Variant report

Variant	rs1322985
Chromosome Location	chr9:14238793-14238794
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14228943..14231168-chr9:14236666..14238906,2	MCF-7	breast:
2	chr9:14236857..14240326-chr9:14312034..14315469,3	MCF-7	breast:
3	chr9:14231565..14234116-chr9:14237847..14240047,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10511590	1.00[CHD][hapmap]
rs10961441	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10961443	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10961444	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1322986	0.82[ASW][hapmap];0.83[MEX][hapmap]
rs1322987	0.83[MEX][hapmap]
rs13284590	1.00[CHD][hapmap]
rs551272	1.00[CHD][hapmap]
rs62532760	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7040053	1.00[CHD][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv892598	chr9:14234315-14274950	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1322985	NFIB	cis	lymphoblastoid	seeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14221200-14245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:14222400-14240600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:14224400-14246800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:14233000-14240200	Weak transcription	Brain Germinal Matrix	brain
5	chr9:14234800-14240200	Enhancers	Fetal Heart	heart
6	chr9:14235000-14239800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr9:14235200-14238800	Enhancers	Fetal Intestine Small	intestine
8	chr9:14235200-14241800	Enhancers	Adipose Nuclei	Adipose
9	chr9:14235400-14239400	Enhancers	Brain Anterior Caudate	brain
10	chr9:14235800-14238800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:14236400-14241400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:14236400-14245400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr9:14236600-14240600	Weak transcription	Small Intestine	intestine
14	chr9:14236800-14239000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:14236800-14239000	Enhancers	NHLF	lung
16	chr9:14237000-14238800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr9:14237000-14238800	Enhancers	Psoas Muscle	Psoas
18	chr9:14237000-14238800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr9:14237000-14239000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr9:14237000-14239800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:14237200-14238800	Enhancers	Left Ventricle	heart
22	chr9:14237200-14239000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr9:14237200-14239200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:14237200-14239400	Enhancers	Stomach Mucosa	stomach
25	chr9:14237200-14240000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:14237200-14240800	Enhancers	Fetal Lung	lung
27	chr9:14237400-14238800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr9:14237400-14238800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr9:14237400-14238800	Enhancers	Aorta	Aorta
30	chr9:14237400-14238800	Enhancers	Right Atrium	heart
31	chr9:14237400-14239000	Weak transcription	Fetal Brain Female	brain
32	chr9:14237400-14239000	Flanking Active TSS	NHEK	skin
33	chr9:14237600-14239200	Enhancers	Duodenum Mucosa	Duodenum
34	chr9:14237600-14239400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:14237600-14240600	Weak transcription	Brain Angular Gyrus	brain
36	chr9:14237800-14238800	Enhancers	HepG2	liver
37	chr9:14237800-14239400	Enhancers	NH-A	brain
38	chr9:14237800-14240200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:14238000-14238800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:14238000-14238800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:14238000-14238800	Enhancers	Fetal Intestine Large	intestine
42	chr9:14238000-14238800	Enhancers	Placenta	Placenta
43	chr9:14238000-14239000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr9:14238000-14239000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr9:14238000-14239000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr9:14238000-14239000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:14238000-14239000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:14238000-14239000	Enhancers	Rectal Smooth Muscle	rectum
49	chr9:14238000-14239000	Enhancers	HSMM	muscle
50	chr9:14238000-14239200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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