Variant report

Variant	rs12278757
Chromosome Location	chr11:36193476-36193477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1014357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836514	0.87[ASN][1000 genomes]
rs11033476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033477	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11499817	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12269916	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12417496	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12417511	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12420381	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575549	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16926221	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4612777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4755439	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs4756291	1.00[ASN][1000 genomes]
rs4756292	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55659003	0.92[ASN][1000 genomes]
rs59459290	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6416082	1.00[ASN][1000 genomes]
rs6416083	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117510	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7121939	0.98[ASN][1000 genomes]
rs72935599	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935601	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929112	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7933303	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7943467	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7943612	1.00[EUR][1000 genomes];0.94[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36184400-36220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:36184800-36206200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:36185200-36203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:36185200-36207800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:36186400-36199800	Weak transcription	HSMMtube	muscle
6	chr11:36186400-36207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:36186600-36196800	Weak transcription	NHEK	skin
8	chr11:36186600-36206000	Weak transcription	HSMM	muscle
9	chr11:36187800-36196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:36187800-36197200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:36188000-36213600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:36189400-36203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:36191400-36194000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:36192600-36203400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:36193200-36193600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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