Variant report

Variant	rs9912311
Chromosome Location	chr17:45547132-45547133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11079774	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11079775	0.91[ASN][1000 genomes]
rs11079783	0.85[CEU][hapmap]
rs11655943	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs11870935	0.82[CEU][hapmap];0.84[JPT][hapmap]
rs12449647	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12451409	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12452315	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12452796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12453233	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12603582	1.00[CHB][hapmap]
rs12943464	0.82[CEU][hapmap]
rs12944103	0.84[EUR][1000 genomes]
rs1912482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1912483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1912487	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1962307	0.85[CEU][hapmap]
rs2085755	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2136751	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2175290	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2317631	0.83[ASN][1000 genomes]
rs2317826	0.85[CEU][hapmap];0.84[JPT][hapmap]
rs28458768	0.89[EUR][1000 genomes]
rs28507314	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34537623	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35016056	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3760371	0.85[CEU][hapmap]
rs3809863	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs3883319	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4338849	0.92[ASN][1000 genomes]
rs4497739	0.86[CEU][hapmap]
rs4968317	0.86[EUR][1000 genomes]
rs4968319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4968320	0.83[ASN][1000 genomes]
rs56356751	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56952963	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58512566	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59231671	0.85[EUR][1000 genomes]
rs62076461	0.83[ASN][1000 genomes]
rs62076540	0.83[EUR][1000 genomes]
rs62076542	0.90[ASN][1000 genomes]
rs6504872	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs67688344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7206971	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7208530	0.88[EUR][1000 genomes]
rs7214410	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7214799	0.93[CEU][hapmap]
rs7222225	0.85[CEU][hapmap]
rs8065669	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs8072100	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs8076778	0.83[EUR][1000 genomes]
rs8078686	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs8079744	0.83[EUR][1000 genomes]
rs9889709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9890782	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9892497	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9892686	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9893901	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9894179	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9894905	0.89[ASN][1000 genomes]
rs9895274	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9895746	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9897492	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9900360	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9900366	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9902574	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9905308	0.90[CEU][hapmap];1.00[YRI][hapmap]
rs9905581	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9907159	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9908016	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9908393	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9911944	0.86[CEU][hapmap]
rs9912101	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9912592	0.85[EUR][1000 genomes]
rs9914653	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9915919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9912311	TBKBP1	cis	Nerve Tibial	GTEx
rs9912311	TBKBP1	cis	Artery Aorta	GTEx
rs9912311	MRPL45P2	cis	Muscle Skeletal	GTEx
rs9912311	TBKBP1	cis	Artery Tibial	GTEx
rs9912311	MRPL45P2	cis	Skin Sun Exposed Lower leg	GTEx
rs9912311	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs9912311	KPNB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 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	chr17:45505200-45550200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:45507200-45555000	Weak transcription	Fetal Thymus	thymus
11	chr17:45507600-45554200	Weak transcription	Left Ventricle	heart
12	chr17:45512200-45550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:45515400-45551600	Weak transcription	Fetal Intestine Large	intestine
14	chr17:45515600-45554200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:45516000-45556400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr17:45516800-45553200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:45517000-45550600	Weak transcription	Adipose Nuclei	Adipose
18	chr17:45517200-45547600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr17:45517400-45547400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:45517600-45550200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:45518000-45568800	Weak transcription	K562	blood
22	chr17:45518200-45554200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr17:45518400-45550200	Weak transcription	Lung	lung
24	chr17:45518600-45569200	Weak transcription	Brain Anterior Caudate	brain
25	chr17:45519000-45551600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr17:45519400-45569400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr17:45519600-45550200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:45519800-45555000	Weak transcription	Thymus	Thymus
29	chr17:45520000-45550600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:45520200-45549200	Weak transcription	HepG2	liver
31	chr17:45521000-45547200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr17:45521000-45550800	Weak transcription	Osteobl	bone
33	chr17:45523200-45556400	Weak transcription	GM12878-XiMat	blood
34	chr17:45526200-45556000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:45526400-45568800	Weak transcription	Brain Angular Gyrus	brain
36	chr17:45526600-45568800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr17:45527000-45568800	Weak transcription	Colon Smooth Muscle	Colon
38	chr17:45527800-45568800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr17:45528200-45550200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:45528800-45550400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:45529000-45549400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr17:45529800-45558200	Weak transcription	Brain Hippocampus Middle	brain
43	chr17:45530200-45568800	Weak transcription	A549	lung
44	chr17:45530400-45554400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr17:45530600-45550200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:45531000-45550800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:45531200-45560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr17:45531400-45568800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr17:45531600-45555000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr17:45531600-45569200	Weak transcription	Primary T cells from cord blood	blood

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