Variant report

Variant	rs55948574
Chromosome Location	chr11:17310391-17310392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17305212..17308146-chr11:17308901..17311776,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1073443	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12575367	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1330	0.91[ASN][1000 genomes]
rs2051773	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs214070	0.82[AMR][1000 genomes]
rs214072	0.84[AMR][1000 genomes]
rs214090	0.82[AMR][1000 genomes]
rs214091	0.82[AMR][1000 genomes]
rs214104	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214105	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214108	0.91[ASN][1000 genomes]
rs2521999	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34452722	0.83[ASN][1000 genomes]
rs56213534	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757081	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55948574	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

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	chr11:17299400-17317000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:17299400-17317400	Weak transcription	HSMM	muscle
17	chr11:17299400-17318000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:17299400-17318000	Weak transcription	NH-A	brain
19	chr11:17299400-17338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:17299400-17355400	Weak transcription	Brain Angular Gyrus	brain
21	chr11:17299400-17357000	Weak transcription	Fetal Intestine Large	intestine
22	chr11:17299600-17311000	Weak transcription	NHDF-Ad	bronchial
23	chr11:17299600-17335000	Weak transcription	Primary B cells from cord blood	blood
24	chr11:17299800-17327600	Weak transcription	HUVEC	blood vessel
25	chr11:17300200-17314800	Weak transcription	GM12878-XiMat	blood
26	chr11:17300200-17335000	Weak transcription	Fetal Brain Male	brain
27	chr11:17301600-17350400	Weak transcription	Fetal Heart	heart
28	chr11:17302200-17321800	Weak transcription	NHEK	skin
29	chr11:17302400-17313800	Weak transcription	Stomach Mucosa	stomach
30	chr11:17302600-17329600	Weak transcription	K562	blood
31	chr11:17304400-17311400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:17305600-17310400	Strong transcription	Fetal Stomach	stomach
33	chr11:17305800-17332400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:17306000-17311800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:17306200-17312200	Strong transcription	Thymus	Thymus
36	chr11:17306200-17353000	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:17307400-17310800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:17307600-17328000	Weak transcription	Pancreas	Pancrea
39	chr11:17307800-17310800	Weak transcription	HSMMtube	muscle
40	chr11:17307800-17311000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr11:17307800-17312600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:17307800-17333600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:17308000-17310600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:17308000-17316200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:17308200-17310600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:17308200-17313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:17308200-17317200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:17308200-17318000	Weak transcription	Adipose Nuclei	Adipose
49	chr11:17308200-17323000	Weak transcription	Lung	lung
50	chr11:17308200-17335800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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