Variant report

Variant	rs214903
Chromosome Location	chr11:17226607-17226608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17226063..17227781-chr11:17229189..17231639,2	K562	blood:
2	chr11:17224733..17227563-chr11:17228503..17230689,3	K562	blood:
3	chr11:17147840..17149746-chr11:17225161..17227393,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11608038	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1236311	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12420958	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12577388	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12577418	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12577525	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12577815	0.92[EUR][1000 genomes]
rs17472942	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17473243	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17560341	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17561348	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17641418	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1987694	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs214932	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214933	0.94[EUR][1000 genomes]
rs214934	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214938	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34724588	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34941502	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3950680	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs476890	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs492263	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs522619	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs569780	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs586785	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60173525	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs615424	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61879692	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61881877	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61881881	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs644419	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs664382	0.94[EUR][1000 genomes]
rs665311	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679201	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7108067	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs214903	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
2	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
3	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
4	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
5	chr11:17191200-17227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:17194200-17228000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:17197600-17228000	Weak transcription	Brain Angular Gyrus	brain
8	chr11:17203000-17228800	Weak transcription	Spleen	Spleen
9	chr11:17207400-17228200	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:17208800-17227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:17209400-17228000	Weak transcription	K562	blood
12	chr11:17210400-17227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:17210600-17228200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:17210600-17228200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:17210800-17228000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:17212600-17228600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:17213000-17227400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:17213200-17228200	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:17214400-17228000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:17215200-17228000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:17215200-17228000	Weak transcription	Fetal Kidney	kidney
22	chr11:17216000-17227400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:17216000-17227400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr11:17216000-17227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:17216000-17227600	Weak transcription	Liver	Liver
26	chr11:17216000-17228000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:17216000-17228000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:17216000-17228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:17216000-17228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:17216000-17228000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:17216000-17228000	Weak transcription	Brain Anterior Caudate	brain
32	chr11:17216000-17228000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:17216000-17228000	Weak transcription	Fetal Brain Female	brain
34	chr11:17216000-17228000	Weak transcription	Fetal Lung	lung
35	chr11:17216000-17228000	Weak transcription	Placenta	Placenta
36	chr11:17216000-17228200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:17216000-17228200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:17216000-17228200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:17216000-17228200	Weak transcription	NH-A	brain
40	chr11:17216000-17228400	Weak transcription	Ovary	ovary
41	chr11:17216200-17227400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:17216200-17227600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:17216200-17227800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:17216200-17227800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:17216200-17228000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:17216200-17228000	Weak transcription	Primary T cells from cord blood	blood
47	chr11:17216200-17228000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:17216200-17228000	Weak transcription	Brain Germinal Matrix	brain
49	chr11:17216200-17228200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:17216200-17228600	Weak transcription	Fetal Muscle Trunk	muscle

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