Variant report

Variant	rs11748369
Chromosome Location	chr5:126133089-126133090
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	chr5:126125295..126130824-chr5:126132329..126136999,5	K562	blood:
2	chr5:126111502..126113719-chr5:126132714..126135080,2	K562	blood:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11241908	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11241910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11741648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11748362	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12514715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12523041	0.81[CHB][hapmap];0.84[CHD][hapmap];0.93[YRI][hapmap]
rs13176550	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13181450	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17598783	0.81[CHB][hapmap];0.84[CHD][hapmap];0.82[YRI][hapmap]
rs1964723	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2036847	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2271352	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs2408776	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34740558	0.97[ASN][1000 genomes]
rs35091677	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35156477	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35500127	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805738	0.94[CEU][hapmap];0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3805744	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3828699	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]
rs57812062	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595736	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6873056	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6873780	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6874037	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6894559	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72798244	0.84[EUR][1000 genomes]
rs7708419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7709312	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[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	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
3	nsv533306	chr5:126122436-126137162	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11748369	FBN2	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
3	chr5:126114600-126161600	Weak transcription	Ovary	ovary
4	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:126115800-126137400	Weak transcription	HSMM	muscle
6	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
8	chr5:126116400-126137000	Weak transcription	Primary T cells from cord blood	blood
9	chr5:126116400-126140000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:126116400-126140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:126116400-126140200	Weak transcription	Thymus	Thymus
12	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
14	chr5:126116600-126140000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:126117000-126135000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
18	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
19	chr5:126118000-126137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:126122600-126141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:126124000-126133200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:126124000-126140200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:126124200-126140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:126124400-126135200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:126124400-126140400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:126124800-126133600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:126124800-126137000	Weak transcription	NHLF	lung
28	chr5:126125400-126133200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:126125400-126135600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:126125400-126135800	Weak transcription	K562	blood
31	chr5:126125400-126136000	Weak transcription	NHDF-Ad	bronchial
32	chr5:126125400-126137000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:126125400-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:126125600-126140400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr5:126126600-126133400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:126127800-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:126128200-126135000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:126128800-126145800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:126129000-126135600	Strong transcription	Dnd41	blood
40	chr5:126129000-126137000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:126129200-126135400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:126129200-126137400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:126129200-126140000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:126129200-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:126129200-126141600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:126129200-126141800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:126129800-126135200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr5:126130000-126133600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr5:126130000-126136200	Strong transcription	Fetal Thymus	thymus
50	chr5:126130400-126133400	Weak transcription	Primary monocytes fromperipheralblood	blood

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