Variant report

Variant	rs1578986
Chromosome Location	chr11:33779565-33779566
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:33779551-33779779	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33777788..33782173-chr11:33783108..33786558,6	K562	blood:

Variant related genes	Relation type
FBXO3	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10836108	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1096558	0.87[ASN][1000 genomes]
rs1096559	0.87[ASN][1000 genomes]
rs1096563	0.87[ASN][1000 genomes]
rs11032363	1.00[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs11032366	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11032374	0.89[EUR][1000 genomes]
rs11032380	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs1112840	0.90[EUR][1000 genomes]
rs12146621	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12282096	0.82[CEU][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs12361553	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs1402953	1.00[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs1402957	0.83[EUR][1000 genomes]
rs1464484	0.85[AMR][1000 genomes]
rs1464486	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464487	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1522087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1738547	0.87[ASN][1000 genomes]
rs1738548	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[ASN][1000 genomes]
rs2056396	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs2140066	0.84[AMR][1000 genomes]
rs2272065	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2901376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181274	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs34944910	0.90[EUR][1000 genomes]
rs35162575	0.90[EUR][1000 genomes]
rs704702	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs704703	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7125621	0.82[CEU][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes]
rs7927218	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs831594	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs831596	0.91[ASW][hapmap];0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831603	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs953871	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv523356	chr11:33777334-33797408	Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1578986	FBXO3	cis	cerebellum	SCAN
rs1578986	APIP	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33758800-33795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:33759000-33780800	Weak transcription	Psoas Muscle	Psoas
3	chr11:33759000-33781000	Weak transcription	Fetal Brain Male	brain
4	chr11:33759000-33795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:33760400-33785200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:33763200-33792200	Strong transcription	Fetal Thymus	thymus
7	chr11:33763200-33792400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:33764000-33781600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:33764200-33792000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:33764400-33791200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:33764400-33792200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:33764400-33792400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr11:33764400-33792400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:33764600-33785200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:33765200-33780000	Weak transcription	Right Ventricle	heart
16	chr11:33765200-33785800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:33765400-33780000	Weak transcription	Aorta	Aorta
18	chr11:33765400-33793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:33766600-33787600	Weak transcription	Stomach Mucosa	stomach
20	chr11:33767200-33780800	Weak transcription	HepG2	liver
21	chr11:33767400-33791400	Strong transcription	Placenta	Placenta
22	chr11:33767600-33785800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:33767600-33792400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:33767800-33781000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:33767800-33784000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:33767800-33784600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:33767800-33785800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:33767800-33792200	Strong transcription	Adipose Nuclei	Adipose
29	chr11:33767800-33792400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:33768000-33785800	Weak transcription	Small Intestine	intestine
31	chr11:33768200-33780000	Weak transcription	K562	blood
32	chr11:33769000-33782200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:33769600-33783800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr11:33769600-33795000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:33769800-33780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:33770000-33780000	Weak transcription	A549	lung
37	chr11:33770200-33791200	Strong transcription	Liver	Liver
38	chr11:33770400-33789200	Weak transcription	NHLF	lung
39	chr11:33770800-33791600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr11:33772200-33785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:33772600-33785400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:33774400-33779800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:33774400-33782400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:33774400-33782600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:33774600-33782600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:33774800-33779600	Strong transcription	Brain Substantia Nigra	brain
47	chr11:33774800-33781800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:33775000-33782200	Strong transcription	Dnd41	blood
49	chr11:33775200-33786200	Weak transcription	Esophagus	oesophagus
50	chr11:33775400-33780600	Weak transcription	Brain Germinal Matrix	brain

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