Variant report

Variant	rs1405098
Chromosome Location	chr11:36271066-36271067
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36270328..36271830-chr11:36277590..36279604,2	K562	blood:
2	chr11:36264165..36267453-chr11:36269765..36272490,3	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10734442	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10742365	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10742367	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10768201	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10768203	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11551023	0.82[CHB][hapmap]
rs11603810	0.82[CHB][hapmap]
rs1374372	0.95[CEU][hapmap];0.93[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1374373	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2197600	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289980	0.82[CHB][hapmap]
rs2422184	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2901671	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4755444	0.94[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs4755448	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4756301	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7110932	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1405098	FJX1	cis	cerebellum	SCAN
rs1405098	EIF3M	cis	cerebellum	SCAN
rs1405098	WT1	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36236800-36273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:36252200-36277800	Weak transcription	Esophagus	oesophagus
3	chr11:36255000-36273000	Weak transcription	Brain Germinal Matrix	brain
4	chr11:36257800-36271600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:36262400-36271600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:36266000-36274400	Weak transcription	Fetal Brain Male	brain
7	chr11:36266200-36271800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:36266400-36272400	Weak transcription	Fetal Brain Female	brain
9	chr11:36269200-36271800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:36270000-36271400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:36270000-36271600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:36270000-36271800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:36270200-36271400	Enhancers	Adipose Nuclei	Adipose
14	chr11:36270200-36271400	Enhancers	NHDF-Ad	bronchial
15	chr11:36270200-36271600	Enhancers	Fetal Kidney	kidney
16	chr11:36270200-36272000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:36270400-36271200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:36270400-36271200	Enhancers	HSMMtube	muscle
19	chr11:36270400-36271400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:36270400-36271400	Enhancers	NH-A	brain
21	chr11:36270400-36271800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:36270400-36271800	Enhancers	NHEK	skin
23	chr11:36270400-36272000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:36270600-36271200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:36270600-36271400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:36270600-36271600	Enhancers	HSMM	muscle
27	chr11:36270600-36271800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:36270600-36272000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:36270600-36272000	Enhancers	Hela-S3	cervix
30	chr11:36270600-36272200	Enhancers	HMEC	breast
31	chr11:36270800-36271200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:36270800-36271400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:36270800-36271600	Enhancers	Osteobl	bone

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