Variant report

Variant	rs3828699
Chromosome Location	chr5:126161266-126161267
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126145135..126148189-chr5:126159181..126162252,3	K562	blood:
2	chr5:126159319..126160839-chr5:126161011..126162528,2	K562	blood:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11241908	0.89[EUR][1000 genomes]
rs11241910	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11741648	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11748362	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11748369	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12514715	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12523041	0.93[YRI][hapmap]
rs13176550	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13181450	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17598783	0.82[YRI][hapmap]
rs1964723	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2036847	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2408776	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35091677	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35156477	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35500127	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3805738	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3805744	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57812062	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595736	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6595738	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6873056	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6873780	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6874037	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6894559	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7708419	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709312	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3828699	FBN2	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126161600	Weak transcription	Ovary	ovary
2	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:126136000-126175200	Strong transcription	Dnd41	blood
4	chr5:126136400-126162400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:126137600-126166600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:126139800-126175400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:126140000-126162000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:126140000-126162200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:126140000-126175200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:126140000-126175400	Strong transcription	Fetal Thymus	thymus
11	chr5:126140200-126161400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:126140200-126161800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:126140200-126162600	Weak transcription	Colonic Mucosa	Colon
14	chr5:126140200-126163400	Weak transcription	Pancreas	Pancrea
15	chr5:126140400-126161800	Weak transcription	Placenta	Placenta
16	chr5:126140400-126162200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:126140600-126161600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:126140800-126161400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:126141000-126177400	Weak transcription	Small Intestine	intestine
20	chr5:126141200-126161400	Weak transcription	Lung	lung
21	chr5:126141200-126181800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:126141400-126174200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:126141600-126162200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:126141600-126167400	Weak transcription	Brain Substantia Nigra	brain
25	chr5:126144200-126161600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr5:126144400-126173200	Weak transcription	Esophagus	oesophagus
27	chr5:126146000-126183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:126146000-126183600	Weak transcription	Left Ventricle	heart
29	chr5:126147400-126161600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:126147600-126161600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr5:126147600-126167600	Strong transcription	GM12878-XiMat	blood
32	chr5:126147800-126161400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:126147800-126161800	Weak transcription	Brain Anterior Caudate	brain
34	chr5:126147800-126165600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:126147800-126170400	Weak transcription	Stomach Mucosa	stomach
36	chr5:126147800-126171600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:126148200-126161400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:126148200-126161400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:126148200-126162200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:126148200-126182400	Weak transcription	HSMMtube	muscle
41	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
42	chr5:126149200-126170000	Weak transcription	Aorta	Aorta
43	chr5:126149600-126181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:126151200-126161800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:126151200-126162600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:126151200-126163200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:126151200-126175200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:126151200-126175400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:126151400-126181400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:126151600-126166600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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