Variant report

Variant	rs2382450
Chromosome Location	chr9:14188857-14188858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14179037..14181363-chr9:14186626..14189533,2	K562	blood:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10738355	1.00[CEU][hapmap];0.80[CHB][hapmap];0.82[EUR][1000 genomes]
rs10756532	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs10756536	0.95[CHB][hapmap];1.00[GIH][hapmap];0.80[AMR][1000 genomes]
rs10810104	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10810106	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes]
rs10810110	0.82[CHB][hapmap]
rs10961399	0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs10961402	0.80[CHB][hapmap]
rs10961413	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes]
rs10961414	0.91[CEU][hapmap]
rs12377502	1.00[GIH][hapmap]
rs13287487	0.91[CEU][hapmap]
rs13299433	0.85[ASN][1000 genomes]
rs1873896	0.85[ASN][1000 genomes]
rs2382448	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2382451	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2382454	1.00[CEU][hapmap];0.80[CHB][hapmap];0.85[EUR][1000 genomes]
rs2382456	0.91[CEU][hapmap];0.80[CHB][hapmap]
rs2382457	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2382458	0.91[CEU][hapmap];0.81[CHB][hapmap]
rs2382459	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs28546939	0.85[ASN][1000 genomes]
rs2890982	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2890984	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2890985	1.00[CEU][hapmap]
rs4532695	0.81[EUR][1000 genomes]
rs4551459	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4628344	0.91[CEU][hapmap]
rs6474822	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6474823	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6474824	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs6474825	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7034162	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7035474	0.82[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73413827	0.85[EUR][1000 genomes]
rs9776572	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv892596	chr9:14145487-14208724	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2382450	NFIB	cis	lymphoblastoid	seeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14123800-14198600	Weak transcription	Gastric	stomach
2	chr9:14177200-14203400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr9:14181000-14189200	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:14181000-14189200	Weak transcription	Small Intestine	intestine
5	chr9:14181000-14192400	Weak transcription	Pancreas	Pancrea
6	chr9:14182000-14192400	Weak transcription	Right Atrium	heart
7	chr9:14182000-14197000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:14182000-14198600	Weak transcription	Ovary	ovary
9	chr9:14182400-14189000	Weak transcription	Fetal Brain Female	brain
10	chr9:14182400-14193600	Weak transcription	Brain Hippocampus Middle	brain
11	chr9:14182600-14189000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr9:14182800-14198200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:14183400-14189600	Weak transcription	HUVEC	blood vessel
14	chr9:14183400-14192400	Weak transcription	Left Ventricle	heart
15	chr9:14183400-14192400	Weak transcription	Psoas Muscle	Psoas
16	chr9:14183400-14192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:14183800-14198400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:14185400-14189000	Enhancers	Stomach Mucosa	stomach
19	chr9:14185400-14189800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr9:14185600-14189400	Enhancers	Fetal Heart	heart
21	chr9:14185600-14191200	Enhancers	Fetal Lung	lung
22	chr9:14186000-14198600	Weak transcription	Lung	lung
23	chr9:14186200-14189200	Enhancers	Liver	Liver
24	chr9:14186400-14189200	Weak transcription	NHEK	skin
25	chr9:14186800-14189000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:14186800-14190000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:14186800-14198600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:14187000-14189400	Enhancers	Fetal Brain Male	brain
29	chr9:14187000-14190600	Enhancers	A549	lung
30	chr9:14187200-14189600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:14187200-14192400	Weak transcription	Right Ventricle	heart
32	chr9:14187400-14189800	Enhancers	Colon Smooth Muscle	Colon
33	chr9:14187800-14195600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:14187800-14198400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:14188000-14192400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr9:14188200-14192400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr9:14188200-14193800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr9:14188200-14193800	Weak transcription	HMEC	breast
39	chr9:14188200-14198600	Weak transcription	Fetal Stomach	stomach
40	chr9:14188200-14199000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr9:14188400-14189200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:14188600-14189000	Weak transcription	Adipose Nuclei	Adipose
43	chr9:14188600-14189000	Active TSS	Aorta	Aorta
44	chr9:14188600-14191000	Weak transcription	Brain Germinal Matrix	brain

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