Variant report

Variant	rs55946851
Chromosome Location	chr13:49140140-49140141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49106089..49108573-chr13:49138293..49140212,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57910291	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58017161	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60410511	0.86[AFR][1000 genomes]
rs60646582	0.87[AFR][1000 genomes]
rs7319849	1.00[AMR][1000 genomes]
rs7330657	0.92[AFR][1000 genomes]
rs7337391	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074903	0.86[AFR][1000 genomes]
rs74074908	0.86[AFR][1000 genomes]
rs74074955	0.84[AFR][1000 genomes]
rs7988315	1.00[AMR][1000 genomes]
rs9331982	0.92[AFR][1000 genomes]
rs9331989	0.86[AFR][1000 genomes]
rs9332011	0.86[AFR][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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS 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
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv455881	chr13:49134412-49169570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv561591	chr13:49134412-49169570	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49135000-49155000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:49135200-49141800	Weak transcription	Placenta	Placenta
3	chr13:49136800-49141200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr13:49136800-49141400	Weak transcription	HepG2	liver
5	chr13:49136800-49142000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:49137000-49141600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:49137000-49142000	Weak transcription	HMEC	breast
8	chr13:49137200-49141400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr13:49137200-49141600	Weak transcription	HSMM	muscle
10	chr13:49137200-49153000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr13:49137400-49145200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr13:49137800-49140600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr13:49138600-49141000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:49138600-49141200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:49138600-49141400	Weak transcription	HSMMtube	muscle
16	chr13:49138600-49141600	Weak transcription	Osteobl	bone
17	chr13:49138600-49142000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:49138800-49140800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:49138800-49141400	Weak transcription	Stomach Mucosa	stomach
20	chr13:49138800-49145600	Weak transcription	HUVEC	blood vessel
21	chr13:49139000-49144800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr13:49139200-49141800	Weak transcription	Dnd41	blood
23	chr13:49139600-49141600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:49139600-49144400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr13:49139800-49141400	Weak transcription	Fetal Lung	lung
26	chr13:49140000-49141400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:49140000-49144200	Weak transcription	K562	blood

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