Variant report

Variant	rs12798517
Chromosome Location	chr11:72988994-72988995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12363628	1.00[MEX][hapmap]
rs12787393	1.00[AFR][1000 genomes]
rs12796417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35173692	1.00[AFR][1000 genomes]
rs35955142	1.00[AFR][1000 genomes]
rs6592518	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7127013	1.00[MEX][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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 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	chr11:72977200-72991600	Weak transcription	Osteobl	bone
2	chr11:72980400-72998400	Weak transcription	Right Atrium	heart
3	chr11:72981200-72991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:72983400-72994600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:72983600-72994200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:72984600-73000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:72985000-72992000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:72986200-72991600	Weak transcription	GM12878-XiMat	blood
9	chr11:72986200-72991800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:72986200-72999800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:72986400-72991600	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:72986600-72990800	Weak transcription	Adipose Nuclei	Adipose
13	chr11:72986800-72991400	Weak transcription	Spleen	Spleen
14	chr11:72986800-72991600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:72986800-72992200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:72986800-72992400	Weak transcription	Esophagus	oesophagus
17	chr11:72987000-72992400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:72987200-72991000	Weak transcription	Placenta	Placenta
19	chr11:72988000-72989000	Enhancers	Fetal Intestine Large	intestine
20	chr11:72988000-72991200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr11:72988200-72991000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:72988400-72989000	Genic enhancers	A549	lung
23	chr11:72988400-72989200	Weak transcription	Fetal Intestine Small	intestine
24	chr11:72988400-72989400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:72988600-72989000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:72988600-72989000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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