Variant report

Variant	rs34941502
Chromosome Location	chr11:17155432-17155433
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	chr11:17154024..17158946-chr11:17185264..17188139,4	K562	blood:
2	chr11:17098455..17101207-chr11:17153666..17155751,2	K562	blood:

Variant related genes	Relation type
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10832731	0.85[EUR][1000 genomes]
rs11024149	0.86[EUR][1000 genomes]
rs11024151	0.82[EUR][1000 genomes]
rs11608038	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1236311	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420958	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12575466	0.82[ASN][1000 genomes]
rs12577388	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12577418	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12577525	0.84[EUR][1000 genomes]
rs12577815	0.84[EUR][1000 genomes]
rs17472942	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17473243	0.84[EUR][1000 genomes]
rs17560341	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17561348	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17641418	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1987694	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214903	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214932	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214933	0.94[EUR][1000 genomes]
rs214934	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214938	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34724588	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3950680	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs476890	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs492263	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs522619	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs569780	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs586785	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60173525	0.84[EUR][1000 genomes]
rs615424	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61879692	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61881877	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61881881	0.83[EUR][1000 genomes]
rs644419	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs664382	0.94[EUR][1000 genomes]
rs665311	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679201	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7108067	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7478986	0.88[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	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	nsv7691	chr11:17151593-17196894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34941502	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17100400-17157200	Weak transcription	Fetal Heart	heart
2	chr11:17105400-17172800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:17106800-17156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:17107000-17167200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:17108200-17177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:17108600-17172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:17109800-17158400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:17111600-17182000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:17111800-17157800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:17120400-17157800	Weak transcription	Stomach Mucosa	stomach
11	chr11:17120400-17181600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:17120600-17155800	Weak transcription	Esophagus	oesophagus
13	chr11:17120800-17156200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:17120800-17166200	Weak transcription	Pancreas	Pancrea
15	chr11:17120800-17171800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:17120800-17172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:17121000-17178000	Weak transcription	Psoas Muscle	Psoas
18	chr11:17125400-17172200	Weak transcription	Fetal Brain Male	brain
19	chr11:17125800-17181400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:17126800-17186400	Weak transcription	Colonic Mucosa	Colon
21	chr11:17129800-17158200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:17130200-17174600	Weak transcription	Spleen	Spleen
23	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
24	chr11:17132000-17167800	Weak transcription	Right Ventricle	heart
25	chr11:17132200-17155600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:17132200-17156200	Weak transcription	HSMMtube	muscle
27	chr11:17132200-17163200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:17135000-17155800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:17138200-17156000	Weak transcription	Lung	lung
30	chr11:17139000-17171200	Weak transcription	Fetal Brain Female	brain
31	chr11:17140000-17183400	Weak transcription	Small Intestine	intestine
32	chr11:17142800-17156600	Strong transcription	Liver	Liver
33	chr11:17143000-17163800	Weak transcription	Gastric	stomach
34	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
35	chr11:17144600-17166600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:17147800-17158000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:17148000-17158000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:17148400-17158000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:17148800-17158200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:17149400-17157600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr11:17149400-17157800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:17149400-17158000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:17149400-17158200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:17149400-17158200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:17149600-17156600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:17149600-17156600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:17149800-17157400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:17149800-17158000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:17149800-17158000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:17149800-17158200	Strong transcription	Rectal Mucosa Donor 29	rectum

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