Variant report

Variant	rs9894076
Chromosome Location	chr17:46236107-46236108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46227948..46230342-chr17:46234460..46237346,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11079810	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11079813	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11650476	0.86[EUR][1000 genomes]
rs11654292	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11658242	0.85[AMR][1000 genomes]
rs12103808	0.85[AMR][1000 genomes]
rs1544597	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1975703	0.86[EUR][1000 genomes]
rs28481675	0.86[EUR][1000 genomes]
rs56258199	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60707285	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60843764	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6504067	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6504114	0.86[EUR][1000 genomes]
rs6504115	0.86[EUR][1000 genomes]
rs7207553	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7207937	0.86[EUR][1000 genomes]
rs7210671	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7219844	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7220398	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7221720	0.85[AMR][1000 genomes]
rs7221897	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7222646	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7224155	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7225288	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73322881	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73322886	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73324779	0.86[EUR][1000 genomes]
rs8065797	0.80[AMR][1000 genomes]
rs8071697	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8073220	0.85[AMR][1000 genomes]
rs9890850	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9893110	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9905800	0.85[AMR][1000 genomes]
rs9907268	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9909922	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9894076	RP5-890E16.2	cis	Nerve Tibial	GTEx
rs9894076	PNPO	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr17:46220800-46249000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:46221600-46238400	Weak transcription	Fetal Thymus	thymus
5	chr17:46228400-46236600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr17:46230200-46237400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:46230600-46245000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr17:46231000-46236600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:46231000-46243800	Weak transcription	Primary B cells from cord blood	blood
10	chr17:46231800-46238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:46232000-46236600	Weak transcription	A549	lung
12	chr17:46232000-46238000	Weak transcription	Pancreas	Pancrea
13	chr17:46232000-46239000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:46232000-46239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:46232400-46237000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:46233400-46238200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:46234000-46237000	Weak transcription	HSMMtube	muscle
18	chr17:46234000-46240600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:46234200-46236200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:46234200-46236400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr17:46234200-46236400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr17:46234200-46236400	Weak transcription	Fetal Kidney	kidney
23	chr17:46234200-46236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:46234200-46236800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr17:46234200-46238000	Weak transcription	Thymus	Thymus
26	chr17:46234400-46236200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr17:46234400-46237600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:46234400-46238400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:46234400-46239600	Weak transcription	GM12878-XiMat	blood
30	chr17:46234400-46240600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:46234600-46236200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:46234600-46236400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr17:46234600-46236600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr17:46234600-46236800	Weak transcription	Primary T cells from cord blood	blood
35	chr17:46234800-46236400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr17:46235200-46236600	Weak transcription	Liver	Liver
37	chr17:46235600-46240600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:46236000-46241200	Enhancers	Fetal Intestine Large	intestine
39	chr17:46236000-46250200	Strong transcription	Primary T cells fromperipheralblood	blood

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