Variant report

Variant	rs73223530
Chromosome Location	chr7:124454510-124454511
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs58302116	1.00[AMR][1000 genomes]
rs59572327	1.00[AMR][1000 genomes]
rs59653477	1.00[AMR][1000 genomes]
rs60347835	1.00[AMR][1000 genomes]
rs60630082	0.82[AMR][1000 genomes]
rs66461363	0.87[AMR][1000 genomes]
rs66501705	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs66506561	1.00[AMR][1000 genomes]
rs66528014	1.00[AMR][1000 genomes]
rs66610287	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67712588	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs68099817	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6954402	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73223509	1.00[AMR][1000 genomes]
rs73223520	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73223522	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73443849	0.93[AMR][1000 genomes]
rs73443852	1.00[AMR][1000 genomes]
rs7801681	1.00[AMR][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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124445000-124463800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:124450200-124454600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:124450800-124467000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:124451000-124461800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:124451200-124461600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:124451400-124463600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:124451600-124466600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:124452800-124475000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:124453400-124454800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:124453800-124462000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:124454000-124455200	Enhancers	Adipose Nuclei	Adipose
12	chr7:124454200-124454600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:124454200-124454800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:124454200-124454800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:124454200-124455400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:124454400-124458600	Weak transcription	Pancreas	Pancrea
17	chr7:124454400-124463000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:124454400-124463000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:124454400-124497600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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