Variant report

Variant	rs57342587
Chromosome Location	chr7:128068044-128068045
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128035982..128041518-chr7:128062564..128068284,7	MCF-7	breast:
2	chr7:128067007..128069325-chr7:128094780..128097115,3	K562	blood:
3	chr7:128068005..128069894-chr7:128069936..128071619,3	MCF-7	breast:
4	chr7:128066083..128070069-chr7:128074107..128077404,7	MCF-7	breast:
5	chr7:128066861..128069656-chr7:128084982..128087017,2	MCF-7	breast:
6	chr7:128066995..128068051-chr7:128519387..128520792,5	K562	blood:
7	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
8	chr7:127987690..127988242-chr7:128067109..128068066,2	MCF-7	breast:
9	chr7:128067041..128068068-chr7:128099107..128100020,7	K562	blood:
10	chr7:128067574..128068208-chr7:128101131..128101971,2	MCF-7	breast:
11	chr7:128067076..128068077-chr7:128101150..128101700,5	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000106348	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000135253	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2288551	0.95[EUR][1000 genomes]
rs2288552	1.00[EUR][1000 genomes]
rs2288555	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288558	0.86[ASN][1000 genomes]
rs3793166	1.00[EUR][1000 genomes]
rs56777177	0.95[EUR][1000 genomes]
rs57025636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58116488	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58306387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58346994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58432768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59521761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59959624	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60041365	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61030579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72624929	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128063000-128071600	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:128064200-128070800	Weak transcription	Adipose Nuclei	Adipose
4	chr7:128066200-128069600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:128067600-128068400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:128067600-128068400	Enhancers	Hela-S3	cervix
7	chr7:128067600-128068800	Enhancers	HepG2	liver
8	chr7:128067600-128069000	Enhancers	A549	lung
9	chr7:128067800-128068800	Enhancers	HMEC	breast

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Input of quick search could be:

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

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