Variant report

Variant	rs1369518
Chromosome Location	chr2:178935837-178935838
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	chr2:178934356..178936456-chr2:179417127..179418784,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1020011	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11686720	1.00[ASW][hapmap];0.90[MKK][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12613904	0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1358300	1.00[EUR][1000 genomes]
rs1435573	0.93[ASW][hapmap];0.87[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs1435574	0.87[YRI][hapmap]
rs1527288	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2117739	1.00[ASW][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2164330	0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2366352	0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2886651	0.87[YRI][hapmap]
rs2886653	1.00[ASW][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs334049	1.00[EUR][1000 genomes]
rs334106	1.00[EUR][1000 genomes]
rs379552	1.00[EUR][1000 genomes]
rs6433711	1.00[EUR][1000 genomes]
rs6706521	1.00[EUR][1000 genomes]
rs6729893	1.00[EUR][1000 genomes]
rs6741013	1.00[EUR][1000 genomes]
rs6746482	0.91[YRI][hapmap]
rs6761951	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs920095	0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9288012	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9288013	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs934567	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs959775	1.00[ASW][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[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	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178931600-178937000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:178932000-178936600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:178934200-178937000	Enhancers	Liver	Liver
4	chr2:178934400-178936200	Weak transcription	Pancreas	Pancrea
5	chr2:178935600-178936200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:178935600-178936600	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:178935600-178937000	Enhancers	Fetal Intestine Small	intestine
8	chr2:178935600-178937000	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr2:178935600-178937000	Weak transcription	Stomach Mucosa	stomach
10	chr2:178935600-178937400	Flanking Active TSS	K562	blood
11	chr2:178935800-178936000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:178935800-178936200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:178935800-178936200	Flanking Active TSS	A549	lung
14	chr2:178935800-178936200	Flanking Active TSS	HepG2	liver
15	chr2:178935800-178937000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:178935800-178937000	Enhancers	Fetal Intestine Large	intestine
17	chr2:178935800-178937000	Weak transcription	Rectal Mucosa Donor 31	rectum

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