Variant report

Variant	rs60972068
Chromosome Location	chr11:57106173-57106174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57070443..57073281-chr11:57104289..57106679,2	MCF-7	breast:
2	chr11:57104191..57107029-chr11:57508169..57510390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254732	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs34555300	0.93[AFR][1000 genomes]
rs58042413	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58425547	0.93[AFR][1000 genomes]
rs58587506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59868342	1.00[AMR][1000 genomes]
rs7102220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7130308	1.00[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	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57103800-57110000	Weak transcription	Fetal Brain Female	brain
2	chr11:57104000-57106400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:57104000-57106800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:57104000-57106800	Weak transcription	Fetal Brain Male	brain
5	chr11:57104000-57107200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:57104000-57113000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:57104000-57117200	Weak transcription	Right Atrium	heart
8	chr11:57104200-57117000	Weak transcription	Adipose Nuclei	Adipose
9	chr11:57104200-57117000	Weak transcription	Liver	Liver
10	chr11:57104200-57119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:57104400-57106600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:57104400-57107000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:57104400-57107000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:57104400-57107200	Weak transcription	Fetal Thymus	thymus
15	chr11:57104400-57107400	Weak transcription	K562	blood
16	chr11:57104400-57107600	Weak transcription	A549	lung
17	chr11:57104400-57109000	Weak transcription	GM12878-XiMat	blood
18	chr11:57104400-57111000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:57104600-57108400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:57105400-57106400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:57105400-57107000	Enhancers	Fetal Muscle Leg	muscle
22	chr11:57105400-57107600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:57105400-57108200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:57105400-57108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:57105600-57106200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:57105600-57106200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:57105800-57106400	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr11:57105800-57106600	Active TSS	Left Ventricle	heart
29	chr11:57105800-57107000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:57105800-57107200	Weak transcription	Fetal Stomach	stomach
31	chr11:57105800-57107400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:57106000-57106200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:57106000-57106400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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