Variant report

Variant	rs2117614
Chromosome Location	chr8:11164659-11164660
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1369366	0.83[AMR][1000 genomes]
rs1369367	0.83[AMR][1000 genomes]
rs1435281	0.83[AMR][1000 genomes]
rs1529855	0.83[AMR][1000 genomes]
rs2043511	0.83[AMR][1000 genomes]
rs2060464	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2572396	0.83[AMR][1000 genomes]
rs2572402	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2572424	0.83[AMR][1000 genomes]
rs2572425	0.83[AMR][1000 genomes]
rs2572427	0.83[AMR][1000 genomes]
rs2736257	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736259	0.83[AMR][1000 genomes]
rs2736260	0.83[AMR][1000 genomes]
rs2736263	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736271	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736383	0.83[AMR][1000 genomes]
rs55731352	0.83[AMR][1000 genomes]
rs61251909	0.83[AMR][1000 genomes]
rs73665041	0.83[AMR][1000 genomes]
rs73665047	0.83[AMR][1000 genomes]
rs978148	0.83[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	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11143000-11166400	Weak transcription	Esophagus	oesophagus
2	chr8:11143000-11166400	Weak transcription	Pancreas	Pancrea
3	chr8:11143400-11166400	Weak transcription	HSMMtube	muscle
4	chr8:11143800-11169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:11144600-11165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:11146800-11166200	Weak transcription	Spleen	Spleen
7	chr8:11147600-11165800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:11147600-11166400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:11150800-11169800	Weak transcription	Small Intestine	intestine
10	chr8:11152000-11168200	Weak transcription	Fetal Heart	heart
11	chr8:11152000-11169800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:11153400-11165400	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:11154000-11166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:11154000-11167000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:11154200-11165400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:11154200-11166400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:11154200-11166400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:11154200-11181400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:11154200-11183800	Strong transcription	Liver	Liver
20	chr8:11154600-11183000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr8:11155000-11165000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:11155000-11184000	Strong transcription	Dnd41	blood
23	chr8:11155200-11164800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:11155600-11165000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:11155600-11166000	Weak transcription	Colonic Mucosa	Colon
26	chr8:11155600-11183200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:11156200-11165600	Weak transcription	Ovary	ovary
28	chr8:11156600-11164800	Weak transcription	Brain Germinal Matrix	brain
29	chr8:11157200-11180800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:11157400-11182600	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:11157600-11183000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:11157800-11166200	Weak transcription	HMEC	breast
33	chr8:11158600-11165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:11159600-11165600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:11159800-11165000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:11160000-11176200	Strong transcription	Fetal Thymus	thymus
37	chr8:11160600-11169800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:11160600-11176200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:11160600-11176200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr8:11160600-11178800	Strong transcription	Fetal Intestine Large	intestine
41	chr8:11161000-11169600	Strong transcription	Fetal Stomach	stomach
42	chr8:11161600-11183200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:11161800-11182600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr8:11162000-11170200	Strong transcription	Rectal Smooth Muscle	rectum
45	chr8:11162000-11180200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:11162000-11181200	Strong transcription	HSMM	muscle
47	chr8:11162000-11182600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr8:11162000-11183400	Strong transcription	Primary T cells from cord blood	blood
49	chr8:11162200-11168000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:11162200-11169400	Strong transcription	Primary hematopoietic stem cells	blood

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