Variant report

Variant	rs2299219
Chromosome Location	chr7:86417845-86417846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86416612..86418923-chr7:86419769..86421424,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10085471	0.82[EUR][1000 genomes]
rs10085604	0.95[ASN][1000 genomes]
rs10234440	0.85[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs10254088	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs10268818	0.81[EUR][1000 genomes]
rs10277739	0.86[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs10280549	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13229442	0.81[CHB][hapmap]
rs1468412	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1468413	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs2158786	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs2190301	0.82[EUR][1000 genomes]
rs2237561	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs2237562	0.86[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2282965	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs2299226	0.81[CHD][hapmap]
rs36165845	0.84[EUR][1000 genomes]
rs6961677	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs6977175	0.95[ASN][1000 genomes]
rs723631	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs7804907	0.86[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7806785	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

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	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	nsv831053	chr7:86268171-86440999	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86415600-86418000	Enhancers	GM12878-XiMat	blood
2	chr7:86415800-86419400	Weak transcription	Brain Angular Gyrus	brain
3	chr7:86416200-86419200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:86416400-86419000	Weak transcription	Fetal Brain Male	brain
5	chr7:86416600-86418200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:86416600-86426200	Weak transcription	Fetal Brain Female	brain
7	chr7:86416800-86418200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:86416800-86418400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:86416800-86418400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:86416800-86419000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:86416800-86420800	Weak transcription	Brain Substantia Nigra	brain
12	chr7:86416800-86421200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:86417000-86418200	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:86417600-86418000	Weak transcription	Brain Anterior Caudate	brain

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