Variant report

Variant	rs9818551
Chromosome Location	chr3:134529708-134529709
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11709157	1.00[CHB][hapmap]
rs11710344	1.00[CHB][hapmap]
rs11718274	1.00[CHB][hapmap]
rs11718320	1.00[CHB][hapmap]
rs17695812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439526	1.00[CHB][hapmap]
rs73227039	0.81[ASN][1000 genomes]
rs73227041	0.84[EUR][1000 genomes]
rs73227043	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227044	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227047	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651593	1.00[CHB][hapmap]
rs9839234	1.00[CHB][hapmap]
rs9841462	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877515	chr3:134460368-134591138	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9818551	EPHB1	cis	cerebellum	SCAN
rs9818551	FAIM	cis	parietal	SCAN
rs9818551	EPHB1	cis	Esophagus Mucosa	GTEx
rs9818551	MALL	trans	parietal	SCAN
rs9818551	EPHB1	cis	Esophagus Muscularis	GTEx
rs9818551	EPHB1	cis	Artery Tibial	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134523800-134529800	Weak transcription	Pancreas	Pancrea
2	chr3:134524600-134530600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:134525400-134529800	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:134527200-134530000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:134527800-134529800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr3:134527800-134529800	Enhancers	Fetal Intestine Large	intestine
7	chr3:134528000-134529800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:134528000-134531200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:134528200-134529800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:134528200-134530000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:134528200-134530000	Enhancers	Psoas Muscle	Psoas
12	chr3:134528200-134530000	Enhancers	GM12878-XiMat	blood
13	chr3:134528200-134530800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr3:134528200-134531600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr3:134528400-134529800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:134528400-134529800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:134528400-134529800	Enhancers	Fetal Intestine Small	intestine
18	chr3:134528400-134529800	Enhancers	Stomach Mucosa	stomach
19	chr3:134528400-134530000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:134528400-134530000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:134528400-134530000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:134528400-134530000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:134528400-134531200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr3:134528600-134529800	Enhancers	Duodenum Mucosa	Duodenum
25	chr3:134529000-134529800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:134529000-134529800	Enhancers	Brain Hippocampus Middle	brain
27	chr3:134529400-134530000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr3:134529600-134541800	Weak transcription	Fetal Brain Female	brain
29	chr3:134529600-134542600	Weak transcription	Brain Germinal Matrix	brain
30	chr3:134529600-134546400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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