11:57121507..57123782,2	K562	blood:
2	chr11:57102115..57104810-chr11:57107345..57109808,3	MCF-7	breast:
3	chr11:57106643..57109468-chr11:57279707..57283157,3	K562	blood:
4	chr11:57106760..57109570-chr11:57194731..57196556,2	K562	blood:

Variant related genes	Relation type
ENSG00000149150	Chromatin interaction
ENSG00000149136	Chromatin interaction
ENSG00000134802	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56825823	0.85[AFR][1000 genomes]
rs57590159	0.85[AFR][1000 genomes]
rs59182590	1.00[AFR][1000 genomes]
rs59267531	0.85[AFR][1000 genomes]
rs60857883	1.00[AFR][1000 genomes]
rs61427216	0.85[AFR][1000 genomes]
rs73470586	0.85[AFR][1000 genomes]
rs73470587	0.95[AFR][1000 genomes]
rs73472529	0.95[AFR][1000 genomes]
rs73472559	0.89[AFR][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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57103800-57110000	Weak transcription	Fetal Brain Female	brain
2	chr11:57104000-57113000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:57104000-57117200	Weak transcription	Right Atrium	heart
4	chr11:57104200-57117000	Weak transcription	Adipose Nuclei	Adipose
5	chr11:57104200-57117000	Weak transcription	Liver	Liver
6	chr11:57104200-57119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:57104400-57107600	Weak transcription	A549	lung
8	chr11:57104400-57109000	Weak transcription	GM12878-XiMat	blood
9	chr11:57104400-57111000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:57104600-57108400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:57105400-57107600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:57105400-57108200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:57105400-57108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:57106400-57108200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:57106400-57108400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:57106600-57107600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:57106600-57107800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:57106600-57108000	Bivalent Enhancer	HepG2	liver
19	chr11:57106800-57107600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:57106800-57108200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:57106800-57108200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:57106800-57114200	Enhancers	Fetal Brain Male	brain
23	chr11:57107000-57107800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:57107000-57107800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:57107000-57107800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
26	chr11:57107000-57108000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:57107000-57108000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:57107000-57108400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr11:57107200-57107600	Enhancers	Fetal Stomach	stomach
30	chr11:57107200-57108000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr11:57107400-57107800	Weak transcription	Fetal Thymus	thymus
32	chr11:57107400-57108000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr11:57107400-57108200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr11:57107400-57108600	Enhancers	K562	blood
35	chr11:57107400-57117200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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