Variant report

Variant	rs1369368
Chromosome Location	chr8:11150213-11150214
allele	G/T
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	GATA3	chr8:11150198-11150504	T-47D	breast:	n/a	n/a
2	FOXA1	chr8:11150206-11150575	T-47D	breast:	n/a	chr8:11150344-11150359
3	EBF1	chr8:11149867-11150226	GM12878	blood:	n/a	n/a
4	RFX5	chr8:11150209-11150579	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11148525..11151324-chr8:11155864..11158358,3	K562	blood:
2	chr8:11141122..11144782-chr8:11147545..11153235,7	MCF-7	breast:
3	chr8:11141173..11146375-chr8:11146983..11151363,11	K562	blood:
4	chr8:11141876..11145971-chr8:11146931..11151363,10	K562	blood:

Variant related genes	Relation type
MTMR9	TF binding region
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10091637	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1036383	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs11782742	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12680792	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1435279	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1529856	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1545073	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17153128	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2016285	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2117616	0.96[CEU][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2245937	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2256016	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2272594	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2293854	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2409754	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2409755	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2572420	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2572426	0.96[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2572428	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2736258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2736261	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2736385	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736387	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2736388	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2736390	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3808507	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808515	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3824212	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4410870	0.88[CEU][hapmap]
rs4515509	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4841517	0.85[EUR][1000 genomes]
rs4841518	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4841519	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7813424	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1369368	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11143000-11162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:11143000-11166400	Weak transcription	Esophagus	oesophagus
3	chr8:11143000-11166400	Weak transcription	Pancreas	Pancrea
4	chr8:11143400-11152800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:11143400-11153000	Weak transcription	NHLF	lung
6	chr8:11143400-11153200	Weak transcription	Fetal Thymus	thymus
7	chr8:11143400-11154000	Weak transcription	Psoas Muscle	Psoas
8	chr8:11143400-11163600	Weak transcription	Brain Angular Gyrus	brain
9	chr8:11143400-11166400	Weak transcription	HSMMtube	muscle
10	chr8:11143800-11153200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:11143800-11169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:11144000-11152800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:11144000-11152800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:11144000-11163200	Weak transcription	Right Ventricle	heart
15	chr8:11144200-11152800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:11144400-11152800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:11144400-11153000	Weak transcription	NHEK	skin
18	chr8:11144400-11156000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:11144600-11153000	Weak transcription	Fetal Kidney	kidney
20	chr8:11144600-11153400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:11144600-11165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:11144800-11152800	Weak transcription	Liver	Liver
23	chr8:11144800-11153000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:11144800-11153000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:11144800-11153200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:11145000-11152600	Weak transcription	Placenta	Placenta
27	chr8:11145000-11152800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:11145000-11152800	Weak transcription	Adipose Nuclei	Adipose
29	chr8:11145000-11152800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:11145000-11152800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:11145000-11153000	Weak transcription	HepG2	liver
32	chr8:11145000-11153200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:11145000-11153800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:11145000-11154000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:11145000-11157400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:11145200-11152800	Weak transcription	Fetal Lung	lung
37	chr8:11145200-11153200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:11145200-11153200	Weak transcription	HMEC	breast
39	chr8:11145200-11155000	Weak transcription	Ovary	ovary
40	chr8:11146000-11152400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:11146400-11152600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:11146400-11152800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:11146400-11152800	Weak transcription	NH-A	brain
44	chr8:11146400-11153000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:11146400-11153200	Weak transcription	Thymus	Thymus
46	chr8:11146400-11162400	Weak transcription	Lung	lung
47	chr8:11146600-11151800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:11146600-11152600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:11146600-11152800	Weak transcription	Fetal Brain Female	brain
50	chr8:11146600-11153000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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