Variant report

Variant	rs4968317
Chromosome Location	chr17:45418111-45418112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45417186..45419360-chr17:45433473..45435862,2	K562	blood:
2	chr17:45406105..45410563-chr17:45415777..45418447,5	K562	blood:
3	chr17:45402601..45404438-chr17:45415492..45418430,2	K562	blood:

Variant related genes	Relation type
ENSG00000178852	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11079774	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11079775	0.85[ASN][1000 genomes]
rs11655943	0.84[ASN][1000 genomes]
rs12452315	0.90[ASN][1000 genomes]
rs12452796	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12453233	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12600603	0.82[ASN][1000 genomes]
rs1912482	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1912483	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1912487	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2136751	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2175290	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2317631	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34537623	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35016056	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809863	0.85[ASN][1000 genomes]
rs3883319	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4338849	0.87[ASN][1000 genomes]
rs4968319	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4968320	0.83[ASN][1000 genomes]
rs56356751	0.81[EUR][1000 genomes]
rs56952963	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58512566	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62076461	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504872	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67688344	0.85[EUR][1000 genomes]
rs7206971	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7214410	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7221345	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9303533	0.84[ASN][1000 genomes]
rs9674670	0.85[ASN][1000 genomes]
rs9889709	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9890782	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9892686	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9893901	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9894905	0.90[ASN][1000 genomes]
rs9895746	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9897492	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9900360	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9900366	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9905308	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9908393	0.86[EUR][1000 genomes]
rs9912311	0.86[EUR][1000 genomes]
rs9914653	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9915919	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[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	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	nsv962445	chr17:45397004-45428018	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1062096	chr17:45416538-45518683	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4968317	MRPL45P2	cis	Muscle Skeletal	GTEx
rs4968317	TBKBP1	cis	Nerve Tibial	GTEx
rs4968317	TBKBP1	cis	Artery Tibial	GTEx
rs4968317	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs4968317	KPNB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402000-45428600	Weak transcription	Spleen	Spleen
2	chr17:45402000-45442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:45402200-45420400	Weak transcription	Pancreas	Pancrea
4	chr17:45402200-45446400	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
6	chr17:45402400-45419400	Weak transcription	Liver	Liver
7	chr17:45402400-45419600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:45402400-45421200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:45402400-45421400	Weak transcription	Fetal Kidney	kidney
10	chr17:45402400-45421600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr17:45402400-45423400	Weak transcription	NHDF-Ad	bronchial
12	chr17:45402400-45424200	Weak transcription	Fetal Brain Male	brain
13	chr17:45402400-45427200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:45402400-45428400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr17:45402400-45433600	Weak transcription	Fetal Heart	heart
16	chr17:45402400-45433600	Weak transcription	Fetal Intestine Small	intestine
17	chr17:45402400-45433600	Weak transcription	Fetal Stomach	stomach
18	chr17:45402400-45435800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr17:45402400-45436000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:45402600-45422200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr17:45402600-45423000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:45402600-45423400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:45402600-45424600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr17:45402600-45428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr17:45402800-45422400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr17:45402800-45440800	Weak transcription	Primary T cells from cord blood	blood
27	chr17:45403000-45429400	Weak transcription	Placenta	Placenta
28	chr17:45407600-45435800	Weak transcription	Fetal Intestine Large	intestine
29	chr17:45408200-45421000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr17:45409200-45425200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:45409400-45419600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:45411200-45419000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr17:45411200-45424000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr17:45411400-45419800	Weak transcription	Fetal Lung	lung
35	chr17:45411600-45468200	Weak transcription	Left Ventricle	heart
36	chr17:45412400-45463400	Weak transcription	Gastric	stomach
37	chr17:45413400-45419200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:45413400-45419400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:45413400-45421600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr17:45413400-45423800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:45413400-45463800	Weak transcription	Ovary	ovary
42	chr17:45415200-45418600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr17:45415200-45419600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:45415200-45421600	Weak transcription	Adipose Nuclei	Adipose
45	chr17:45415400-45421600	Weak transcription	Primary B cells from cord blood	blood
46	chr17:45417000-45423000	Weak transcription	Lung	lung
47	chr17:45418000-45420600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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