Variant report

Variant	rs4793908
Chromosome Location	chr17:45678408-45678409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10163469	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10432035	0.81[ASN][1000 genomes]
rs10853090	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11079779	0.80[EUR][1000 genomes]
rs11079782	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11079783	0.88[AFR][1000 genomes]
rs11079784	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1138193	0.91[ASN][1000 genomes]
rs11650372	0.91[EUR][1000 genomes]
rs11656855	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11870935	0.89[EUR][1000 genomes]
rs11871606	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12150231	0.91[EUR][1000 genomes]
rs12603290	0.86[EUR][1000 genomes]
rs12936468	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12937560	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12943464	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2125873	0.83[ASN][1000 genomes]
rs2317826	0.89[EUR][1000 genomes]
rs35919601	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3760370	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3760371	0.88[AFR][1000 genomes]
rs3809868	0.86[EUR][1000 genomes]
rs3865314	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4092460	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4239162	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4239163	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4264433	0.81[EUR][1000 genomes]
rs4289035	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4375701	0.89[EUR][1000 genomes]
rs4399567	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4580230	0.87[EUR][1000 genomes]
rs4793836	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4793842	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4793913	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793978	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4794001	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4794016	0.90[EUR][1000 genomes]
rs55633793	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55687600	0.80[ASN][1000 genomes]
rs56226803	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62074014	0.83[EUR][1000 genomes]
rs62074015	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6503796	0.84[ASN][1000 genomes]
rs6505048	0.90[AFR][1000 genomes]
rs6505049	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207542	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7210472	0.82[EUR][1000 genomes]
rs7210738	0.85[EUR][1000 genomes]
rs7213086	0.93[ASN][1000 genomes]
rs7214799	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7219303	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7220935	0.93[EUR][1000 genomes]
rs7222225	0.88[AFR][1000 genomes]
rs7223029	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73315878	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8065437	0.91[EUR][1000 genomes]
rs8065669	0.90[EUR][1000 genomes]
rs8070759	0.86[EUR][1000 genomes]
rs8072100	0.94[EUR][1000 genomes]
rs8072644	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8075411	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077106	0.85[EUR][1000 genomes]
rs8078686	0.80[EUR][1000 genomes]
rs8078880	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8081717	0.85[EUR][1000 genomes]
rs8082284	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9635762	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9635763	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9891111	0.97[ASN][1000 genomes]
rs9905583	0.88[EUR][1000 genomes]
rs9905922	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv908570	chr17:45571502-45684651	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1818529	chr17:45583088-45683095	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv471403	chr17:45608444-45700642	Strong transcription Weak transcription Enhancers 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv482203	chr17:45608444-45700642	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	esv1814312	chr17:45611212-45683095	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1847040	chr17:45635179-45683095	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4793908	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs4793908	TBKBP1	cis	Artery Tibial	GTEx
rs4793908	TBKBP1	cis	Nerve Tibial	GTEx
rs4793908	SCRN2	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45637800-45678800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:45644400-45683800	Weak transcription	Spleen	Spleen
3	chr17:45647800-45684800	Weak transcription	Gastric	stomach
4	chr17:45657200-45688200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:45657800-45678800	Weak transcription	NHEK	skin
6	chr17:45659200-45678600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:45659200-45698800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:45662600-45689800	Weak transcription	Psoas Muscle	Psoas
9	chr17:45663800-45702800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr17:45664800-45695000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr17:45665000-45681000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr17:45665600-45680600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:45665600-45686200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:45665600-45698200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:45666000-45694200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:45666200-45688200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:45666800-45687200	Strong transcription	Placenta	Placenta
18	chr17:45666800-45693600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:45667000-45680800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:45667200-45681000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:45667200-45687400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:45667200-45698600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr17:45667400-45682600	Strong transcription	Adipose Nuclei	Adipose
24	chr17:45667400-45685600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr17:45667400-45687400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:45667400-45687800	Strong transcription	Liver	Liver
27	chr17:45667400-45718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr17:45668200-45688400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr17:45668200-45699000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:45669200-45687000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr17:45669200-45687200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr17:45670000-45703000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:45670200-45689000	Weak transcription	Stomach Mucosa	stomach
34	chr17:45670200-45698600	Weak transcription	Fetal Heart	heart
35	chr17:45670400-45681000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:45670400-45686600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr17:45670400-45698200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:45670600-45678600	Strong transcription	Lung	lung
39	chr17:45670600-45680200	Strong transcription	Osteobl	bone
40	chr17:45670600-45681000	Strong transcription	Fetal Stomach	stomach
41	chr17:45670600-45687200	Strong transcription	Fetal Intestine Large	intestine
42	chr17:45672000-45678600	Weak transcription	Fetal Brain Male	brain
43	chr17:45672400-45679800	Strong transcription	HSMM	muscle
44	chr17:45672400-45688000	Strong transcription	Dnd41	blood
45	chr17:45672400-45704200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr17:45672600-45680600	Strong transcription	Fetal Muscle Leg	muscle
47	chr17:45672600-45681000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:45672600-45685400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr17:45672600-45687600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr17:45672600-45688400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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