Variant report

Variant	rs2190107
Chromosome Location	chr7:124393714-124393715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs61744942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6969610	1.00[ASW][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6971960	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6972234	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73443829	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73443830	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73443835	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73443846	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73719044	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7792880	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7807266	1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124378600-124396600	Weak transcription	Fetal Lung	lung
2	chr7:124383000-124394800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:124385000-124394800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:124385200-124396600	Weak transcription	Aorta	Aorta
5	chr7:124385800-124395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:124387000-124394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:124387400-124395200	Weak transcription	Liver	Liver
8	chr7:124387400-124402600	Weak transcription	Fetal Stomach	stomach
9	chr7:124387600-124396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:124387800-124401200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:124389800-124395000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:124389800-124395000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:124390000-124394600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:124391600-124394800	Weak transcription	Pancreas	Pancrea
15	chr7:124392000-124395200	Active TSS	Brain Anterior Caudate	brain
16	chr7:124392000-124396200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:124392400-124393800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:124392400-124398600	Weak transcription	Fetal Brain Male	brain
19	chr7:124392400-124401200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:124392600-124395000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:124392600-124396000	Weak transcription	NHLF	lung
22	chr7:124392800-124394800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:124392800-124394800	Weak transcription	Brain Germinal Matrix	brain
24	chr7:124393000-124394400	Weak transcription	Brain Angular Gyrus	brain
25	chr7:124393600-124393800	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr7:124393600-124394200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:124393600-124394200	Weak transcription	Brain Substantia Nigra	brain
28	chr7:124393600-124406800	Active TSS	Brain Inferior Temporal Lobe	brain

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