Variant report

Variant	rs4971096
Chromosome Location	chr1:155609806-155609807
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155605649..155607363-chr1:155609157..155610768,2	K562	blood:
2	chr1:155609013..155610519-chr1:155620410..155621940,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2136918	0.94[AFR][1000 genomes]
rs2175390	0.94[AFR][1000 genomes]
rs2686266	0.93[AFR][1000 genomes]
rs348187	0.93[AFR][1000 genomes]
rs348195	0.82[AFR][1000 genomes]
rs348198	0.81[AFR][1000 genomes]
rs487216	0.90[AFR][1000 genomes]
rs4971094	0.90[AFR][1000 genomes]
rs4971098	0.94[AFR][1000 genomes]
rs525240	0.93[AFR][1000 genomes]
rs536192	0.93[AFR][1000 genomes]
rs589431	0.94[AFR][1000 genomes]
rs601103	0.94[AFR][1000 genomes]
rs602905	0.93[AFR][1000 genomes]
rs651905	0.90[AFR][1000 genomes]
rs662116	0.86[AFR][1000 genomes]
rs6675983	0.91[AFR][1000 genomes]
rs7524742	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155595000-155613000	Weak transcription	Osteobl	bone
2	chr1:155603000-155611400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:155605000-155618000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:155605400-155613000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:155606200-155610600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:155606400-155613000	Weak transcription	HSMM	muscle
7	chr1:155607400-155611200	Weak transcription	NHEK	skin
8	chr1:155607400-155611600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:155607400-155612000	Weak transcription	HSMMtube	muscle
10	chr1:155607400-155612800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:155607400-155621200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:155607600-155610000	Weak transcription	K562	blood
13	chr1:155607600-155613200	Weak transcription	A549	lung
14	chr1:155607800-155610200	Weak transcription	Liver	Liver
15	chr1:155607800-155610400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:155607800-155611400	Weak transcription	Adipose Nuclei	Adipose
17	chr1:155608000-155613000	Weak transcription	NH-A	brain
18	chr1:155609000-155610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:155609400-155611800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:155609400-155611800	Enhancers	HepG2	liver

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