Variant report

Variant	rs12077265
Chromosome Location	chr1:154359915-154359916
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154323094..154325358-chr1:154357953..154361791,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12058332	0.84[AMR][1000 genomes]
rs12063437	0.84[AMR][1000 genomes]
rs12066892	0.81[AMR][1000 genomes]
rs12068128	0.84[AMR][1000 genomes]
rs1948143	0.84[AMR][1000 genomes]
rs34065906	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34146123	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35229198	0.84[AMR][1000 genomes]
rs35595831	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4406622	0.81[AMR][1000 genomes]
rs4414034	0.81[AMR][1000 genomes]
rs61804488	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61804489	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61812565	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6663105	0.81[AMR][1000 genomes]
rs6667225	0.81[AMR][1000 genomes]
rs6672627	0.81[AMR][1000 genomes]
rs6701309	0.81[AMR][1000 genomes]
rs68031662	0.81[AMR][1000 genomes]
rs68138282	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7518394	0.84[AMR][1000 genomes]
rs7523399	0.81[AMR][1000 genomes]
rs7530735	0.81[AMR][1000 genomes]
rs7530868	0.81[AMR][1000 genomes]
rs7552370	0.81[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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154326800-154360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:154358400-154360400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:154358400-154362800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:154358400-154363600	Weak transcription	Esophagus	oesophagus
5	chr1:154358600-154363400	Weak transcription	NHEK	skin
6	chr1:154358600-154363600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:154358600-154364000	Weak transcription	Hela-S3	cervix
8	chr1:154359000-154360000	Enhancers	Primary T cells from cord blood	blood
9	chr1:154359200-154360000	Enhancers	A549	lung
10	chr1:154359400-154360400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:154359600-154360000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:154359600-154360200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:154359600-154360200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr1:154359600-154360200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:154359600-154360200	Enhancers	Colonic Mucosa	Colon
16	chr1:154359600-154360200	Enhancers	K562	blood
17	chr1:154359600-154360400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:154359600-154360400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:154359600-154360400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:154359600-154360400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:154359600-154360600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:154359600-154360800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:154359600-154361000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:154359600-154363600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:154359600-154363800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:154359600-154364000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:154359800-154360400	Enhancers	HepG2	liver

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