Variant report

Variant	rs2085755
Chromosome Location	chr17:45545378-45545379
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10048173	0.81[EUR][1000 genomes]
rs11079774	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs11079775	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11655943	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs11869940	0.81[EUR][1000 genomes]
rs12051716	0.88[EUR][1000 genomes]
rs12103836	0.81[EUR][1000 genomes]
rs12452315	1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12452796	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs12453233	0.83[ASN][1000 genomes]
rs12602134	0.90[EUR][1000 genomes]
rs12603582	1.00[CHB][hapmap]
rs1912482	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs1912483	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs1912487	0.90[ASN][1000 genomes]
rs2136751	0.84[ASN][1000 genomes]
rs2175290	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2317631	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34537623	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35016056	0.81[ASN][1000 genomes]
rs3809863	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs3883319	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4338849	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4968319	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs4968320	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56356751	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56952963	0.89[ASN][1000 genomes]
rs58512566	0.95[ASN][1000 genomes]
rs62076461	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62076542	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62076549	0.82[EUR][1000 genomes]
rs6504872	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67688344	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7206971	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7214410	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7221548	0.87[EUR][1000 genomes]
rs7222851	0.81[EUR][1000 genomes]
rs7350906	0.84[EUR][1000 genomes]
rs7405889	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8065669	0.80[JPT][hapmap]
rs8065990	0.80[EUR][1000 genomes]
rs8067286	0.82[EUR][1000 genomes]
rs8072100	0.80[JPT][hapmap]
rs8074149	0.87[EUR][1000 genomes]
rs8078686	0.84[JPT][hapmap]
rs9889709	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs9892686	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9893901	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs9894905	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9895274	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9895746	0.89[ASN][1000 genomes]
rs9897492	0.86[ASN][1000 genomes]
rs9900360	0.89[ASN][1000 genomes]
rs9900366	0.92[ASN][1000 genomes]
rs9903898	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9908393	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9911944	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9912311	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9914653	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9915919	1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv470590	chr17:45419138-45547077	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv457821	chr17:45419139-45547078	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv575462	chr17:45419139-45547078	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv908566	chr17:45465735-45569714	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1806110	chr17:45477544-45673592	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv908568	chr17:45506682-45590420	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv833468	chr17:45511563-45683164	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv469573	chr17:45511582-45698942	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv471701	chr17:45511583-45698942	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv1793478	chr17:45518444-45671051	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
17	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
18	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
19	nsv908569	chr17:45537395-45603094	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv1808961	chr17:45542951-45664746	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2085755	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs2085755	MRPL45P2	cis	Skin Sun Exposed Lower leg	GTEx
rs2085755	TBKBP1	cis	Nerve Tibial	GTEx
rs2085755	TBKBP1	cis	Artery Tibial	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45501400-45554200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:45501400-45554400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr17:45501600-45555400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:45501600-45556400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr17:45501800-45547400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr17:45501800-45550200	Weak transcription	Ovary	ovary
7	chr17:45502200-45548000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:45502800-45548600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:45503200-45545400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:45505200-45550200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr17:45507200-45555000	Weak transcription	Fetal Thymus	thymus
12	chr17:45507600-45554200	Weak transcription	Left Ventricle	heart
13	chr17:45512200-45550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:45513400-45545400	Weak transcription	Liver	Liver
15	chr17:45515400-45551600	Weak transcription	Fetal Intestine Large	intestine
16	chr17:45515600-45554200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr17:45516000-45556400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr17:45516800-45553200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr17:45517000-45550600	Weak transcription	Adipose Nuclei	Adipose
20	chr17:45517200-45547600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:45517400-45547400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:45517600-45550200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:45518000-45568800	Weak transcription	K562	blood
24	chr17:45518200-45554200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr17:45518400-45545800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:45518400-45550200	Weak transcription	Lung	lung
27	chr17:45518600-45569200	Weak transcription	Brain Anterior Caudate	brain
28	chr17:45519000-45545400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:45519000-45551600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr17:45519400-45569400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr17:45519600-45550200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:45519800-45555000	Weak transcription	Thymus	Thymus
33	chr17:45520000-45550600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr17:45520200-45549200	Weak transcription	HepG2	liver
35	chr17:45521000-45547200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr17:45521000-45550800	Weak transcription	Osteobl	bone
37	chr17:45521400-45545400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:45523200-45556400	Weak transcription	GM12878-XiMat	blood
39	chr17:45526200-45556000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:45526400-45568800	Weak transcription	Brain Angular Gyrus	brain
41	chr17:45526600-45568800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:45527000-45568800	Weak transcription	Colon Smooth Muscle	Colon
43	chr17:45527800-45568800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr17:45528200-45550200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:45528800-45550400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:45529000-45549400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr17:45529800-45558200	Weak transcription	Brain Hippocampus Middle	brain
48	chr17:45530200-45568800	Weak transcription	A549	lung
49	chr17:45530400-45554400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr17:45530600-45550200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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