Variant report

Variant	rs6503807
Chromosome Location	chr17:45772932-45772933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45725675..45729413-chr17:45768882..45774493,5	K562	blood:
2	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
3	chr17:45748954..45758231-chr17:45766475..45774270,24	MCF-7	breast:
4	chr17:45759177..45766275-chr17:45767435..45773662,12	K562	blood:
5	chr17:45751758..45755455-chr17:45769353..45774872,5	MCF-7	breast:
6	chr17:45769286..45774957-chr17:48935664..48947128,23	MCF-7	breast:
7	chr17:45770755..45772966-chr17:48944233..48946026,2	MCF-7	breast:
8	chr17:45771011..45773166-chr17:45884072..45886713,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264558	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000263766	Chromatin interaction
ENSG00000108424	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 17 )

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

rs_ID	r²[population]
rs11079783	0.89[CEU][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs11868838	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1808192	0.90[GIH][hapmap]
rs1962307	0.89[CEU][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs2013383	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3760371	0.89[CEU][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs4267364	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4497739	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs4794052	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794053	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074054	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6503804	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214799	0.81[CEU][hapmap]
rs7222225	0.89[CEU][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs8070463	0.80[GIH][hapmap];0.81[TSI][hapmap]
rs8075566	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078309	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913503	0.82[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3342398	chr17:45770478-45773326	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3403096	chr17:45770503-45773351	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	nsv9570	chr17:45770873-45779791	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs6503807	TBKBP1	cis	Artery Tibial	GTEx
rs6503807	TBKBP1	cis	Esophagus Mucosa	GTEx
rs6503807	RAB5C	cis	parietal	SCAN
rs6503807	TBKBP1	cis	multi-tissue	Pritchard
rs6503807	KRT17	cis	cerebellum	SCAN
rs6503807	KRTAP9-3	cis	cerebellum	SCAN
rs6503807	TBKBP1	cis	Artery Aorta	GTEx
rs6503807	C17orf57	cis	cerebellum	SCAN
rs6503807	TBKBP1	cis	Thyroid	GTEx
rs6503807	TBKBP1	cis	lung	GTEx
rs6503807	TBKBP1	cis	Whole Blood	GTEx
rs6503807	TBKBP1	cis	Nerve Tibial	GTEx
rs6503807	HOXB6	cis	cerebellum	SCAN
rs6503807	CDK5RAP3	cis	cerebellum	SCAN
rs6503807	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs6503807	TBKBP1	cis	lymphoblastoid	seeQTL
rs6503807	MRPL45P2	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45770600-45773400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr17:45770600-45773400	Active TSS	Lung	lung
3	chr17:45770800-45773200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:45770800-45773200	Active TSS	Rectal Smooth Muscle	rectum
5	chr17:45770800-45773400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr17:45770800-45773400	Active TSS	Ovary	ovary
7	chr17:45770800-45773600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr17:45770800-45773600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:45770800-45774000	Active TSS	Right Atrium	heart
10	chr17:45770800-45774400	Active TSS	Left Ventricle	heart
11	chr17:45771000-45773000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:45771000-45773200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:45771000-45773200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr17:45771000-45773200	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr17:45771000-45773200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr17:45771000-45773400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:45771000-45773400	Active TSS	Colon Smooth Muscle	Colon
18	chr17:45771000-45773400	Active TSS	Psoas Muscle	Psoas
19	chr17:45771000-45773600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr17:45771000-45773800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr17:45771800-45773000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr17:45771800-45773200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
23	chr17:45772000-45773600	Active TSS	Fetal Kidney	kidney
24	chr17:45772200-45773000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr17:45772200-45773000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:45772200-45773000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr17:45772200-45773000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr17:45772200-45773000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr17:45772200-45773000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:45772200-45773000	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr17:45772200-45773000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr17:45772200-45773000	Flanking Active TSS	HepG2	liver
33	chr17:45772200-45773000	Flanking Active TSS	HMEC	breast
34	chr17:45772200-45773000	Flanking Active TSS	NHEK	skin
35	chr17:45772200-45773200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:45772200-45773200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:45772200-45773200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:45772200-45773200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr17:45772200-45773400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:45772200-45773400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:45772200-45773400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:45772200-45773400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:45772200-45773400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:45772200-45773400	Flanking Active TSS	HUVEC	blood vessel
45	chr17:45772200-45773600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr17:45772200-45773600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr17:45772200-45773600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr17:45772200-45773600	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr17:45772200-45773800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:45772200-45773800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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