Variant report

Variant	rs11868838
Chromosome Location	chr17:45777630-45777631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
2	chr17:45775995..45777738-chr17:45793408..45795168,2	MCF-7	breast:
3	chr17:45776981..45779433-chr17:45781232..45782941,2	MCF-7	breast:
4	chr17:45774681..45778561-chr17:45877858..45880734,4	MCF-7	breast:
5	chr17:45777137..45782464-chr17:45784675..45788885,8	K562	blood:
6	chr17:45776678..45779385-chr17:48940666..48944843,3	MCF-7	breast:

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

Extended variants
information (count: 14 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2013383	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4267364	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4794052	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4794053	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62074054	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6503804	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6503807	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8075566	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8078309	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9913503	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11868838	TBKBP1	cis	Esophagus Mucosa	GTEx
rs11868838	TBKBP1	cis	Artery Tibial	GTEx
rs11868838	TBKBP1	cis	Artery Aorta	GTEx
rs11868838	TBKBP1	cis	lung	GTEx
rs11868838	TBKBP1	cis	Whole Blood	GTEx
rs11868838	TBKBP1	cis	Thyroid	GTEx
rs11868838	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs11868838	TBKBP1	cis	Nerve Tibial	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45772600-45777800	Weak transcription	Aorta	Aorta
2	chr17:45772600-45783600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:45772800-45783800	Weak transcription	HSMMtube	muscle
4	chr17:45772800-45783800	Weak transcription	NHDF-Ad	bronchial
5	chr17:45773000-45778400	Weak transcription	K562	blood
6	chr17:45773000-45778800	Weak transcription	NH-A	brain
7	chr17:45773000-45779000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:45773000-45779600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:45773000-45782000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr17:45773000-45783800	Weak transcription	Brain Angular Gyrus	brain
11	chr17:45773200-45777800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:45773200-45777800	Weak transcription	Fetal Intestine Large	intestine
13	chr17:45773200-45781400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr17:45773200-45781400	Weak transcription	NHEK	skin
15	chr17:45773200-45782200	Weak transcription	Brain Substantia Nigra	brain
16	chr17:45773200-45783600	Weak transcription	Brain Anterior Caudate	brain
17	chr17:45773200-45783600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr17:45773400-45777800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:45773400-45778400	Weak transcription	GM12878-XiMat	blood
20	chr17:45773400-45779600	Weak transcription	Primary T cells from cord blood	blood
21	chr17:45773400-45779600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:45773400-45780800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr17:45773400-45781800	Weak transcription	Psoas Muscle	Psoas
24	chr17:45773400-45783800	Weak transcription	Colon Smooth Muscle	Colon
25	chr17:45773400-45783800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr17:45773400-45784800	Weak transcription	Osteobl	bone
27	chr17:45773400-45785600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:45773400-45790600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr17:45773600-45779400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:45773600-45780000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr17:45773600-45780000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr17:45773600-45783800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:45773800-45777800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr17:45773800-45777800	Weak transcription	HUVEC	blood vessel
35	chr17:45773800-45779000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr17:45773800-45779200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr17:45774000-45777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr17:45774000-45778000	Strong transcription	Esophagus	oesophagus
39	chr17:45774000-45780000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr17:45774000-45781800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:45774000-45781800	Weak transcription	Right Atrium	heart
42	chr17:45774000-45783400	Strong transcription	Fetal Intestine Small	intestine
43	chr17:45774200-45779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:45774200-45779600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr17:45774200-45780800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr17:45774200-45783600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr17:45774400-45779800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:45774400-45781400	Weak transcription	Fetal Brain Male	brain
49	chr17:45774600-45778200	Strong transcription	Fetal Lung	lung
50	chr17:45774600-45778600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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