Variant report

Variant	rs56213534
Chromosome Location	chr11:17324948-17324949
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	chr11:17324227..17326282-chr11:17370624..17372568,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1073443	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12575367	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1330	0.92[ASN][1000 genomes]
rs2051773	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214104	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214105	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs214108	0.87[ASN][1000 genomes]
rs2521999	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34452722	0.87[ASN][1000 genomes]
rs55948574	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757081	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv897017	chr11:17318236-17343486	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56213534	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
4	chr11:17299200-17325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:17299200-17329600	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
7	chr11:17299400-17338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:17299400-17355400	Weak transcription	Brain Angular Gyrus	brain
9	chr11:17299400-17357000	Weak transcription	Fetal Intestine Large	intestine
10	chr11:17299600-17335000	Weak transcription	Primary B cells from cord blood	blood
11	chr11:17299800-17327600	Weak transcription	HUVEC	blood vessel
12	chr11:17300200-17335000	Weak transcription	Fetal Brain Male	brain
13	chr11:17301600-17350400	Weak transcription	Fetal Heart	heart
14	chr11:17302600-17329600	Weak transcription	K562	blood
15	chr11:17305800-17332400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:17306200-17353000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:17307600-17328000	Weak transcription	Pancreas	Pancrea
18	chr11:17307800-17333600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:17308200-17335800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:17308200-17353600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:17308200-17357600	Weak transcription	HepG2	liver
22	chr11:17308200-17360800	Strong transcription	Fetal Thymus	thymus
23	chr11:17308200-17372600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:17308400-17335000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:17308400-17335000	Weak transcription	NHLF	lung
26	chr11:17308400-17356800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:17308400-17361600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:17308800-17331800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:17308800-17331800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:17309000-17327400	Weak transcription	Fetal Brain Female	brain
31	chr11:17309000-17331200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:17309000-17355600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:17309400-17335200	Weak transcription	Psoas Muscle	Psoas
34	chr11:17309600-17329600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:17312200-17355400	Weak transcription	Fetal Kidney	kidney
36	chr11:17313800-17335400	Weak transcription	HSMMtube	muscle
37	chr11:17314200-17353400	Weak transcription	Stomach Mucosa	stomach
38	chr11:17314400-17335000	Strong transcription	Dnd41	blood
39	chr11:17315200-17335000	Weak transcription	Colonic Mucosa	Colon
40	chr11:17315400-17335000	Weak transcription	Spleen	Spleen
41	chr11:17315400-17353400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:17316000-17335200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:17316000-17360000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:17316000-17361000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:17316400-17347600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:17316600-17349800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:17317800-17332200	Strong transcription	Thymus	Thymus
48	chr11:17318200-17331200	Weak transcription	HSMM	muscle
49	chr11:17318400-17329400	Weak transcription	NH-A	brain
50	chr11:17318400-17331600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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