Variant report

Variant	rs17363158
Chromosome Location	chr5:14668165-14668166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:14667961-14668832	GM12891	blood:	n/a	n/a
2	NFIC	chr5:14667942-14668912	GM12878	blood:	n/a	n/a
3	RELA	chr5:14668149-14668776	GM19099	blood:	n/a	n/a
4	TBP	chr5:14668161-14669021	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:14667864-14668289	GM12891	blood:	n/a	n/a
6	RUNX3	chr5:14667737-14668927	GM12878	blood:	n/a	n/a
7	RELA	chr5:14668108-14668985	GM18505	blood:	n/a	n/a
8	RELA	chr5:14667863-14668803	GM12891	blood:	n/a	n/a
9	HCFC1	chr5:14663672-14668468	Hela-S3	cervix:	n/a	n/a
10	RELA	chr5:14668011-14668815	GM19193	blood:	n/a	n/a
11	NFATC1	chr5:14667941-14668886	GM12878	blood:	n/a	n/a
12	FOXM1	chr5:14667924-14668847	GM12878	blood:	n/a	n/a
13	MXI1	chr5:14668116-14668802	GM12878	blood:	n/a	n/a
14	WRNIP1	chr5:14667322-14668730	GM12878	blood:	n/a	n/a
15	MTA3	chr5:14667860-14668942	GM12878	blood:	n/a	n/a
16	RELA	chr5:14668003-14668784	GM18951	blood:	n/a	n/a
17	RUNX3	chr5:14667964-14668851	GM12878	blood:	n/a	n/a
18	MTA3	chr5:14667817-14668864	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:14667805-14668829	GM12878	blood:	n/a	n/a
20	BHLHE40	chr5:14667972-14668878	GM12878	blood:	n/a	n/a
21	CHD1	chr5:14668039-14668802	GM12878	blood:	n/a	n/a
22	PML	chr5:14667809-14668861	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:14667585-14668846	GM12878	blood:	n/a	n/a
24	ZNF384	chr5:14668163-14668435	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:14668071-14668798	GM12892	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:
2	chr5:14664510..14666859-chr5:14666995..14670129,4	MCF-7	breast:
3	chr5:14666421..14668371-chr5:14694301..14697182,2	K562	blood:
4	chr5:14666399..14668895-chr5:14676273..14677945,2	MCF-7	breast:
5	chr5:14667600..14670326-chr5:14676712..14678274,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261360	TF binding region
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10038397	0.98[EUR][1000 genomes]
rs10065032	1.00[EUR][1000 genomes]
rs10078863	0.91[EUR][1000 genomes]
rs17364066	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs250438	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs3045	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs58936946	0.96[EUR][1000 genomes]
rs59980057	0.93[EUR][1000 genomes]
rs60501770	1.00[EUR][1000 genomes]
rs6884420	1.00[EUR][1000 genomes]
rs6886163	1.00[EUR][1000 genomes]
rs6892588	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs89356	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs9885040	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17363158	FAM105B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14665600-14676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:14665800-14668600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr5:14666000-14668800	Enhancers	Small Intestine	intestine
4	chr5:14666200-14668400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:14666200-14668800	Enhancers	Fetal Heart	heart
6	chr5:14666200-14669000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr5:14666200-14672200	Weak transcription	Aorta	Aorta
8	chr5:14666400-14668400	Enhancers	Colon Smooth Muscle	Colon
9	chr5:14666400-14669200	Enhancers	Fetal Intestine Large	intestine
10	chr5:14666400-14669800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:14666400-14671200	Weak transcription	Brain Angular Gyrus	brain
12	chr5:14666400-14672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:14666400-14673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:14666400-14673200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:14666400-14674200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr5:14666400-14675600	Weak transcription	Placenta	Placenta
17	chr5:14666400-14678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:14666400-14688200	Weak transcription	Ovary	ovary
20	chr5:14666600-14668400	Transcr. at gene 5' and 3'	Hela-S3	cervix
21	chr5:14666600-14669600	Weak transcription	NH-A	brain
22	chr5:14666600-14671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:14666600-14672000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:14666600-14672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
26	chr5:14666800-14668200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr5:14666800-14668200	Weak transcription	Right Atrium	heart
28	chr5:14666800-14668800	Enhancers	Adipose Nuclei	Adipose
29	chr5:14666800-14668800	Genic enhancers	K562	blood
30	chr5:14666800-14669000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:14666800-14669000	Enhancers	Liver	Liver
32	chr5:14666800-14669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:14666800-14670000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:14666800-14671200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:14666800-14671400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:14666800-14671600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:14666800-14671600	Weak transcription	NHDF-Ad	bronchial
38	chr5:14666800-14672000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:14666800-14672000	Weak transcription	HSMM	muscle
40	chr5:14666800-14672200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:14666800-14675600	Weak transcription	NHLF	lung
42	chr5:14666800-14675800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:14667000-14668200	Enhancers	Stomach Smooth Muscle	stomach
44	chr5:14667000-14668800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:14667000-14668800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr5:14667000-14670000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:14667000-14670600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:14667000-14671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:14667000-14671200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:14667000-14671200	Weak transcription	Brain Hippocampus Middle	brain

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