Variant report

Variant	rs17036645
Chromosome Location	chr2:47730496-47730497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17039235	0.82[EUR][1000 genomes]
rs17218550	0.82[EUR][1000 genomes]
rs17224794	0.82[EUR][1000 genomes]
rs6741393	0.86[CEU][hapmap];1.00[GIH][hapmap]

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	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47727800-47731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:47727800-47732200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:47729600-47732000	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:47729800-47731800	Flanking Active TSS	GM12878-XiMat	blood
5	chr2:47729800-47733800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:47730000-47731600	Enhancers	Primary B cells from cord blood	blood
7	chr2:47730000-47731800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:47730200-47730600	Enhancers	NHDF-Ad	bronchial
9	chr2:47730400-47730600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:47730400-47730600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:47730400-47735600	Weak transcription	HUVEC	blood vessel

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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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