Variant report

Variant	rs11794132
Chromosome Location	chr9:110396073-110396074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:110394129..110396586-chr9:110398841..110400820,2	MCF-7	breast:
2	chr9:110248310..110253856-chr9:110387888..110398318,15	MCF-7	breast:
3	chr9:110390994..110392626-chr9:110395732..110398370,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136826	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10978950	0.86[GIH][hapmap]
rs10978956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12339172	1.00[AFR][1000 genomes]
rs12341787	1.00[AFR][1000 genomes]
rs12345691	1.00[AFR][1000 genomes]
rs12348111	1.00[AFR][1000 genomes]
rs12352395	1.00[AFR][1000 genomes]
rs62568435	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62569566	1.00[AFR][1000 genomes]
rs7857028	1.00[AFR][1000 genomes]
rs7870632	1.00[AFR][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	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv831683	chr9:110275212-110461288	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv893700	chr9:110365337-110451516	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11794132	NIPSNAP3B	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110387000-110399600	Weak transcription	Colonic Mucosa	Colon
2	chr9:110390400-110399600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:110390400-110400000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:110391800-110399600	Weak transcription	Pancreas	Pancrea
5	chr9:110392600-110399200	Weak transcription	Spleen	Spleen
6	chr9:110393200-110397800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr9:110393400-110396400	Enhancers	Fetal Muscle Leg	muscle
8	chr9:110393400-110397800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr9:110393400-110397800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:110393600-110396200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr9:110393600-110396200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:110393600-110396200	Enhancers	Fetal Lung	lung
13	chr9:110393600-110396400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr9:110393600-110396400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:110393600-110396400	Enhancers	Fetal Stomach	stomach
16	chr9:110393600-110399200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:110393800-110396200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr9:110393800-110396200	Enhancers	Fetal Kidney	kidney
19	chr9:110393800-110396400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:110393800-110396600	Enhancers	Fetal Intestine Small	intestine
21	chr9:110394000-110396200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:110394000-110396200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr9:110394200-110396400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr9:110394400-110397800	Weak transcription	Brain Anterior Caudate	brain
25	chr9:110394400-110398000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:110394600-110397200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:110394600-110397800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:110394600-110398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:110394800-110396200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:110394800-110398200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:110394800-110399000	Weak transcription	Colon Smooth Muscle	Colon
32	chr9:110394800-110399200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:110394800-110399200	Weak transcription	Ovary	ovary
34	chr9:110394800-110399400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:110394800-110399600	Weak transcription	Lung	lung
36	chr9:110395000-110398800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr9:110395200-110396200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr9:110395400-110396400	Enhancers	Fetal Intestine Large	intestine
39	chr9:110395600-110396200	Enhancers	Rectal Smooth Muscle	rectum
40	chr9:110395600-110396400	Enhancers	Stomach Mucosa	stomach
41	chr9:110395600-110397600	Weak transcription	Fetal Brain Female	brain
42	chr9:110395600-110399400	Weak transcription	Fetal Brain Male	brain
43	chr9:110395800-110396200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr9:110395800-110396200	Enhancers	Adipose Nuclei	Adipose
45	chr9:110395800-110396200	Enhancers	Fetal Thymus	thymus
46	chr9:110395800-110396200	Enhancers	Gastric	stomach
47	chr9:110395800-110396200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr9:110395800-110396200	Flanking Active TSS	NHDF-Ad	bronchial
49	chr9:110395800-110396400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:110395800-110396400	Enhancers	Liver	Liver

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