Variant report

Variant	rs17507114
Chromosome Location	chr1:113943954-113943955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113941512..113944463-chr1:113944848..113948985,5	K562	blood:
2	chr1:113942426..113944033-chr1:113945413..113947084,2	MCF-7	breast:
3	chr1:113930487..113934541-chr1:113941004..113944111,4	K562	blood:
4	chr1:113943430..113947212-chr1:113950458..113953796,3	K562	blood:
5	chr1:113932882..113937661-chr1:113942406..113946072,7	MCF-7	breast:
6	chr1:113934736..113938053-chr1:113941345..113946073,4	K562	blood:
7	chr1:113942048..113944854-chr1:113951173..113953627,2	MCF-7	breast:
8	chr1:113938477..113941904-chr1:113943268..113946445,5	MCF-7	breast:
9	chr1:113930552..113936083-chr1:113941902..113950756,10	MCF-7	breast:
10	chr1:113932799..113934589-chr1:113941238..113945556,5	K562	blood:
11	chr1:113942868..113944463-chr1:113947032..113948985,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12071016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12132889	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12354140	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12739961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1342650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2186051	0.95[ASN][1000 genomes]
rs2359412	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6685909	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6688796	0.86[ASN][1000 genomes]
rs71662825	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71662826	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv999873	chr1:113840351-113949453	Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv1010110	chr1:113856612-113969417	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	nsv1014757	chr1:113861524-113969417	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17507114	MAGI3	cis	Nerve Tibial	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113934800-113945200	Weak transcription	Gastric	stomach
2	chr1:113934800-113945200	Weak transcription	Left Ventricle	heart
3	chr1:113935200-113945400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:113935200-113949400	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:113935600-113949400	Weak transcription	Aorta	Aorta
6	chr1:113936000-113945200	Weak transcription	Right Atrium	heart
7	chr1:113936000-113952400	Weak transcription	Fetal Stomach	stomach
8	chr1:113936800-113945200	Weak transcription	Brain Germinal Matrix	brain
9	chr1:113936800-113945200	Weak transcription	Pancreas	Pancrea
10	chr1:113937200-113948200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:113937600-113945600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:113937600-113947200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:113937600-113963400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:113937800-113946400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:113938000-113946200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:113939600-113947800	Weak transcription	HepG2	liver
17	chr1:113939800-113944000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:113939800-113947200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:113939800-113947200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:113939800-113953400	Weak transcription	NHDF-Ad	bronchial
21	chr1:113940200-113945600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:113940200-113948000	Weak transcription	Liver	Liver
23	chr1:113940200-113952200	Weak transcription	HMEC	breast
24	chr1:113940200-113987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:113940800-113945400	Weak transcription	Fetal Brain Female	brain
26	chr1:113940800-113950000	Weak transcription	Fetal Intestine Large	intestine
27	chr1:113940800-113952200	Weak transcription	Hela-S3	cervix
28	chr1:113941800-113952200	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:113942000-113947200	Weak transcription	Fetal Heart	heart
30	chr1:113942200-113944400	Weak transcription	A549	lung
31	chr1:113942200-113945200	Weak transcription	Ovary	ovary
32	chr1:113942200-113946200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:113942200-113947200	Weak transcription	Fetal Lung	lung
34	chr1:113942200-113947800	Weak transcription	Fetal Intestine Small	intestine
35	chr1:113943000-113944200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:113943200-113944200	Enhancers	HUVEC	blood vessel
37	chr1:113943400-113944200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr1:113943400-113944200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr1:113943400-113944600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:113943600-113944400	Weak transcription	Stomach Mucosa	stomach
41	chr1:113943800-113944600	Enhancers	Fetal Kidney	kidney

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