Variant report

Variant	rs11987423
Chromosome Location	chr8:8484274-8484275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10100679	1.00[ASN][1000 genomes]
rs10113623	1.00[ASN][1000 genomes]
rs11783056	0.91[ASN][1000 genomes]
rs11991192	0.95[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11996291	0.95[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11996486	0.95[ASN][1000 genomes]
rs11998423	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13256345	0.84[ASN][1000 genomes]
rs7814367	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7814981	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7826037	0.91[ASN][1000 genomes]
rs9987261	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv890336	chr8:8396676-8500562	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1016933	chr8:8432279-8624770	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv610179	chr8:8471348-8501322	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8476000-8484400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:8476200-8492600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:8476400-8497200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:8480400-8484600	Enhancers	NHEK	skin
5	chr8:8480400-8485600	Enhancers	HMEC	breast
6	chr8:8480600-8485600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:8482000-8486600	Enhancers	HUVEC	blood vessel
8	chr8:8482200-8484800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:8482400-8484400	Enhancers	A549	lung
10	chr8:8482400-8484600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:8482400-8484600	Enhancers	NH-A	brain
12	chr8:8482400-8485400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:8482400-8485800	Enhancers	Osteobl	bone
14	chr8:8482400-8486000	Enhancers	HSMM	muscle
15	chr8:8482400-8486200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:8482600-8485800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:8482600-8485800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:8482600-8485800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:8482600-8486000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:8482800-8484600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:8482800-8484600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:8482800-8484600	Enhancers	Fetal Lung	lung
23	chr8:8482800-8485000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:8482800-8485400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:8482800-8485600	Enhancers	NHDF-Ad	bronchial
26	chr8:8482800-8485800	Enhancers	HSMMtube	muscle
27	chr8:8483000-8485600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:8483200-8484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:8483200-8484400	Enhancers	Dnd41	blood
30	chr8:8483200-8484600	Enhancers	NHLF	lung
31	chr8:8483200-8484800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:8483200-8484800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:8483200-8485600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:8483400-8484600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:8483400-8484600	Enhancers	Primary hematopoietic stem cells	blood
36	chr8:8483400-8484800	Enhancers	Brain Germinal Matrix	brain
37	chr8:8483600-8484400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:8483600-8484600	Enhancers	Primary T cells from cord blood	blood
39	chr8:8483600-8484600	Enhancers	Hela-S3	cervix
40	chr8:8483600-8488400	Weak transcription	Liver	Liver
41	chr8:8483800-8485200	Weak transcription	Lung	lung
42	chr8:8483800-8489000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:8484000-8484400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:8484000-8484400	Enhancers	Brain Substantia Nigra	brain
45	chr8:8484000-8484400	Active TSS	GM12878-XiMat	blood
46	chr8:8484000-8485400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:8484000-8488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:8484200-8484600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:8484200-8484600	Enhancers	Brain Hippocampus Middle	brain
50	chr8:8484200-8484800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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