Variant report

Variant	rs12136543
Chromosome Location	chr1:79105588-79105589
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11162518	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11162519	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12117719	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12120385	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12738132	1.00[YRI][hapmap]
rs1333969	1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1413358	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17101968	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35027639	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818763	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820092	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs987495	0.93[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988097	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830315	chr1:79008443-79200591	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv871140	chr1:79095581-79155134	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79086800-79108800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:79088600-79110600	Weak transcription	Fetal Thymus	thymus
3	chr1:79089400-79107200	Weak transcription	Ovary	ovary
4	chr1:79089800-79115000	Weak transcription	Small Intestine	intestine
5	chr1:79090800-79110000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:79090800-79110000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:79094400-79110600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:79094600-79110000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:79094600-79110200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:79094600-79115200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:79095000-79107200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:79099200-79112800	Weak transcription	Lung	lung
13	chr1:79099400-79107200	Weak transcription	Aorta	Aorta
14	chr1:79099400-79107200	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:79101400-79109800	Weak transcription	Primary T cells from cord blood	blood
16	chr1:79101400-79115400	Weak transcription	Left Ventricle	heart
17	chr1:79102200-79114800	Weak transcription	Adipose Nuclei	Adipose
18	chr1:79102600-79109200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:79103000-79111600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:79103000-79112800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:79103400-79106800	Genic enhancers	GM12878-XiMat	blood
22	chr1:79103400-79113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:79104800-79105600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:79105000-79115400	Weak transcription	Psoas Muscle	Psoas
25	chr1:79105400-79107200	Weak transcription	Monocytes-CD14+_RO01746	blood

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