Variant report

Variant	rs12132273
Chromosome Location	chr1:77808347-77808348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10873935	1.00[YRI][hapmap]
rs11162318	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584919	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590456	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167202	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs1167212	1.00[CHB][hapmap];0.91[GIH][hapmap];0.83[EUR][1000 genomes]
rs12077763	1.00[CHD][hapmap]
rs12120921	1.00[CHD][hapmap]
rs12124822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126330	0.98[EUR][1000 genomes]
rs12128049	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.87[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133976	1.00[CHB][hapmap]
rs12135843	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136415	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140227	0.80[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141929	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1377737	1.00[CHB][hapmap]
rs1453981	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098287	1.00[CHB][hapmap]
rs17100458	1.00[CHB][hapmap]
rs17100463	1.00[CHB][hapmap]
rs17100476	1.00[CHB][hapmap]
rs17100509	1.00[YRI][hapmap]
rs17100513	1.00[YRI][hapmap]
rs2198511	1.00[YRI][hapmap]
rs2602937	1.00[YRI][hapmap]
rs2815307	1.00[YRI][hapmap]
rs4949773	1.00[CHD][hapmap]
rs4949788	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap]
rs4949791	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4949794	1.00[CHB][hapmap]
rs61096452	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61783074	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784657	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546963	1.00[CHB][hapmap]
rs839828	1.00[YRI][hapmap]

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	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77788800-77813000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:77789000-77813000	Weak transcription	NHLF	lung
3	chr1:77789000-77831200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:77790000-77808600	Weak transcription	HSMM	muscle
5	chr1:77790600-77808600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:77795000-77836400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:77800400-77812800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:77800800-77813400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:77801000-77825800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:77801400-77809800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:77803400-77839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:77803600-77813400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:77804200-77812400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:77805800-77808800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:77805800-77809000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:77806200-77811000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:77806200-77812800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:77806400-77809000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:77807000-77809600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:77807000-77813000	Weak transcription	Brain Substantia Nigra	brain
21	chr1:77807600-77813000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:77807800-77809000	Genic enhancers	NHDF-Ad	bronchial
23	chr1:77808000-77809200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:77808000-77809400	Enhancers	A549	lung
25	chr1:77808200-77808600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:77808200-77809000	Weak transcription	Primary T cells from cord blood	blood

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