Variant report

Variant	rs2127456
Chromosome Location	chr9:22244929-22244930
allele	A/G/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:21815923..21817929-chr9:22242697..22244990,2	MCF-7	breast:
2	chr9:22036137..22041888-chr9:22239404..22245288,7	MCF-7	breast:
3	chr9:22242724..22244385-chr9:22244555..22246878,2	MCF-7	breast:
4	chr9:21802212..21805019-chr9:22243172..22246073,3	MCF-7	breast:
5	chr9:22201365..22204175-chr9:22242865..22244933,2	MCF-7	breast:
6	chr9:22236750..22240828-chr9:22241723..22245901,7	MCF-7	breast:
7	chr9:21810380..21814374-chr9:22243319..22245670,4	MCF-7	breast:
8	chr9:22211345..22213405-chr9:22243758..22245541,3	MCF-7	breast:
9	chr9:21812476..21814067-chr9:22243888..22245328,7	MCF-7	breast:
10	chr9:22002878..22006772-chr9:22242595..22245766,3	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000099810	Chromatin interaction
ENSG00000264545	Chromatin interaction
ENSG00000229298	Chromatin interaction
ENSG00000147883	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10115846	0.92[AFR][1000 genomes]
rs10965302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12342341	0.87[AFR][1000 genomes]
rs12342712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12343420	0.87[AFR][1000 genomes]
rs28804785	0.87[AFR][1000 genomes]
rs7853372	0.87[AFR][1000 genomes]
rs7853692	0.83[AFR][1000 genomes]
rs7856785	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1021264	chr9:22159622-22293804	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1033789	chr9:22183150-22266091	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1029289	chr9:22193167-23023688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1016067	chr9:22210874-22432654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1015364	chr9:22211364-22416886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv540086	chr9:22211364-22416886	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22241000-22245200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:22241400-22251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:22242000-22245200	Weak transcription	Adipose Nuclei	Adipose
4	chr9:22242400-22245000	Weak transcription	Primary B cells from cord blood	blood
5	chr9:22243200-22245400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:22243600-22245600	Enhancers	NHEK	skin
7	chr9:22243800-22245400	Enhancers	HMEC	breast
8	chr9:22244600-22245200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr9:22244800-22245000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:22244800-22245000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr9:22244800-22245000	Active TSS	Monocytes-CD14+_RO01746	blood
12	chr9:22244800-22245200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:22244800-22245200	Enhancers	HUVEC	blood vessel
14	chr9:22244800-22245400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:22244800-22245400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:22244800-22250600	Weak transcription	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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