Variant report

Variant	rs17695812
Chromosome Location	chr3:134527923-134527924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11709157	1.00[CHB][hapmap]
rs11710344	1.00[CHB][hapmap]
rs11718274	1.00[CHB][hapmap]
rs11718320	1.00[CHB][hapmap]
rs6439526	1.00[CHB][hapmap]
rs73227034	0.82[EUR][1000 genomes]
rs73227039	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73227041	0.88[EUR][1000 genomes]
rs73227043	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227044	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227047	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651593	1.00[CHB][hapmap]
rs9818551	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]
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
rs17695812	MALL	trans	parietal	SCAN
rs17695812	EPHB1	cis	Esophagus Muscularis	GTEx
rs17695812	EPHB1	cis	Esophagus Mucosa	GTEx
rs17695812	EPHB1	cis	cerebellum	SCAN
rs17695812	EPHB1	cis	Artery Tibial	GTEx
rs17695812	FAIM	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134518400-134528400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:134518600-134528200	Weak transcription	Fetal Brain Female	brain
3	chr3:134519000-134529000	Weak transcription	Fetal Brain Male	brain
4	chr3:134523800-134528400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:134523800-134529800	Weak transcription	Pancreas	Pancrea
6	chr3:134524600-134528600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:134524600-134528800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:134524600-134530600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:134525200-134528400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:134525400-134529800	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:134526200-134528000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:134526200-134528400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:134526200-134528400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:134526400-134528600	Weak transcription	Brain Anterior Caudate	brain
15	chr3:134527000-134528200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:134527000-134528200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:134527000-134529000	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:134527200-134530000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:134527400-134528400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:134527400-134528400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:134527600-134528000	Enhancers	Fetal Intestine Small	intestine
22	chr3:134527800-134528200	Weak transcription	Psoas Muscle	Psoas
23	chr3:134527800-134528200	Weak transcription	GM12878-XiMat	blood
24	chr3:134527800-134529600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:134527800-134529800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr3:134527800-134529800	Enhancers	Fetal Intestine Large	intestine

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