Variant report

Variant	rs11024116
Chromosome Location	chr11:17045886-17045887
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	chr11:17040265..17042474-chr11:17045522..17047105,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10766373	0.87[ASN][1000 genomes]
rs10832725	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10832727	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832729	0.80[ASN][1000 genomes]
rs11024113	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024130	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024131	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024149	0.87[ASN][1000 genomes]
rs11024151	0.85[ASN][1000 genomes]
rs12288579	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12293395	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12794156	0.87[EUR][1000 genomes]
rs17472886	0.89[ASN][1000 genomes]
rs34902253	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4255517	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4456241	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4468326	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4517490	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030184	0.83[EUR][1000 genomes]
rs61690307	0.81[AMR][1000 genomes]
rs6486345	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6486346	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486347	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486348	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7104247	0.90[ASN][1000 genomes]
rs71047522	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7106954	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7107283	0.84[ASN][1000 genomes]
rs7117166	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7130826	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7924495	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7927240	0.86[ASN][1000 genomes]
rs7929927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930058	0.92[ASN][1000 genomes]
rs7932916	0.83[ASN][1000 genomes]
rs7934571	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7934608	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7934694	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7935162	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7935420	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7935677	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7937880	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7938820	0.86[ASN][1000 genomes]
rs7939614	0.89[ASN][1000 genomes]
rs7939750	0.89[ASN][1000 genomes]
rs7946165	0.89[ASN][1000 genomes]
rs7949405	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7950225	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952426	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9919540	0.89[ASN][1000 genomes]
rs9919600	0.83[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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv825771	chr11:17027229-17048360	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11024116	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17037000-17050200	Weak transcription	Adipose Nuclei	Adipose
2	chr11:17037200-17050400	Weak transcription	Brain Anterior Caudate	brain
3	chr11:17037200-17056000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:17037600-17046400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:17037600-17048400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:17037600-17049400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:17037600-17058400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:17037600-17058600	Weak transcription	Gastric	stomach
9	chr11:17037800-17048200	Weak transcription	Stomach Mucosa	stomach
10	chr11:17037800-17057400	Weak transcription	Fetal Stomach	stomach
11	chr11:17037800-17057800	Weak transcription	Pancreas	Pancrea
12	chr11:17038800-17046200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:17039600-17049600	Weak transcription	Thymus	Thymus
14	chr11:17041200-17051800	Weak transcription	Fetal Intestine Large	intestine
15	chr11:17042400-17048200	Weak transcription	HepG2	liver
16	chr11:17043000-17048400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:17043000-17048600	Weak transcription	HSMM	muscle
18	chr11:17043000-17049000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:17043400-17048000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:17043400-17048200	Weak transcription	Liver	Liver
21	chr11:17045200-17050000	Strong transcription	Fetal Intestine Small	intestine
22	chr11:17045800-17046800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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