Variant report

Variant	rs323139
Chromosome Location	chr7:78342288-78342289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12665877	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs178745	0.94[EUR][1000 genomes]
rs186533	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2627542	0.94[EUR][1000 genomes]
rs321997	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs321999	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs322001	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs322002	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs322003	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs322004	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs323133	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs323134	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs323136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs323149	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs323157	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs323158	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs323161	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs323162	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs323163	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs323165	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs323167	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs323168	0.90[EUR][1000 genomes]
rs323169	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs323170	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs323171	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs323173	0.94[EUR][1000 genomes]
rs323174	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs323175	0.94[EUR][1000 genomes]
rs323176	0.95[EUR][1000 genomes]
rs323177	0.94[EUR][1000 genomes]
rs440900	0.93[EUR][1000 genomes]
rs73150753	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7805425	0.96[ASN][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	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1019355	chr7:78319575-78399845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78336400-78343800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:78339800-78342600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:78341000-78343400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:78341200-78343400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:78341200-78346800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:78341400-78343200	Enhancers	Brain Hippocampus Middle	brain
7	chr7:78341400-78344600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr7:78341400-78345400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:78341600-78342800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:78341800-78342800	Weak transcription	Brain Anterior Caudate	brain
11	chr7:78341800-78344800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:78342000-78343600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:78342200-78343400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:78342200-78343800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:78342200-78346000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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