Variant report

Variant	rs11628398
Chromosome Location	chr14:21182800-21182801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21157431..21160219-chr14:21181531..21183156,2	MCF-7	breast:
2	chr14:21173340..21178331-chr14:21181537..21185629,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258451	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10133492	0.94[ASN][1000 genomes]
rs11156634	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11156636	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433896	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12886925	0.94[ASN][1000 genomes]
rs2002078	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs4982346	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571358	0.94[ASN][1000 genomes]
rs6571359	0.94[ASN][1000 genomes]
rs7151941	0.96[ASN][1000 genomes]
rs7160404	0.95[ASN][1000 genomes]
rs8003799	0.96[ASN][1000 genomes]
rs8003813	0.96[ASN][1000 genomes]
rs8007797	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8008116	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8010034	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011651	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8012051	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8015364	1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21166400-21182800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:21168000-21194600	Weak transcription	Gastric	stomach
3	chr14:21176000-21182800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:21176400-21187600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:21176800-21182800	Weak transcription	Fetal Lung	lung
6	chr14:21178800-21183800	Enhancers	Stomach Mucosa	stomach
7	chr14:21180000-21184200	Enhancers	Primary B cells from cord blood	blood
8	chr14:21180800-21183400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:21181600-21183000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:21181600-21183000	Weak transcription	Adipose Nuclei	Adipose
11	chr14:21181800-21182800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:21181800-21182800	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:21181800-21183000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:21182000-21183000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr14:21182200-21183400	Enhancers	Pancreas	Pancrea
16	chr14:21182200-21185600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:21182400-21182800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr14:21182600-21183200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:21182600-21183200	Enhancers	Brain Angular Gyrus	brain
20	chr14:21182600-21183400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:21182600-21183600	Enhancers	Osteobl	bone
22	chr14:21182800-21183000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:21182800-21183000	Enhancers	Brain Anterior Caudate	brain
24	chr14:21182800-21183200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:21182800-21183200	Enhancers	Brain Germinal Matrix	brain
26	chr14:21182800-21183200	Enhancers	Brain Hippocampus Middle	brain
27	chr14:21182800-21183200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr14:21182800-21183200	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:21182800-21183400	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:21182800-21183400	Enhancers	Fetal Lung	lung
31	chr14:21182800-21183400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr14:21182800-21183600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:21182800-21183600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr14:21182800-21183800	Enhancers	Brain Substantia Nigra	brain

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