Variant report

Variant	rs12288951
Chromosome Location	chr11:73011464-73011465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73006667..73009055-chr11:73009354..73011828,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11235722	1.00[AMR][1000 genomes]
rs11235735	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	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
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73000800-73018000	Weak transcription	Pancreas	Pancrea
2	chr11:73004000-73011600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:73006600-73011600	Weak transcription	HSMMtube	muscle
4	chr11:73006600-73018000	Weak transcription	Right Atrium	heart
5	chr11:73006800-73017600	Weak transcription	Fetal Heart	heart
6	chr11:73007000-73017800	Weak transcription	Osteobl	bone
7	chr11:73007200-73011600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:73008200-73017800	Weak transcription	Right Ventricle	heart
9	chr11:73009000-73012200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr11:73009400-73011800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:73009400-73011800	Weak transcription	Spleen	Spleen
12	chr11:73009400-73017200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:73009400-73017400	Weak transcription	A549	lung
14	chr11:73009800-73011600	Weak transcription	Fetal Intestine Large	intestine
15	chr11:73009800-73011800	Weak transcription	Placenta	Placenta
16	chr11:73010200-73012200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:73010200-73012200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr11:73010200-73017400	Weak transcription	Fetal Intestine Small	intestine
19	chr11:73010600-73011800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:73010800-73011800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr11:73010800-73011800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:73010800-73012000	Enhancers	Adipose Nuclei	Adipose
23	chr11:73011000-73011800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:73011000-73012000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr11:73011200-73011600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:73011200-73016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:73011400-73012000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:73011400-73012000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:73011400-73012200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:73011400-73012200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:73011400-73012400	Enhancers	Fetal Muscle Leg	muscle

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