Variant report

Variant	rs11786408
Chromosome Location	chr8:130528077-130528078
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130522350..130525139-chr8:130526258..130530480,3	K562	blood:
2	chr8:130520024..130525389-chr8:130526059..130531772,7	K562	blood:
3	chr8:130513260..130514772-chr8:130526514..130529442,2	K562	blood:
4	chr8:130526663..130528640-chr8:130584708..130586467,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10101476	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10106330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774511	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782225	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12545943	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12675978	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1961510	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55977190	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470735	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470738	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67184710	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67751243	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6985031	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6996139	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7000021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7011623	0.93[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7016061	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];0.87[MKK][hapmap];0.81[TSI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814625	0.86[EUR][1000 genomes]
rs7831581	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835768	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839288	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839408	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11786408	PHF20L1	cis	cerebellum	SCAN
rs11786408	CACNB2	trans	lymphoblastoid	seeQTL
rs11786408	PRPF6	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130525400-130528800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:130526000-130528600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:130526000-130528600	Enhancers	NHEK	skin
4	chr8:130526200-130528400	Enhancers	NH-A	brain
5	chr8:130526200-130528600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr8:130526200-130528600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:130526200-130528600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:130526200-130528600	Enhancers	HMEC	breast
9	chr8:130526200-130528800	Enhancers	HSMMtube	muscle
10	chr8:130526200-130529000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:130526200-130529200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:130526400-130528200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:130526400-130528400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:130526400-130528600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:130526400-130528600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:130526400-130528600	Enhancers	NHDF-Ad	bronchial
17	chr8:130526400-130528600	Enhancers	Osteobl	bone
18	chr8:130526400-130528800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:130526400-130528800	Enhancers	HSMM	muscle
20	chr8:130526600-130528400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:130526600-130528400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:130526600-130528400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:130526600-130528400	Enhancers	Fetal Muscle Leg	muscle
24	chr8:130526600-130528600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:130526800-130528400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:130526800-130531800	Strong transcription	K562	blood
27	chr8:130527000-130528200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:130527000-130528400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:130527400-130528400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:130527400-130528400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:130527400-130528600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr8:130527400-130529200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:130527400-130530600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:130527600-130528200	Enhancers	Adipose Nuclei	Adipose
35	chr8:130527600-130528400	Enhancers	A549	lung
36	chr8:130527600-130528600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:130527600-130528600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr8:130527600-130528600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:130527800-130528200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr8:130527800-130528200	Enhancers	Left Ventricle	heart
41	chr8:130527800-130528400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr8:130527800-130528400	Enhancers	Placenta	Placenta
43	chr8:130527800-130528400	Enhancers	Stomach Smooth Muscle	stomach
44	chr8:130527800-130528600	Enhancers	NHLF	lung
45	chr8:130528000-130528200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:130528000-130528200	Flanking Active TSS	Fetal Heart	heart
47	chr8:130528000-130528200	ZNF genes & repeats	Dnd41	blood
48	chr8:130528000-130528800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:130528000-130529000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:130528000-130529400	Enhancers	HUES64 Cell Line	embryonic stem cell

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