Variant report

Variant	rs61128034
Chromosome Location	chr8:11148413-11148414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr8:11147868-11148458	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11146765..11148444-chr8:11152337..11154487,2	K562	blood:
2	chr8:11141122..11144782-chr8:11147545..11153235,7	MCF-7	breast:
3	chr8:11141173..11146375-chr8:11146983..11151363,11	K562	blood:
4	chr8:11147995..11150025-chr8:11154798..11157623,2	K562	blood:
5	chr8:11141876..11145971-chr8:11146931..11151363,10	K562	blood:
6	chr8:11147389..11148894-chr8:11203530..11205117,2	K562	blood:

No data

Variant related genes	Relation type
MTMR9	TF binding region
ENSG00000255020	Chromatin interaction
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2280802	1.00[AMR][1000 genomes]
rs3808503	1.00[AMR][1000 genomes]
rs3808508	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3808510	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4141831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56119337	1.00[AMR][1000 genomes]
rs59109107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61005672	1.00[AMR][1000 genomes]
rs61762307	1.00[AMR][1000 genomes]
rs61762308	1.00[AMR][1000 genomes]
rs892793	0.83[ASN][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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription 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	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11143000-11149400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:11143000-11162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:11143000-11166400	Weak transcription	Esophagus	oesophagus
4	chr8:11143000-11166400	Weak transcription	Pancreas	Pancrea
5	chr8:11143400-11150200	Weak transcription	Osteobl	bone
6	chr8:11143400-11152800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:11143400-11153000	Weak transcription	NHLF	lung
8	chr8:11143400-11153200	Weak transcription	Fetal Thymus	thymus
9	chr8:11143400-11154000	Weak transcription	Psoas Muscle	Psoas
10	chr8:11143400-11163600	Weak transcription	Brain Angular Gyrus	brain
11	chr8:11143400-11166400	Weak transcription	HSMMtube	muscle
12	chr8:11143800-11149200	Weak transcription	K562	blood
13	chr8:11143800-11149400	Weak transcription	Aorta	Aorta
14	chr8:11143800-11153200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:11143800-11169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:11144000-11152800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr8:11144000-11152800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:11144000-11163200	Weak transcription	Right Ventricle	heart
19	chr8:11144200-11152800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:11144400-11152800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:11144400-11153000	Weak transcription	NHEK	skin
22	chr8:11144400-11156000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:11144600-11153000	Weak transcription	Fetal Kidney	kidney
24	chr8:11144600-11153400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:11144600-11165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:11144800-11148800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:11144800-11152800	Weak transcription	Liver	Liver
28	chr8:11144800-11153000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:11144800-11153000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:11144800-11153200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:11145000-11149200	Weak transcription	Stomach Mucosa	stomach
32	chr8:11145000-11149800	Weak transcription	Small Intestine	intestine
33	chr8:11145000-11149800	Weak transcription	Hela-S3	cervix
34	chr8:11145000-11149800	Weak transcription	NHDF-Ad	bronchial
35	chr8:11145000-11152600	Weak transcription	Placenta	Placenta
36	chr8:11145000-11152800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:11145000-11152800	Weak transcription	Adipose Nuclei	Adipose
38	chr8:11145000-11152800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:11145000-11152800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:11145000-11153000	Weak transcription	HepG2	liver
41	chr8:11145000-11153200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:11145000-11153800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:11145000-11154000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:11145000-11157400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:11145200-11149400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:11145200-11150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:11145200-11152800	Weak transcription	Fetal Lung	lung
48	chr8:11145200-11153200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:11145200-11153200	Weak transcription	HMEC	breast
50	chr8:11145200-11155000	Weak transcription	Ovary	ovary

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