Variant report

Variant	rs12285450
Chromosome Location	chr11:17307688-17307689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17305212..17308146-chr11:17308901..17311776,2	K562	blood:
2	chr11:17298938..17303193-chr11:17304940..17310347,8	K562	blood:
3	chr11:17300662..17302728-chr11:17307021..17310347,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11024238	0.85[AFR][1000 genomes]
rs11024239	0.94[AFR][1000 genomes]
rs12273764	0.83[AFR][1000 genomes]
rs12275573	0.88[AFR][1000 genomes]
rs12275837	0.88[AFR][1000 genomes]
rs12280534	0.94[AFR][1000 genomes]
rs12280741	0.88[AFR][1000 genomes]
rs12286012	0.88[AFR][1000 genomes]
rs12286965	0.91[AFR][1000 genomes]
rs12287274	1.00[AFR][1000 genomes]
rs12288942	0.88[AFR][1000 genomes]
rs12291236	0.88[AFR][1000 genomes]
rs12293814	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1836937	chr11:17291499-17339127	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1799284	chr11:17299390-17343486	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1799280	chr11:17299390-17354775	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	esv1801731	chr11:17299390-17354775	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv524611	chr11:17300844-17316029	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3328825	chr11:17305801-17308549	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17299000-17316200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:17299000-17320000	Weak transcription	Esophagus	oesophagus
3	chr11:17299000-17323200	Weak transcription	Ovary	ovary
4	chr11:17299000-17323400	Weak transcription	Aorta	Aorta
5	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
8	chr11:17299200-17310400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:17299200-17317800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:17299200-17317800	Weak transcription	Right Ventricle	heart
11	chr11:17299200-17319800	Weak transcription	Fetal Intestine Small	intestine
12	chr11:17299200-17325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:17299200-17329600	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:17299400-17307800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:17299400-17307800	Weak transcription	Fetal Brain Female	brain
17	chr11:17299400-17308000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:17299400-17308000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:17299400-17308600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:17299400-17308600	Weak transcription	Brain Germinal Matrix	brain
21	chr11:17299400-17317000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:17299400-17317400	Weak transcription	HSMM	muscle
23	chr11:17299400-17318000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:17299400-17318000	Weak transcription	NH-A	brain
25	chr11:17299400-17338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:17299400-17355400	Weak transcription	Brain Angular Gyrus	brain
27	chr11:17299400-17357000	Weak transcription	Fetal Intestine Large	intestine
28	chr11:17299600-17311000	Weak transcription	NHDF-Ad	bronchial
29	chr11:17299600-17335000	Weak transcription	Primary B cells from cord blood	blood
30	chr11:17299800-17327600	Weak transcription	HUVEC	blood vessel
31	chr11:17300200-17314800	Weak transcription	GM12878-XiMat	blood
32	chr11:17300200-17335000	Weak transcription	Fetal Brain Male	brain
33	chr11:17301200-17310200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:17301600-17350400	Weak transcription	Fetal Heart	heart
35	chr11:17302200-17321800	Weak transcription	NHEK	skin
36	chr11:17302400-17313800	Weak transcription	Stomach Mucosa	stomach
37	chr11:17302600-17308000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:17302600-17329600	Weak transcription	K562	blood
39	chr11:17304400-17308200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:17304400-17308600	Strong transcription	Osteobl	bone
41	chr11:17304400-17310000	Strong transcription	Fetal Lung	lung
42	chr11:17304400-17311400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:17304600-17310000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:17304600-17310200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr11:17304800-17307800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:17304800-17308000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:17304800-17309000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:17304800-17309400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:17304800-17309800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:17304800-17310000	Strong transcription	Liver	Liver

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