Variant report

Variant	rs4730055
Chromosome Location	chr7:104484021-104484022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2428159	1.00[AMR][1000 genomes]
rs2430481	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2470935	1.00[AMR][1000 genomes]
rs2470936	1.00[AMR][1000 genomes]
rs4236578	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4431527	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4466333	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4730054	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4730056	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6466024	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6466026	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6968485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7778530	1.00[AMR][1000 genomes]
rs7783743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7784215	0.93[AFR][1000 genomes];1.00[AMR][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	nsv429790	chr7:104314049-104488049	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv429792	chr7:104400049-104488049	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5887	chr7:104401250-104491604	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522743	chr7:104411273-104486707	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104466000-104486800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:104476400-104503000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:104479600-104488800	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:104481600-104514400	Weak transcription	Fetal Kidney	kidney
5	chr7:104482400-104484800	Strong transcription	Fetal Intestine Small	intestine
6	chr7:104482600-104486000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:104482600-104486000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:104483000-104486000	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:104483600-104484400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:104483600-104485600	Weak transcription	Brain Anterior Caudate	brain
11	chr7:104483600-104487200	Strong transcription	Fetal Intestine Large	intestine
12	chr7:104483600-104493000	Weak transcription	Pancreas	Pancrea

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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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