Variant report

Variant	rs214938
Chromosome Location	chr11:17188516-17188517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17186616..17189507-chr11:17190943..17193289,3	K562	blood:
2	chr11:17183106..17184886-chr11:17186963..17189434,2	MCF-7	breast:
3	chr11:17182736..17185668-chr11:17187012..17188861,2	K562	blood:

Variant related genes	Relation type
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10832731	0.84[EUR][1000 genomes]
rs11024149	0.85[EUR][1000 genomes]
rs11024151	0.81[EUR][1000 genomes]
rs11608038	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1236311	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12420958	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12577388	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12577418	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12577525	0.87[EUR][1000 genomes]
rs12577815	0.87[EUR][1000 genomes]
rs17472942	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17473243	0.87[EUR][1000 genomes]
rs17560341	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17561348	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17641418	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1987694	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs214903	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214932	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs214933	0.97[EUR][1000 genomes]
rs214934	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34724588	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34941502	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3950680	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs476890	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492263	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs522619	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs569780	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs586785	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60173525	0.87[EUR][1000 genomes]
rs615424	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61879692	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61881877	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61881881	0.86[EUR][1000 genomes]
rs644419	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs664382	0.97[EUR][1000 genomes]
rs665311	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs679201	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7108067	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7478986	0.84[ASN][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	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
4	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
5	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
rs214938	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
2	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
3	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
4	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:17166200-17190200	Weak transcription	NH-A	brain
7	chr11:17167000-17188600	Weak transcription	Fetal Stomach	stomach
8	chr11:17167000-17188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:17167400-17190200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:17167400-17190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
12	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
14	chr11:17168000-17190200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:17168200-17193800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:17169400-17190600	Weak transcription	HSMM	muscle
17	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
18	chr11:17173600-17190200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:17176600-17190200	Weak transcription	Fetal Intestine Large	intestine
20	chr11:17176800-17188600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:17176800-17190200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:17177000-17189200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:17178400-17188600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:17178600-17189800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:17178800-17195000	Weak transcription	Brain Substantia Nigra	brain
26	chr11:17179600-17190000	Weak transcription	Fetal Kidney	kidney
27	chr11:17181400-17194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:17182000-17196800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:17182200-17196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:17182200-17196800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:17182400-17190200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:17184200-17191800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:17184400-17189200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:17184400-17189800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:17184400-17190000	Weak transcription	Dnd41	blood
36	chr11:17184400-17190200	Weak transcription	Primary T cells from cord blood	blood
37	chr11:17184400-17190200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:17184400-17190400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:17184400-17193400	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:17184600-17188600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
42	chr11:17185200-17190200	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:17185200-17195400	Weak transcription	Gastric	stomach
44	chr11:17185400-17188600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:17185800-17189000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:17185800-17190400	Weak transcription	Primary B cells from cord blood	blood
47	chr11:17185800-17193400	Weak transcription	Ovary	ovary
48	chr11:17185800-17207400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:17185800-17212800	Weak transcription	Pancreas	Pancrea
50	chr11:17186000-17188600	Weak transcription	Lung	lung

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