Variant report

Variant	rs12334131
Chromosome Location	chr7:33473117-33473118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10230991	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10235943	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10236358	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10239609	1.00[YRI][hapmap]
rs10243590	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10245418	1.00[YRI][hapmap]
rs10250312	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10252552	1.00[YRI][hapmap]
rs10252935	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10253189	0.83[AFR][1000 genomes]
rs10253352	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10253574	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10257379	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10259513	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10259674	1.00[YRI][hapmap]
rs10266641	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10267370	1.00[YRI][hapmap]
rs10270137	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10272446	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10276929	1.00[YRI][hapmap]
rs10951385	1.00[YRI][hapmap]
rs12112737	1.00[EUR][1000 genomes]
rs12333380	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12669847	0.81[AFR][1000 genomes]
rs12672071	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12672496	1.00[YRI][hapmap]
rs28465518	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28478218	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28564487	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28622379	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28673971	1.00[AFR][1000 genomes]
rs3779240	1.00[YRI][hapmap]
rs4298411	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6969260	1.00[YRI][hapmap]
rs6974593	1.00[YRI][hapmap]
rs9785054	1.00[YRI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830944	chr7:33389892-33549882	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv934287	chr7:33470390-33512880	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv933237	chr7:33470390-33574046	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr7:33454800-33476800	Weak transcription	Aorta	Aorta
2	chr7:33463000-33476800	Weak transcription	Psoas Muscle	Psoas
3	chr7:33468400-33478600	Weak transcription	Pancreas	Pancrea
4	chr7:33472400-33473200	Enhancers	NHEK	skin
5	chr7:33472400-33473600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:33472600-33473200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:33472800-33473200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:33472800-33473200	Enhancers	Brain Angular Gyrus	brain
9	chr7:33472800-33473200	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr7:33472800-33473200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:33473000-33473200	Enhancers	Brain Anterior Caudate	brain
12	chr7:33473000-33473200	Enhancers	Fetal Lung	lung
13	chr7:33473000-33473400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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