Variant report

Variant	rs41519545
Chromosome Location	chr17:45811549-45811550
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45806529..45809285-chr17:45811210..45813410,2	MCF-7	breast:
2	chr17:45770364..45773006-chr17:45811021..45813221,2	K562	blood:
3	chr17:45811192..45813329-chr17:45818442..45821780,3	K562	blood:

Variant related genes	Relation type
ENSG00000198933	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11079788	0.96[ASN][1000 genomes]
rs11650354	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11650451	0.90[AMR][1000 genomes]
rs11653146	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657388	0.96[ASN][1000 genomes]
rs11657479	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12451801	0.96[ASN][1000 genomes]
rs17250932	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41321047	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56254413	0.80[AFR][1000 genomes]
rs66490177	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72831632	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7502875	0.92[ASN][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	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
2	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
3	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41519545	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45810000-45812200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
2	chr17:45810200-45811600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr17:45810200-45811600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr17:45810200-45811600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr17:45810200-45811800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr17:45810200-45811800	Bivalent Enhancer	Fetal Heart	heart
7	chr17:45810400-45811600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr17:45810400-45811600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr17:45810400-45811600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
10	chr17:45810400-45811600	Bivalent Enhancer	Fetal Brain Male	brain
11	chr17:45810400-45811600	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr17:45810400-45811800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr17:45810400-45811800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr17:45810400-45811800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr17:45810400-45811800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:45810400-45812000	Active TSS	GM12878-XiMat	blood
17	chr17:45810400-45813200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:45810400-45813200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:45810400-45813400	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr17:45810400-45814000	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr17:45810400-45814400	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr17:45810600-45811600	Bivalent/Poised TSS	Small Intestine	intestine
23	chr17:45810600-45811800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:45810600-45812200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
25	chr17:45810600-45813000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:45810800-45811600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
27	chr17:45810800-45811600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
28	chr17:45810800-45811600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
29	chr17:45810800-45811800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:45810800-45811800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr17:45810800-45812000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:45810800-45812200	Active TSS	Gastric	stomach
33	chr17:45810800-45812200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
34	chr17:45811000-45811600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:45811000-45811600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:45811000-45811600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
37	chr17:45811000-45811600	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr17:45811000-45811600	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr17:45811000-45811800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:45811000-45811800	Enhancers	Lung	lung
41	chr17:45811000-45811800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr17:45811200-45811600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:45811200-45811600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr17:45811200-45811600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr17:45811200-45811600	Flanking Bivalent TSS/Enh	Liver	Liver
46	chr17:45811200-45811600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
47	chr17:45811200-45811600	Bivalent Enhancer	Fetal Lung	lung
48	chr17:45811200-45811600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr17:45811200-45811600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
50	chr17:45811200-45811600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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