Variant report

Variant	rs58042413
Chromosome Location	chr11:57112321-57112322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:57112280-57112430	GM06990	blood:	n/a	n/a
2	CTCF	chr11:57112300-57112450	GM12864	blood:	n/a	n/a
3	CTCF	chr11:57112260-57112410	GM12872	blood:	n/a	n/a
4	CTCF	chr11:57112320-57112470	GM12873	blood:	n/a	n/a
5	CTCF	chr11:57112280-57112430	GM12875	blood:	n/a	n/a
6	CTCF	chr11:57112320-57112470	HEK293	kidney:	n/a	n/a
7	CTCF	chr11:57112320-57112470	GM12870	blood:	n/a	n/a
8	ZEB1	chr11:57112287-57112519	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57109377..57112591-chr11:57112819..57115430,3	K562	blood:
2	chr11:57111944..57114870-chr11:57120183..57122061,2	K562	blood:
3	chr11:57111827..57114094-chr11:57115840..57117625,2	MCF-7	breast:
4	chr11:57078185..57079975-chr11:57111836..57114814,2	MCF-7	breast:

No data

Variant related genes	Relation type
P2RX3	TF binding region
ENSG00000149115	Chromatin interaction
ENSG00000109991	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	0.84[AFR][1000 genomes]
rs58425547	0.84[AFR][1000 genomes]
rs58587506	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59868342	1.00[AMR][1000 genomes]
rs60972068	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102220	0.90[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57104000-57113000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:57104000-57117200	Weak transcription	Right Atrium	heart
3	chr11:57104200-57117000	Weak transcription	Adipose Nuclei	Adipose
4	chr11:57104200-57117000	Weak transcription	Liver	Liver
5	chr11:57104200-57119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:57106800-57114200	Enhancers	Fetal Brain Male	brain
7	chr11:57107400-57117200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:57107600-57117000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:57108000-57113000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:57108400-57113000	Weak transcription	A549	lung
11	chr11:57109400-57112400	Weak transcription	GM12878-XiMat	blood
12	chr11:57109600-57117200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:57110000-57114200	Enhancers	Fetal Brain Female	brain
14	chr11:57110400-57113200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:57111000-57112400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:57111400-57113000	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:57111400-57113400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:57111400-57116800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:57111400-57117000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:57111600-57112800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:57111600-57113000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:57111800-57112800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:57111800-57112800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:57111800-57115400	Weak transcription	K562	blood
25	chr11:57111800-57117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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