Variant report

Variant	rs12151851
Chromosome Location	chr2:153221836-153221837
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11687067	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12478426	0.82[CEU][hapmap]
rs12618892	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16831021	0.87[YRI][hapmap]
rs17398773	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4254462	1.00[YRI][hapmap]
rs4274556	0.86[CEU][hapmap]
rs4442949	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs4444472	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56220036	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433983	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6734534	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6739954	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6754723	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6757784	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6757877	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7565316	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
2	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
5	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach
8	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:153205400-153223800	Weak transcription	HMEC	breast
10	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:153207000-153223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:153209800-153225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:153210800-153223200	Weak transcription	Ovary	ovary
16	chr2:153211000-153223200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:153212000-153223600	Weak transcription	NHEK	skin
18	chr2:153212000-153224200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:153212400-153224200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:153212800-153225600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:153214800-153223800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:153214800-153227600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:153215000-153226000	Weak transcription	Left Ventricle	heart
24	chr2:153215600-153224200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:153216600-153233400	Weak transcription	Fetal Lung	lung
26	chr2:153217400-153223600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:153219000-153224800	Enhancers	Brain Substantia Nigra	brain
28	chr2:153219400-153222600	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:153221000-153222000	Enhancers	Brain Anterior Caudate	brain
30	chr2:153221000-153222600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:153221000-153223200	Weak transcription	GM12878-XiMat	blood
32	chr2:153221600-153222600	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:153221600-153222600	Enhancers	Psoas Muscle	Psoas
34	chr2:153221800-153222000	Enhancers	Brain Angular Gyrus	brain
35	chr2:153221800-153229600	Enhancers	HepG2	liver

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