Variant report

Variant	rs12081472
Chromosome Location	chr1:97662410-97662411
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11165802	1.00[CEU][hapmap]
rs11165808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11165844	1.00[MEX][hapmap]
rs11165851	1.00[CEU][hapmap]
rs11799304	1.00[CEU][hapmap]
rs11800171	1.00[CEU][hapmap]
rs11805694	1.00[CEU][hapmap]
rs11806147	1.00[CEU][hapmap]
rs11811238	1.00[CEU][hapmap]
rs11812084	1.00[CEU][hapmap]
rs12032674	1.00[CEU][hapmap]
rs12066332	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082798	1.00[MEX][hapmap]
rs12083975	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093238	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1514496	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1709411	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116566	1.00[CEU][hapmap]
rs1931071	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs4128472	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs4489611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6678229	1.00[MEX][hapmap]
rs6681743	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs6693964	1.00[MEX][hapmap]
rs67908389	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67915441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72726631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965876	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7520949	1.00[MEX][hapmap]
rs7540621	1.00[CEU][hapmap]
rs828056	0.84[AFR][1000 genomes]
rs9727438	1.00[AMR][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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS 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	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97640000-97663000	Weak transcription	Esophagus	oesophagus
2	chr1:97651800-97669800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:97654200-97671200	Weak transcription	Small Intestine	intestine
4	chr1:97656200-97668000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:97656600-97664400	Weak transcription	Fetal Brain Male	brain
6	chr1:97657200-97671200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:97657400-97664800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:97658800-97665800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:97658800-97669400	Weak transcription	Fetal Lung	lung
10	chr1:97658800-97669600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:97658800-97669800	Weak transcription	Adipose Nuclei	Adipose
12	chr1:97658800-97672400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:97658800-97695600	Weak transcription	Primary B cells from cord blood	blood
14	chr1:97659000-97665800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:97659000-97697000	Weak transcription	Liver	Liver
16	chr1:97659200-97663200	Weak transcription	Psoas Muscle	Psoas
17	chr1:97659200-97669600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:97659400-97663800	Weak transcription	Dnd41	blood
19	chr1:97659400-97664400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:97659400-97665800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:97659400-97678200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:97659600-97663400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:97659800-97671400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:97659800-97696000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:97660200-97663200	Weak transcription	Primary T cells from cord blood	blood
26	chr1:97660600-97698600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:97662200-97663400	Enhancers	GM12878-XiMat	blood

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