Variant report

Variant	rs11175620
Chromosome Location	chr12:40610864-40610865
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10878226	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10878246	1.00[YRI][hapmap]
rs11175645	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11175655	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11175658	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11175666	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11564122	1.00[YRI][hapmap]
rs11564273	0.89[AFR][1000 genomes]
rs17442853	0.85[YRI][hapmap]
rs17458836	0.85[YRI][hapmap]
rs17458974	0.83[YRI][hapmap]
rs17519573	1.00[YRI][hapmap]
rs7294619	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7305155	0.88[YRI][hapmap]

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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40604200-40611000	Weak transcription	Fetal Kidney	kidney
2	chr12:40608800-40611400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:40609200-40611200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:40609400-40611000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:40609400-40611000	Enhancers	Hela-S3	cervix
6	chr12:40609400-40611000	Enhancers	HMEC	breast
7	chr12:40609600-40611000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:40610000-40611000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:40610000-40611200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:40610200-40611000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:40610400-40611200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:40610400-40611200	Enhancers	A549	lung
13	chr12:40610400-40611400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr12:40610600-40611200	Active TSS	Primary hematopoietic stem cells	blood
15	chr12:40610800-40611200	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:40610800-40611200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:40610800-40616600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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