Variant report

Variant	rs2087308
Chromosome Location	chr12:10254648-10254649
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:10254500-10254650	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10248204..10251036-chr12:10254144..10255657,2	K562	blood:

Variant related genes	Relation type
CLEC1A	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11053583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11053584	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11053585	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299013	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300411	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305864	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2101466	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4237965	1.00[JPT][hapmap]
rs55909700	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56054444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56915317	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58747130	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60168092	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60752837	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61316374	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61704402	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488260	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294944	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7301063	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7301313	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7301474	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7304980	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7305987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7306132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7306138	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7314731	0.94[AFR][1000 genomes]
rs7962985	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970226	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970236	1.00[JPT][hapmap]
rs7976707	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7979911	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9651848	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10251400-10255400	Enhancers	Placenta	Placenta
2	chr12:10252400-10255800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:10253000-10255000	Enhancers	Fetal Stomach	stomach
4	chr12:10253200-10255000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:10253600-10255400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:10253800-10254800	Enhancers	Fetal Muscle Trunk	muscle
7	chr12:10253800-10255200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:10253800-10255200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:10253800-10255400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:10254000-10254800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:10254000-10254800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:10254200-10254800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:10254200-10254800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr12:10254200-10254800	Enhancers	Rectal Smooth Muscle	rectum
15	chr12:10254200-10255400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:10254200-10255400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr12:10254400-10255200	Enhancers	Colon Smooth Muscle	Colon
18	chr12:10254400-10255200	Weak transcription	Fetal Thymus	thymus
19	chr12:10254600-10255000	Enhancers	Stomach Smooth Muscle	stomach

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