Variant report

Variant	rs10832778
Chromosome Location	chr11:17394073-17394074
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17392803..17397590-chr11:17399104..17403536,6	K562	blood:
2	chr11:17392236..17395328-chr11:17396635..17401653,4	K562	blood:
3	chr11:17386801..17391541-chr11:17392806..17398479,7	K562	blood:

Variant related genes	Relation type
ENSG00000260196	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1002226	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10734252	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10832776	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024268	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024271	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12146443	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12146652	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1557765	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2051772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074314	0.84[CEU][hapmap];0.85[AMR][1000 genomes]
rs4439492	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5213	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5215	0.88[CEU][hapmap];0.89[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5219	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7124355	0.82[CHB][hapmap]
rs7484027	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs757110	0.82[CHB][hapmap]
rs7928810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10832778	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs10832778	NCR3LG1	cis	Esophagus Mucosa	GTEx
rs10832778	RP1-239B22.5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17382400-17401200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:17387200-17398600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:17388200-17395200	ZNF genes & repeats	Thymus	Thymus
4	chr11:17388200-17395800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:17388200-17396800	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr11:17388600-17396000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr11:17388600-17396800	ZNF genes & repeats	Dnd41	blood
8	chr11:17388800-17394200	ZNF genes & repeats	HepG2	liver
9	chr11:17388800-17395200	ZNF genes & repeats	Spleen	Spleen
10	chr11:17388800-17395600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
11	chr11:17388800-17395800	ZNF genes & repeats	HSMM	muscle
12	chr11:17388800-17395800	ZNF genes & repeats	NHEK	skin
13	chr11:17388800-17396000	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr11:17389000-17395800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr11:17389000-17398200	ZNF genes & repeats	Ovary	ovary
16	chr11:17389600-17395200	ZNF genes & repeats	Colonic Mucosa	Colon
17	chr11:17389600-17395400	ZNF genes & repeats	HSMMtube	muscle
18	chr11:17389600-17395800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr11:17389600-17396000	ZNF genes & repeats	Fetal Brain Female	brain
20	chr11:17389800-17394200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
21	chr11:17389800-17394800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:17389800-17394800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr11:17389800-17395000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:17389800-17395200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:17389800-17395200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:17389800-17395200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
27	chr11:17389800-17395600	ZNF genes & repeats	Aorta	Aorta
28	chr11:17389800-17395800	ZNF genes & repeats	Brain Germinal Matrix	brain
29	chr11:17389800-17397000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:17390000-17394200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
31	chr11:17390000-17394600	ZNF genes & repeats	Brain Substantia Nigra	brain
32	chr11:17390000-17394600	ZNF genes & repeats	K562	blood
33	chr11:17390000-17395000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:17390000-17395000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:17390000-17395000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
36	chr11:17390000-17395200	ZNF genes & repeats	NHDF-Ad	bronchial
37	chr11:17390000-17395800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr11:17390000-17395800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr11:17390000-17395800	ZNF genes & repeats	Left Ventricle	heart
40	chr11:17390000-17397400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr11:17390200-17394600	ZNF genes & repeats	HMEC	breast
42	chr11:17390200-17394800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:17390200-17395000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:17390200-17395600	ZNF genes & repeats	Small Intestine	intestine
45	chr11:17390200-17395800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:17390400-17394400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr11:17390400-17394400	ZNF genes & repeats	NHLF	lung
48	chr11:17390400-17394600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
49	chr11:17390400-17395000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
50	chr11:17390400-17395200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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