Variant report

Variant	rs34714539
Chromosome Location	chr12:40322527-40322528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10747955	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10747959	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784283	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564118	1.00[ASN][1000 genomes]
rs11564120	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564122	1.00[ASN][1000 genomes]
rs11564132	1.00[ASN][1000 genomes]
rs11564226	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099949	1.00[ASN][1000 genomes]
rs1497046	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497048	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566127	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17442665	1.00[ASN][1000 genomes]
rs17442735	1.00[ASN][1000 genomes]
rs17442812	1.00[ASN][1000 genomes]
rs17458341	1.00[ASN][1000 genomes]
rs17458780	1.00[ASN][1000 genomes]
rs17458836	1.00[ASN][1000 genomes]
rs17489985	1.00[ASN][1000 genomes]
rs2132745	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132746	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404351	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370599	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35985096	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768196	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768202	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581438	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581439	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135678	1.00[ASN][1000 genomes]
rs7138075	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138078	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71449744	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74088117	1.00[ASN][1000 genomes]
rs7959787	1.00[ASN][1000 genomes]
rs937385	0.92[EUR][1000 genomes];1.00[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	nsv1049214	chr12:40197549-40326495	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2757500	chr12:40299913-40331853	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv2759895	chr12:40299913-40331853	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40316200-40329400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40317400-40325400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:40317800-40329200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:40321800-40323600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:40322000-40322800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:40322000-40323000	Enhancers	Brain Germinal Matrix	brain
7	chr12:40322000-40323000	Enhancers	Fetal Brain Male	brain
8	chr12:40322000-40323000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:40322200-40324200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:40322400-40323000	Enhancers	Colon Smooth Muscle	Colon
11	chr12:40322400-40323000	Enhancers	Fetal Brain Female	brain

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