Variant report

Variant	rs61690499
Chromosome Location	chr7:116584613-116584614
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:116584430-116584895	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115847372-115857098..7:116580605-116585719	K562	blood:
2	7:115890993-115892266..7:116580605-116585719	H1-hESC	embryonic stem cell:	embryo
3	7:116580605-116585719..7:117100350-117112126	H1-hESC	embryonic stem cell:	embryo
4	7:116580605-116585719..7:116754962-116765597	GM12878	blood:
5	7:115861595-115870968..7:116580605-116585719	Hela-S3	cervix:
6	7:116434729-116454408..7:116580605-116585719	Hela-S3	cervix:
7	7:116580605-116585719..7:116728195-116740907	GM12878	blood:

No data

No data

No data

Variant related genes	Relation type
RNA5SP239	TF binding region
ENSG00000135269	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000226367	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10230431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139184	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17139270	0.90[EUR][1000 genomes]
rs2428289	0.90[EUR][1000 genomes]
rs2429008	0.80[ASN][1000 genomes]
rs2429010	0.80[ASN][1000 genomes]
rs2429032	0.87[EUR][1000 genomes]
rs2429035	0.85[ASN][1000 genomes]
rs35042045	0.97[EUR][1000 genomes]
rs4074503	0.97[EUR][1000 genomes]
rs4489259	0.83[EUR][1000 genomes]
rs57283107	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61673738	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466595	0.93[EUR][1000 genomes]
rs6963873	0.82[EUR][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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116570800-116592800	Weak transcription	Right Atrium	heart
2	chr7:116571000-116589000	Weak transcription	Fetal Lung	lung
3	chr7:116583000-116591600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:116583000-116593000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:116583600-116584800	Enhancers	K562	blood
6	chr7:116584400-116585000	Enhancers	Fetal Heart	heart

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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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