Variant report

Variant	rs73986512
Chromosome Location	chr2:208983913-208983914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIKFYVE-4	chr2:208983853-208983949	NONHSAT076632
2	lnc-PIKFYVE-4	chr2:208983830-208983949	NONHSAT076631
3	lnc-PIKFYVE-4	chr2:208983830-208983949	NONHSAT076630

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10186630	1.00[AMR][1000 genomes]
rs10189163	1.00[AMR][1000 genomes]
rs10201808	1.00[AMR][1000 genomes]
rs10208129	1.00[AMR][1000 genomes]
rs13390083	1.00[AMR][1000 genomes]
rs13422757	1.00[AMR][1000 genomes]
rs34368414	1.00[AMR][1000 genomes]
rs55748006	1.00[AMR][1000 genomes]
rs55936323	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56077606	1.00[AMR][1000 genomes]
rs56115457	1.00[AMR][1000 genomes]
rs56891045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57608666	1.00[AMR][1000 genomes]
rs58324771	1.00[AMR][1000 genomes]
rs58891474	1.00[AMR][1000 genomes]
rs61370782	1.00[AMR][1000 genomes]
rs61414132	1.00[AMR][1000 genomes]
rs6731047	1.00[AMR][1000 genomes]
rs6756930	1.00[AMR][1000 genomes]
rs73983695	1.00[AMR][1000 genomes]
rs73983696	1.00[AMR][1000 genomes]
rs73983698	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983699	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983701	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986505	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986509	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7572929	1.00[AMR][1000 genomes]
rs9653334	1.00[AMR][1000 genomes]
rs9677413	1.00[AMR][1000 genomes]
rs9678765	1.00[AMR][1000 genomes]
rs9678918	1.00[AMR][1000 genomes]
rs9679488	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875745	chr2:208969865-208994045	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875746	chr2:208971007-208989708	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3443711	chr2:208977244-208989245	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208973200-208989000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:208978000-208988400	Weak transcription	Fetal Brain Female	brain
3	chr2:208978400-208988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:208978600-208986200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:208981800-208984000	Enhancers	Placenta	Placenta
6	chr2:208983000-208984600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:208983600-208984400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:208983800-208984400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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