Variant report

Variant	rs73437783
Chromosome Location	chr6:54730212-54730213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54588428..54589294-chr6:54730022..54730672,2	MCF-7	breast:
2	chr6:54704497..54716767-chr6:54728797..54750947,71	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224984	Chromatin interaction
ENSG00000168143	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1155750	1.00[ASN][1000 genomes]
rs1503137	1.00[ASN][1000 genomes]
rs16886072	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16886073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16886088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16886105	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910352	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41431945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56667985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56745332	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56804573	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57271459	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911699	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73437775	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73437777	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73437784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73437785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73437796	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73439703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73439709	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54715400-54731200	Weak transcription	Hela-S3	cervix
2	chr6:54725400-54731400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:54725600-54737400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:54725600-54737600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:54726600-54739600	Weak transcription	Small Intestine	intestine
6	chr6:54727000-54730600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:54727200-54731400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:54727200-54732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:54727200-54748800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:54727400-54740400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:54727400-54743800	Weak transcription	Pancreas	Pancrea
12	chr6:54728600-54732800	Weak transcription	NHEK	skin
13	chr6:54729000-54731800	Enhancers	Fetal Heart	heart
14	chr6:54729200-54733400	Weak transcription	HMEC	breast
15	chr6:54729400-54731200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:54729800-54732200	Enhancers	Fetal Intestine Small	intestine
17	chr6:54730000-54730400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:54730000-54730400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:54730000-54730400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:54730000-54730400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:54730000-54730400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:54730000-54731000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:54730000-54731600	Enhancers	Duodenum Mucosa	Duodenum
24	chr6:54730000-54731800	Enhancers	Fetal Intestine Large	intestine
25	chr6:54730200-54731200	Weak transcription	Stomach Mucosa	stomach

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