Variant report

Variant	rs26983
Chromosome Location	chr5:112772701-112772702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112767090..112769759-chr5:112772592..112775569,2	K562	blood:
2	chr5:112771582..112773208-chr5:112822674..112824229,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YTHDC2-1	chr5:112771263-112772871	ENSG00000232633.3

Variant related genes	Relation type
ENSG00000232633	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1517208	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1517210	0.86[AMR][1000 genomes]
rs154039	0.83[AMR][1000 genomes]
rs154040	0.87[AMR][1000 genomes]
rs164251	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs164253	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs171181	0.83[AMR][1000 genomes]
rs173903	0.85[AMR][1000 genomes]
rs182987	0.81[AMR][1000 genomes]
rs1845290	0.83[AMR][1000 genomes]
rs190453	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2416282	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2431548	0.81[AMR][1000 genomes]
rs2434664	0.83[AMR][1000 genomes]
rs255856	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs255858	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs255863	0.86[AMR][1000 genomes]
rs255867	0.83[AMR][1000 genomes]
rs255874	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs26960	0.86[AMR][1000 genomes]
rs26987	0.81[AMR][1000 genomes]
rs26988	0.81[AMR][1000 genomes]
rs27566	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs27700	0.87[AMR][1000 genomes]
rs27718	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2914252	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs348933	0.81[AMR][1000 genomes]
rs348949	0.83[AMR][1000 genomes]
rs348950	0.83[AMR][1000 genomes]
rs348953	0.83[AMR][1000 genomes]
rs348959	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36612	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs368352	0.84[AFR][1000 genomes]
rs3857435	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs406288	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs423089	0.83[AMR][1000 genomes]
rs459428	0.85[AMR][1000 genomes]
rs461034	0.82[AMR][1000 genomes]
rs463216	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs465898	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs466564	0.81[AMR][1000 genomes]
rs4705813	0.82[AMR][1000 genomes]
rs485210	0.84[AMR][1000 genomes]
rs492346	0.81[AMR][1000 genomes]
rs6594711	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs675353	0.83[AMR][1000 genomes]
rs6869097	0.82[AMR][1000 genomes]
rs6875238	0.82[AMR][1000 genomes]
rs6879612	0.90[AMR][1000 genomes]
rs7702120	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr5:112762000-112786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112764400-112779200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:112764600-112786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112764800-112786800	Weak transcription	NHEK	skin
5	chr5:112770200-112773800	Enhancers	Fetal Stomach	stomach
6	chr5:112770400-112783400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:112770600-112773600	Enhancers	Fetal Heart	heart
8	chr5:112770600-112786800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:112770800-112773000	Enhancers	Fetal Brain Male	brain
10	chr5:112770800-112773600	Enhancers	Fetal Lung	lung
11	chr5:112772000-112775200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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