Variant report

Variant	rs6778745
Chromosome Location	chr3:105544143-105544144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105539575..105542989-chr3:105543009..105546955,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11919893	0.83[CEU][hapmap]
rs12485832	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12487841	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12496588	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12497428	0.83[CEU][hapmap]
rs12632980	0.83[CEU][hapmap]
rs13090949	0.83[CEU][hapmap]
rs13433776	0.83[CEU][hapmap]
rs2455887	0.86[ASN][1000 genomes]
rs3772512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772536	0.86[ASW][hapmap]
rs56344829	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58882222	0.86[ASN][1000 genomes]
rs6437616	0.88[CEU][hapmap]
rs6437623	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6780432	0.83[CEU][hapmap]
rs6791765	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793018	1.00[ASN][1000 genomes]
rs6796362	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997629	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997684	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7634195	0.83[CEU][hapmap]
rs7638504	0.83[CEU][hapmap]
rs7639888	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7650147	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894541	0.83[CEU][hapmap]
rs9657910	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs9811776	0.83[CEU][hapmap]
rs9814582	0.83[CEU][hapmap]
rs9820060	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838755	0.83[CEU][hapmap]
rs9841798	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9872895	0.81[CEU][hapmap]
rs9876110	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9880744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6778745	CBLB	cis	multi-tissue	Pritchard

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
2	chr3:105505000-105548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:105511400-105566400	Weak transcription	Aorta	Aorta
4	chr3:105521200-105546800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:105528400-105553600	Weak transcription	Fetal Kidney	kidney
6	chr3:105529000-105546600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:105531400-105546600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:105531600-105546400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:105532200-105563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:105533600-105560600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:105533800-105570000	Weak transcription	Dnd41	blood
12	chr3:105534200-105566200	Weak transcription	Brain Germinal Matrix	brain
13	chr3:105534400-105546600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:105535600-105553800	Weak transcription	Fetal Brain Male	brain
15	chr3:105537800-105546800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:105538800-105545000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:105539200-105546200	Weak transcription	Esophagus	oesophagus
18	chr3:105539400-105551600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:105539800-105544400	Enhancers	Stomach Mucosa	stomach
20	chr3:105540000-105544200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr3:105540200-105544200	Genic enhancers	Osteobl	bone
22	chr3:105540400-105544400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:105540400-105545000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr3:105540800-105569600	Weak transcription	Fetal Thymus	thymus
25	chr3:105541000-105554400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:105541400-105548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:105541800-105553600	Weak transcription	Fetal Brain Female	brain
28	chr3:105542000-105544200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:105542200-105544400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:105542200-105546400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:105542200-105553600	Weak transcription	Liver	Liver
32	chr3:105542200-105554000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:105542400-105544200	Enhancers	Fetal Heart	heart
34	chr3:105542400-105548200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:105542600-105544200	Enhancers	Left Ventricle	heart
36	chr3:105542600-105546200	Weak transcription	GM12878-XiMat	blood
37	chr3:105542600-105548200	Weak transcription	Pancreas	Pancrea
38	chr3:105542600-105555400	Weak transcription	Brain Angular Gyrus	brain
39	chr3:105542600-105566000	Weak transcription	Fetal Stomach	stomach
40	chr3:105542800-105544200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:105542800-105544400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr3:105542800-105545600	Strong transcription	Primary B cells from cord blood	blood
43	chr3:105542800-105546400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:105542800-105546800	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:105542800-105554400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:105543000-105544200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:105543000-105546400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr3:105543000-105546800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:105543000-105555600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:105543200-105544200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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