Variant report

Variant	rs3774605
Chromosome Location	chr3:53830767-53830768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17053459	0.94[CHD][hapmap]
rs2289212	0.82[CEU][hapmap]
rs3774597	0.83[EUR][1000 genomes]
rs3774598	0.86[CHB][hapmap]
rs3774600	0.84[EUR][1000 genomes]
rs3774601	0.88[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs3774602	0.82[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs3774604	0.81[CEU][hapmap]
rs3774608	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs3774609	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs62250900	0.81[AMR][1000 genomes];0.90[EUR][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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1003204	chr3:53820070-53877149	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1002375	chr3:53822319-53872753	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv876803	chr3:53822893-53889849	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3774605	ABHD14A	cis	parietal	SCAN
rs3774605	RFT1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53811400-53838600	Weak transcription	Spleen	Spleen
2	chr3:53811600-53843600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:53822800-53832000	Weak transcription	Fetal Lung	lung
4	chr3:53823800-53832200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:53824400-53832000	Weak transcription	Fetal Intestine Large	intestine
6	chr3:53827800-53832200	Weak transcription	Fetal Intestine Small	intestine
7	chr3:53829200-53833800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:53829200-53853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:53829400-53830800	Enhancers	Brain Hippocampus Middle	brain
10	chr3:53829600-53838200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:53829800-53833000	Enhancers	Fetal Heart	heart
12	chr3:53829800-53833400	Weak transcription	NHDF-Ad	bronchial
13	chr3:53830000-53830800	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:53830400-53830800	Enhancers	Brain Anterior Caudate	brain
15	chr3:53830400-53833400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:53830400-53839800	Weak transcription	Lung	lung
17	chr3:53830400-53851200	Weak transcription	Fetal Brain Male	brain
18	chr3:53830600-53833000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:53830600-53833600	Weak transcription	Esophagus	oesophagus
20	chr3:53830600-53834000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:53830600-53834200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:53830600-53837400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:53830600-53837800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:53830600-53838000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:53830600-53838600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:53830600-53838600	Weak transcription	Fetal Brain Female	brain
27	chr3:53830600-53840200	Weak transcription	Brain Angular Gyrus	brain
28	chr3:53830600-53840200	Weak transcription	Pancreas	Pancrea

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