Variant report

Variant	rs2190099
Chromosome Location	chr7:124384821-124384822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10252443	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1544452	0.86[EUR][1000 genomes]
rs2107932	0.87[EUR][1000 genomes]
rs2107933	0.86[EUR][1000 genomes]
rs2284215	0.86[TSI][hapmap]
rs4731206	0.89[EUR][1000 genomes]
rs73221491	0.87[EUR][1000 genomes]
rs9641746	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1027091	chr7:124311742-124388908	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	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
4	esv1802433	chr7:124365503-124385252	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124376800-124389400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:124378600-124396600	Weak transcription	Fetal Lung	lung
3	chr7:124379000-124386600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:124379600-124385400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:124383000-124394800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:124383200-124386600	Weak transcription	Liver	Liver
7	chr7:124383600-124386400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:124383800-124386800	Weak transcription	NHLF	lung
9	chr7:124384200-124385000	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:124384200-124385400	Enhancers	Brain Hippocampus Middle	brain
11	chr7:124384200-124385400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:124384400-124385000	Enhancers	Brain Anterior Caudate	brain
13	chr7:124384600-124386600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:124384800-124385000	Enhancers	Brain Substantia Nigra	brain
15	chr7:124384800-124385200	Enhancers	Brain Angular Gyrus	brain

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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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