Variant report

Variant	rs4982346
Chromosome Location	chr14:21183167-21183168
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	chr14:21173340..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	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11156636	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628398	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]
rs12433896	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12886925	0.94[ASN][1000 genomes]
rs2002078	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs6571358	0.94[ASN][1000 genomes]
rs6571359	0.94[ASN][1000 genomes]
rs7151941	0.96[ASN][1000 genomes]
rs7160404	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8003799	0.96[ASN][1000 genomes]
rs8003813	0.96[ASN][1000 genomes]
rs8007797	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8008116	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8010034	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011651	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8012051	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8015364	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21168000-21194600	Weak transcription	Gastric	stomach
2	chr14:21176400-21187600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:21178800-21183800	Enhancers	Stomach Mucosa	stomach
4	chr14:21180000-21184200	Enhancers	Primary B cells from cord blood	blood
5	chr14:21180800-21183400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:21182200-21183400	Enhancers	Pancreas	Pancrea
7	chr14:21182200-21185600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:21182600-21183200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:21182600-21183200	Enhancers	Brain Angular Gyrus	brain
10	chr14:21182600-21183400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:21182600-21183600	Enhancers	Osteobl	bone
12	chr14:21182800-21183200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:21182800-21183200	Enhancers	Brain Germinal Matrix	brain
14	chr14:21182800-21183200	Enhancers	Brain Hippocampus Middle	brain
15	chr14:21182800-21183200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr14:21182800-21183200	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:21182800-21183400	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:21182800-21183400	Enhancers	Fetal Lung	lung
19	chr14:21182800-21183400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:21182800-21183600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:21182800-21183600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr14:21182800-21183800	Enhancers	Brain Substantia Nigra	brain
23	chr14:21183000-21183200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:21183000-21183200	Enhancers	Adipose Nuclei	Adipose
25	chr14:21183000-21183200	Enhancers	Small Intestine	intestine
26	chr14:21183000-21183400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr14:21183000-21183400	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr14:21183000-21183400	Enhancers	Fetal Muscle Leg	muscle
29	chr14:21183000-21183600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr14:21183000-21183600	Enhancers	NHEK	skin
31	chr14:21183000-21185800	Enhancers	Primary B cells from peripheral blood	blood

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