Variant report

Variant	rs1380605
Chromosome Location	chr3:53738774-53738775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53734943..53737612-chr3:53737913..53740322,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2633731	0.83[MEX][hapmap];0.80[AMR][1000 genomes]
rs3774531	0.95[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3774533	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3774534	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1380605	C3orf51	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:53715600-53739600	Weak transcription	Brain Anterior Caudate	brain
3	chr3:53721000-53739800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:53723200-53743400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:53724800-53739400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:53726600-53744000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:53726800-53743400	Weak transcription	Spleen	Spleen
8	chr3:53734600-53739000	Strong transcription	Fetal Intestine Small	intestine
9	chr3:53735600-53740600	Strong transcription	Fetal Intestine Large	intestine
10	chr3:53736200-53738800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:53736200-53740600	Enhancers	Fetal Thymus	thymus
12	chr3:53736600-53739200	Weak transcription	Pancreas	Pancrea
13	chr3:53736800-53738800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:53736800-53744000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:53737400-53739800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr3:53737400-53747800	Weak transcription	Fetal Brain Male	brain
17	chr3:53737800-53739400	Enhancers	Right Ventricle	heart
18	chr3:53737800-53740000	Enhancers	Left Ventricle	heart
19	chr3:53737800-53740400	Enhancers	Right Atrium	heart
20	chr3:53738000-53739000	Enhancers	Fetal Heart	heart
21	chr3:53738000-53739200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:53738000-53739400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:53738400-53739000	Weak transcription	Fetal Lung	lung
24	chr3:53738400-53739200	Enhancers	Adipose Nuclei	Adipose
25	chr3:53738400-53741400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:53738600-53739200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:53738600-53739600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr3:53738600-53740000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:53738600-53740000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:53738600-53740400	Enhancers	Fetal Muscle Leg	muscle

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