Variant report

Variant	rs2638273
Chromosome Location	chr12:40610221-40610222
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40610100-40613194..12:40793507-40812339	K562	blood:

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1352878	1.00[MEX][hapmap];0.87[MKK][hapmap]
rs1352879	1.00[MEX][hapmap];0.87[MKK][hapmap]
rs17489344	1.00[AMR][1000 genomes]
rs17489764	1.00[AMR][1000 genomes]
rs17490062	1.00[AMR][1000 genomes]
rs17490397	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs17518532	1.00[AMR][1000 genomes]
rs17518910	1.00[AMR][1000 genomes]
rs17519034	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2249281	1.00[MEX][hapmap]
rs2252434	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256286	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256408	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708439	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708440	0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708444	0.92[YRI][hapmap]
rs2723256	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2723266	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2723267	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2723272	0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs2723273	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370761	1.00[AMR][1000 genomes]
rs28370790	1.00[AMR][1000 genomes]
rs28370793	1.00[AMR][1000 genomes]
rs7978216	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40604200-40611000	Weak transcription	Fetal Kidney	kidney
2	chr12:40605200-40610400	Weak transcription	A549	lung
3	chr12:40608800-40611400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:40609200-40611200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:40609400-40610800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:40609400-40611000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:40609400-40611000	Enhancers	Hela-S3	cervix
8	chr12:40609400-40611000	Enhancers	HMEC	breast
9	chr12:40609600-40610400	Enhancers	NHEK	skin
10	chr12:40609600-40610600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:40609600-40611000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:40610000-40610400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr12:40610000-40611000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:40610000-40611200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr12:40610200-40611000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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