Variant report

Variant	rs72831632
Chromosome Location	chr17:45805177-45805178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45804922..45807833-chr17:45808939..45810972,2	MCF-7	breast:
2	chr17:45795117..45799796-chr17:45800277..45805825,7	K562	blood:
3	chr17:45804962..45806986-chr17:45810086..45812153,2	K562	blood:

Variant related genes	Relation type
ENSG00000073861	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11079788	0.96[ASN][1000 genomes]
rs11650354	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11650451	0.97[AMR][1000 genomes]
rs11651000	0.90[AFR][1000 genomes]
rs11652603	0.82[AFR][1000 genomes]
rs11653146	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655306	0.86[AFR][1000 genomes]
rs11657388	0.96[ASN][1000 genomes]
rs11657479	0.98[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12451801	0.96[ASN][1000 genomes]
rs17250932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41321047	0.98[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41519545	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66490177	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[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
rs72831632	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45790000-45810400	Weak transcription	Right Atrium	heart
2	chr17:45799200-45810800	Weak transcription	Gastric	stomach
3	chr17:45801200-45809800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:45802200-45806200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr17:45803000-45805600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr17:45803400-45805400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr17:45803600-45805400	Enhancers	Fetal Muscle Leg	muscle
8	chr17:45803800-45805200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr17:45804000-45805200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr17:45804200-45805200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:45804400-45805200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:45804400-45805200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:45804400-45805600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:45804600-45805200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:45804600-45805400	Enhancers	Brain Anterior Caudate	brain
16	chr17:45804600-45805600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:45804600-45805600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr17:45804800-45805200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr17:45804800-45805200	Active TSS	Spleen	Spleen
20	chr17:45804800-45808000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr17:45804800-45809200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:45805000-45805800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:45805000-45806800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr17:45805000-45808200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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