Variant report

Variant	rs11119954
Chromosome Location	chr1:212672027-212672028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:212670285..212672313-chr1:212782929..212785774,2	K562	blood:
2	chr1:212666396..212668069-chr1:212669745..212672700,2	MCF-7	breast:
3	chr1:212657352..212659830-chr1:212670221..212673074,2	K562	blood:
4	chr1:212670700..212673615-chr1:212795824..212798089,2	K562	blood:
5	chr1:212665451..212668027-chr1:212669826..212672664,2	K562	blood:
6	chr1:212667460..212673417-chr1:212776098..212784429,11	K562	blood:
7	chr1:212670746..212672683-chr1:212733125..212734851,2	K562	blood:
8	chr1:212630558..212633496-chr1:212671302..212673120,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162771	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11119947	1.00[CEU][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11119952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12080266	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12087762	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2970540	0.89[YRI][hapmap]
rs34052970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs597459	0.89[YRI][hapmap]
rs59798077	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6660931	1.00[CEU][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
5	nsv873160	chr1:212610755-212675482	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873161	chr1:212610755-212683565	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
10	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212663200-212678400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:212667200-212686400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:212669000-212672400	Enhancers	GM12878-XiMat	blood
4	chr1:212669800-212672200	Bivalent Enhancer	HepG2	liver
5	chr1:212670000-212679800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:212671000-212672200	Enhancers	HMEC	breast
7	chr1:212671000-212672400	Enhancers	Hela-S3	cervix
8	chr1:212671200-212672200	Enhancers	Left Ventricle	heart
9	chr1:212671200-212672400	Enhancers	NH-A	brain
10	chr1:212671400-212672200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:212671400-212672200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:212671400-212672200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:212671400-212672200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:212671400-212672200	Enhancers	Brain Angular Gyrus	brain
15	chr1:212671400-212672200	Enhancers	Right Atrium	heart
16	chr1:212671400-212672200	Enhancers	NHEK	skin
17	chr1:212671400-212672400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:212671400-212672400	Enhancers	Osteobl	bone
19	chr1:212671600-212672200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:212671600-212672200	Enhancers	Fetal Lung	lung
21	chr1:212671600-212672400	Enhancers	Fetal Heart	heart
22	chr1:212671800-212672200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:212671800-212672200	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:212671800-212672200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:212671800-212672200	Enhancers	Lung	lung
26	chr1:212671800-212672200	Bivalent Enhancer	K562	blood
27	chr1:212672000-212672200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:212672000-212672200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:212672000-212672200	Bivalent Enhancer	NHDF-Ad	bronchial
30	chr1:212672000-212672400	Enhancers	Stomach Mucosa	stomach
31	chr1:212672000-212679800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:212672000-212680000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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