Variant report

Variant	rs10112111
Chromosome Location	chr8:54996264-54996265
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54996188..54999075-chr8:55012427..55015650,3	K562	blood:

Variant related genes	Relation type
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10081501	0.96[YRI][hapmap]
rs10095679	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs10100207	0.96[YRI][hapmap]
rs10101967	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10504160	0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16919753	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28374410	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437156	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452332	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489512	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575670	1.00[AMR][1000 genomes]
rs28620338	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28698373	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28813536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894994	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589289	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590828	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590837	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592909	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
2	chr8:54949800-54999400	Weak transcription	NHLF	lung
3	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
8	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
9	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
10	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
12	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
13	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
14	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:54967200-54999200	Weak transcription	Ovary	ovary
16	chr8:54974400-54999200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:54974600-54997400	Weak transcription	Spleen	Spleen
18	chr8:54974600-54999200	Weak transcription	Right Ventricle	heart
19	chr8:54974800-54999200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:54974800-55002200	Weak transcription	Gastric	stomach
21	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:54975800-54999200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:54975800-54999600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:54982600-54999400	Weak transcription	HSMM	muscle
25	chr8:54983800-54999200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:54984000-55005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:54985000-54999200	Weak transcription	Fetal Brain Female	brain
28	chr8:54986000-54997600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:54986000-54999200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:54986200-55000000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:54988000-54999000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:54989200-54999200	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:54989400-54996400	Strong transcription	A549	lung
34	chr8:54989600-54999000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:54990000-54999000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:54990400-54999200	Weak transcription	HMEC	breast
37	chr8:54990800-54996400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:54991200-54998000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:54991200-54999200	Weak transcription	Aorta	Aorta
40	chr8:54991800-54999200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:54991800-54999200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:54991800-54999200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:54992000-55006800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:54992200-54999200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:54992200-54999200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:54992200-54999200	Weak transcription	NH-A	brain
47	chr8:54992400-54997000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:54992400-54997400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:54992400-54997600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:54992400-54997600	Weak transcription	Esophagus	oesophagus

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