Variant report

Variant	rs73433806
Chromosome Location	chr6:49524822-49524823
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	chr6:49499887..49500445-chr6:49524307..49524969,2	MCF-7	breast:
2	chr12:102300169..102302246-chr6:49521968..49524948,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136048	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10456625	1.00[EUR][1000 genomes]
rs41273692	1.00[EUR][1000 genomes]
rs41273694	1.00[EUR][1000 genomes]
rs45551532	1.00[EUR][1000 genomes]
rs6458697	1.00[EUR][1000 genomes]
rs6905369	1.00[EUR][1000 genomes]
rs6912159	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6912178	1.00[EUR][1000 genomes]
rs6912690	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6919458	1.00[EUR][1000 genomes]
rs6925445	1.00[EUR][1000 genomes]
rs6927176	1.00[EUR][1000 genomes]
rs6927459	1.00[EUR][1000 genomes]
rs6939453	1.00[EUR][1000 genomes]
rs6939457	1.00[EUR][1000 genomes]
rs73431965	1.00[EUR][1000 genomes]
rs73431999	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73433809	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73433816	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433818	1.00[AMR][1000 genomes]
rs7742891	1.00[EUR][1000 genomes]
rs7758141	1.00[EUR][1000 genomes]
rs7760893	1.00[EUR][1000 genomes]
rs7761036	1.00[EUR][1000 genomes]
rs7761928	1.00[EUR][1000 genomes]
rs9349495	1.00[EUR][1000 genomes]
rs9473590	1.00[EUR][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	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv885881	chr6:49439805-49575141	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv933833	chr6:49515134-49961765	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49519400-49526600	Enhancers	Hela-S3	cervix
2	chr6:49519400-49533600	Weak transcription	Pancreas	Pancrea
3	chr6:49520600-49529800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:49521200-49525000	Weak transcription	Esophagus	oesophagus
5	chr6:49522800-49534000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:49523000-49525400	Weak transcription	Stomach Mucosa	stomach
7	chr6:49523600-49530800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:49523800-49525600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr6:49523800-49526200	Enhancers	HepG2	liver
10	chr6:49524200-49525200	Enhancers	HUVEC	blood vessel
11	chr6:49524400-49526000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:49524400-49526000	Enhancers	Fetal Intestine Large	intestine
13	chr6:49524600-49525400	Enhancers	Duodenum Mucosa	Duodenum
14	chr6:49524600-49525600	Enhancers	Fetal Intestine Small	intestine
15	chr6:49524600-49525600	Genic enhancers	NHEK	skin
16	chr6:49524600-49528000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:49524600-49533600	Weak transcription	NH-A	brain
18	chr6:49524800-49525000	Enhancers	A549	lung
19	chr6:49524800-49525400	Weak transcription	HMEC	breast
20	chr6:49524800-49528000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:49524800-49533400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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