Variant report

Variant	rs214090
Chromosome Location	chr11:17297161-17297162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:17296867-17297233	HepG2	liver:	n/a	chr11:17297043-17297054
2	CEBPB	chr11:17296631-17297246	K562	blood:	n/a	chr11:17297043-17297054
3	CEBPB	chr11:17296899-17297182	HepG2	liver:	n/a	chr11:17297043-17297054
4	MYC	chr11:17296881-17299148	NB4	blood:	n/a	chr11:17298503-17298513 chr11:17297843-17297853 chr11:17298239-17298248
5	ARID3A	chr11:17296980-17297198	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:17296786-17299401	HL-60	blood:	n/a	n/a
7	POLR2A	chr11:17297045-17299116	Raji	blood:	n/a	n/a
8	JUND	chr11:17296960-17299179	K562	blood:	n/a	chr11:17297455-17297466 chr11:17298209-17298218
9	GATA1	chr11:17296880-17298955	PBDE	blood:	n/a	chr11:17298441-17298451 chr11:17298416-17298429 chr11:17298432-17298449 chr11:17298443-17298450 chr11:17298441-17298450
10	TBL1XR1	chr11:17297133-17297212	K562	blood:	n/a	n/a
11	POLR2A	chr11:17297112-17298908	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:17296905-17299231	HL-60	blood:	n/a	n/a
13	EP300	chr11:17296993-17297226	K562	blood:	n/a	n/a
14	GATA3	chr11:17297161-17297832	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr11:17297112-17297359	HUVEC	blood vessel:	n/a	n/a
16	REST	chr11:17296762-17299322	HL-60	blood:	n/a	chr11:17298500-17298513 chr11:17298301-17298311 chr11:17298339-17298352 chr11:17298339-17298352 chr11:17298085-17298098
17	CEBPB	chr11:17296841-17297229	K562	blood:	n/a	chr11:17297043-17297054
18	CEBPB	chr11:17296698-17297235	HepG2	liver:	n/a	chr11:17297043-17297054
19	MAX	chr11:17296895-17297189	NB4	blood:	n/a	n/a
20	FOXA2	chr11:17296943-17297263	HepG2	liver:	n/a	n/a
21	HCFC1	chr11:17297101-17299769	Hela-S3	cervix:	n/a	n/a
22	GATA3	chr11:17297143-17298337	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:17297062-17297203	HepG2	liver:	n/a	n/a
24	TAL1	chr11:17296909-17297211	K562	blood:	n/a	n/a
25	POLR2A	chr11:17297153-17297180	K562	blood:	n/a	n/a
26	JUND	chr11:17296997-17298029	HepG2	liver:	n/a	chr11:17297455-17297466
27	EP300	chr11:17296940-17297236	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:17296924-17299310	NB4	blood:	n/a	n/a
29	POLR2A	chr11:17296980-17298899	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:17097827..17101102-chr11:17296839..17299555,4	K562	blood:
2	chr11:17297082..17301177-chr11:17313853..17317788,6	K562	blood:
3	chr11:17097070..17101102-chr11:17296326..17299484,3	K562	blood:
4	chr11:17289393..17293255-chr11:17296129..17299283,5	K562	blood:
5	chr11:17290835..17293391-chr11:17295443..17297735,3	K562	blood:
6	chr11:17294885..17299963-chr11:17371989..17377835,11	K562	blood:
7	chr11:17296907..17298912-chr11:17352213..17353767,2	K562	blood:
8	chr11:17286631..17289597-chr11:17295588..17297647,2	MCF-7	breast:
9	chr11:17279766..17282636-chr11:17296129..17298031,2	MCF-7	breast:

Variant related genes	Relation type
NUCB2	TF binding region
ENSG00000070081	Chromatin interaction
ENSG00000201403	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000110700	Chromatin interaction

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

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

rs_ID	r²[population]
rs12577525	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12577815	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17473243	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs214070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214072	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214086	0.94[ASN][1000 genomes]
rs214091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs214098	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55948574	0.82[AMR][1000 genomes]
rs60173525	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61881877	0.80[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs214090	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17286000-17297200	Weak transcription	A549	lung
2	chr11:17286000-17297400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:17293800-17297200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:17294200-17297400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:17294200-17297400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:17294200-17297600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:17294400-17297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:17294400-17297400	Enhancers	Fetal Thymus	thymus
9	chr11:17294400-17297600	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:17294600-17297400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:17294600-17297600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:17294600-17297600	Weak transcription	Aorta	Aorta
13	chr11:17294600-17297600	Weak transcription	HMEC	breast
14	chr11:17294800-17297400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:17294800-17297600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:17295000-17297200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:17295000-17297400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:17295000-17297400	Weak transcription	NHEK	skin
19	chr11:17295000-17297600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:17295000-17297600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:17295400-17297400	Enhancers	K562	blood
22	chr11:17295400-17297600	Enhancers	Placenta	Placenta
23	chr11:17295600-17297200	Enhancers	Thymus	Thymus
24	chr11:17295600-17297400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr11:17295800-17297400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:17295800-17297400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:17295800-17297400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:17295800-17297600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:17295800-17297600	Weak transcription	Esophagus	oesophagus
30	chr11:17296200-17297400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr11:17296400-17297400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr11:17296400-17297400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:17296400-17297600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:17296600-17297400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr11:17296800-17297200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:17296800-17297400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:17296800-17297400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:17297000-17297200	Weak transcription	Brain Anterior Caudate	brain
39	chr11:17297000-17297400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:17297000-17297400	Enhancers	Primary B cells from cord blood	blood
41	chr11:17297000-17297400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:17297000-17297400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:17297000-17297400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:17297000-17297400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr11:17297000-17297400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:17297000-17297400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:17297000-17297400	Enhancers	GM12878-XiMat	blood
48	chr11:17297000-17297400	Enhancers	Hela-S3	cervix
49	chr11:17297000-17297400	Enhancers	NHDF-Ad	bronchial
50	chr11:17297000-17297600	Enhancers	Duodenum Mucosa	Duodenum

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