Variant report

Variant	rs74133218
Chromosome Location	chr1:185597638-185597639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr1:185597417-185597716	GM12891	blood:	n/a	n/a
2	PAX5	chr1:185597410-185597679	GM12878	blood:	n/a	n/a

No data

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IVNS1ABP-2	chr1:185597539-185597659	XLOC_001126
2	lnc-IVNS1ABP-2	chr1:185597539-185597648	XLOC_001126
3	lnc-IVNS1ABP-2	chr1:185597539-185597648	XLOC_001126
4	lnc-IVNS1ABP-2	chr1:185597539-185597648	XLOC_001126
5	lnc-IVNS1ABP-2	chr1:185597539-185597648	XLOC_001126

No data

No data

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs55646109	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55785813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55868516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55953486	1.00[AFR][1000 genomes]
rs57402553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58169917	1.00[AMR][1000 genomes]
rs58478654	1.00[AMR][1000 genomes]
rs60005347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60245030	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132499	1.00[AMR][1000 genomes]
rs74132952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133210	1.00[AMR][1000 genomes]
rs74133214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133237	1.00[AMR][1000 genomes]
rs74135005	1.00[AMR][1000 genomes]
rs74135006	1.00[AMR][1000 genomes]
rs74135007	1.00[AMR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3350575	chr1:185580344-185614213	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 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	chr1:185588400-185601400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:185596400-185601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:185596600-185601600	Weak transcription	Placenta	Placenta
4	chr1:185597000-185597800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:185597000-185598000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:185597600-185597800	Enhancers	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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