Variant report

Variant	rs7808623
Chromosome Location	chr7:86490154-86490155
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86489621..86491409-chr7:86496611..86499175,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10215436	0.91[EUR][1000 genomes]
rs10236047	1.00[CEU][hapmap]
rs10236910	1.00[CEU][hapmap]
rs10258008	1.00[CEU][hapmap]
rs10263372	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10267763	1.00[CEU][hapmap]
rs10269943	1.00[EUR][1000 genomes]
rs10271867	0.88[CEU][hapmap]
rs1029367	0.92[EUR][1000 genomes]
rs11974622	1.00[CEU][hapmap]
rs11976876	1.00[CEU][hapmap]
rs11979332	1.00[CEU][hapmap]
rs11981220	1.00[CEU][hapmap]
rs12111888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs1476455	1.00[CEU][hapmap]
rs1557665	1.00[CEU][hapmap]
rs17161067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161070	0.81[EUR][1000 genomes]
rs17161096	1.00[CEU][hapmap]
rs17161098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs17161118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs17697878	1.00[CEU][hapmap]
rs17697894	1.00[CEU][hapmap]
rs17765493	1.00[CEU][hapmap]
rs1999945	1.00[CHB][hapmap]
rs1999946	1.00[CHB][hapmap]
rs1999947	1.00[CHB][hapmap]
rs2299231	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2373361	1.00[CEU][hapmap]
rs28362761	0.89[EUR][1000 genomes]
rs28405414	0.96[EUR][1000 genomes]
rs28410495	0.84[EUR][1000 genomes]
rs28479466	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28639719	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28755802	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35895874	0.96[EUR][1000 genomes]
rs60438843	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6965029	1.00[CEU][hapmap]
rs6972489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs73382349	1.00[EUR][1000 genomes]
rs7781782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs7783745	1.00[CEU][hapmap]
rs7792069	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7810135	1.00[CEU][hapmap]
rs9640574	1.00[CEU][hapmap]

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	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86460800-86492800	Weak transcription	Brain Germinal Matrix	brain
2	chr7:86461000-86495400	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:86465600-86496800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:86467000-86497400	Weak transcription	Fetal Brain Female	brain
5	chr7:86469200-86496800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:86475800-86496600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:86481200-86495000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:86481200-86498000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:86481400-86494800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:86481400-86525800	Weak transcription	Brain Angular Gyrus	brain
11	chr7:86484800-86494600	Weak transcription	Brain Substantia Nigra	brain
12	chr7:86485600-86494400	Weak transcription	Brain Anterior Caudate	brain
13	chr7:86488400-86495000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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