Variant report

Variant	rs2040803
Chromosome Location	chr7:19811763-19811764
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]
rs10486368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486369	0.89[AFR][1000 genomes]
rs17141906	0.87[ASN][1000 genomes]
rs17141961	0.94[AFR][1000 genomes]
rs17355404	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17355477	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17452574	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17452630	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17452644	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17452672	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17452685	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17452867	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989976	0.89[AFR][1000 genomes]
rs56127587	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7779902	1.00[CEU][hapmap]

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	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv830918	chr7:19747674-19914527	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv1847477	chr7:19778086-19970584	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19809600-19813600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:19811200-19812000	Active TSS	Brain Germinal Matrix	brain
3	chr7:19811200-19812000	Flanking Active TSS	Fetal Brain Male	brain
4	chr7:19811200-19813400	Active TSS	Fetal Brain Female	brain
5	chr7:19811400-19811800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:19811400-19811800	Bivalent Enhancer	Colon Smooth Muscle	Colon
7	chr7:19811400-19813600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
8	chr7:19811600-19811800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:19811600-19811800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr7:19811600-19811800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr7:19811600-19811800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:19811600-19811800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:19811600-19812000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr7:19811600-19812000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:19811600-19812000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr7:19811600-19812000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
17	chr7:19811600-19812000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
18	chr7:19811600-19812200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:19811600-19812800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
20	chr7:19811600-19813600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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