Variant report

Variant	rs4794448
Chromosome Location	chr17:46180807-46180808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr17:46180327-46180823	GM12878	blood:	n/a	n/a
2	SP1	chr17:46180266-46180816	K562	blood:	n/a	n/a
3	SP1	chr17:46180283-46180829	GM12878	blood:	n/a	n/a
4	CBX3	chr17:46180352-46180913	K562	blood:	n/a	n/a
5	SETDB1	chr17:46180192-46180844	U2OS	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46123351..46126971-chr17:46177351..46182209,7	K562	blood:
2	chr17:46174648..46181471-chr17:46183317..46187457,20	MCF-7	breast:
3	chr17:46177349..46182213-chr17:46183318..46186399,5	K562	blood:
4	chr17:46177349..46180853-chr17:46182060..46186447,10	K562	blood:

No data

Variant related genes	Relation type
CBX1	TF binding region
SNX11	TF binding region
ENSG00000002919	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000263412	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1010228	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1010230	0.92[ASN][1000 genomes]
rs10853094	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10853097	0.84[ASN][1000 genomes]
rs11079806	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11079807	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11079808	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079809	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11649919	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11651097	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11655407	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11869625	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12450620	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12600980	1.00[ASN][1000 genomes]
rs12602948	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12936369	0.84[ASN][1000 genomes]
rs12936731	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12939514	0.91[ASN][1000 genomes]
rs12941295	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12943543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12946143	0.91[ASN][1000 genomes]
rs12949879	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12950213	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12950402	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12952163	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1452662	0.81[ASN][1000 genomes]
rs1452663	0.81[ASN][1000 genomes]
rs1452665	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1468270	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16951519	0.91[ASN][1000 genomes]
rs16953927	0.81[ASN][1000 genomes]
rs16953941	0.81[ASN][1000 genomes]
rs1860866	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2051821	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs208005	0.86[ASN][1000 genomes]
rs208008	0.88[ASN][1000 genomes]
rs208009	0.88[ASN][1000 genomes]
rs208011	0.84[ASN][1000 genomes]
rs208012	0.84[ASN][1000 genomes]
rs208015	0.84[ASN][1000 genomes]
rs208019	0.86[ASN][1000 genomes]
rs2109983	0.92[ASN][1000 genomes]
rs2109984	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229369	0.90[ASN][1000 genomes]
rs2240120	0.88[ASN][1000 genomes]
rs2240121	0.91[ASN][1000 genomes]
rs2285863	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2325783	0.91[ASN][1000 genomes]
rs2325784	0.87[ASN][1000 genomes]
rs2325804	0.88[ASN][1000 genomes]
rs2325885	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34980108	0.81[ASN][1000 genomes]
rs35361214	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35688835	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36071506	0.81[ASN][1000 genomes]
rs3744346	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3744347	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3785737	0.96[ASN][1000 genomes]
rs3815472	0.88[ASN][1000 genomes]
rs4794441	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794442	0.83[ASN][1000 genomes]
rs4794443	0.81[AFR][1000 genomes]
rs4794447	0.84[ASN][1000 genomes]
rs4794449	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794450	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4794451	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794453	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4995899	0.91[ASN][1000 genomes]
rs55696440	0.84[ASN][1000 genomes]
rs55920502	0.91[ASN][1000 genomes]
rs58203448	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58595405	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58624511	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62064953	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504024	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6504025	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6504031	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504032	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6847	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71356520	0.90[ASN][1000 genomes]
rs71356521	0.86[ASN][1000 genomes]
rs71369829	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7209585	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7209730	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7212202	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7213339	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7217496	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7218700	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7220520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7221441	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7222136	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7224014	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7224461	0.92[ASN][1000 genomes]
rs741058	0.92[ASN][1000 genomes]
rs8065670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065993	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066049	0.92[ASN][1000 genomes]
rs8066391	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8069889	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8071199	0.98[ASN][1000 genomes]
rs8075500	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8076380	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077860	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078125	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8079616	0.88[ASN][1000 genomes]
rs8080662	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875065	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs875066	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9747001	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs978263	1.00[ASN][1000 genomes]
rs9807087	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9890691	1.00[ASN][1000 genomes]
rs9899275	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9899461	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9903692	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9909933	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9910516	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4794448	SNX11	cis	Skin Sun Exposed Lower leg	GTEx
rs4794448	PNPO	Cis_1M	lymphoblastoid	RTeQTL
rs4794448	SNX11	cis	Whole Blood	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46178400-46184200	Weak transcription	Fetal Heart	heart
2	chr17:46179200-46181000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr17:46179200-46181000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr17:46179200-46181200	Enhancers	Primary hematopoietic stem cells	blood
5	chr17:46179200-46181800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr17:46179200-46183800	Weak transcription	Brain Hippocampus Middle	brain
7	chr17:46179200-46184000	Weak transcription	Spleen	Spleen
8	chr17:46179200-46184000	Weak transcription	HepG2	liver
9	chr17:46179200-46184200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:46179200-46184200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:46179200-46184200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:46179200-46184200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:46179200-46184200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:46179200-46184200	Weak transcription	Left Ventricle	heart
15	chr17:46179200-46184200	Weak transcription	Pancreas	Pancrea
16	chr17:46179200-46184200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr17:46179200-46184400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:46179400-46182400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:46179400-46183800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:46179400-46184000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr17:46179400-46184200	Weak transcription	Primary T cells from cord blood	blood
22	chr17:46179400-46184200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr17:46179400-46184200	Weak transcription	Colonic Mucosa	Colon
24	chr17:46179400-46184200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr17:46179400-46184200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr17:46179600-46183800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:46179600-46184000	Weak transcription	Liver	Liver
28	chr17:46179600-46184000	Weak transcription	Dnd41	blood
29	chr17:46179600-46184000	Weak transcription	Hela-S3	cervix
30	chr17:46179600-46184200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:46179600-46184200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr17:46179600-46184200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr17:46179600-46184200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:46179600-46184200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:46179600-46184200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:46179600-46184200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr17:46179600-46184200	Weak transcription	Colon Smooth Muscle	Colon
38	chr17:46179600-46184200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr17:46179600-46184200	Weak transcription	NHEK	skin
40	chr17:46179600-46184400	Weak transcription	NHDF-Ad	bronchial
41	chr17:46179800-46184400	Weak transcription	Small Intestine	intestine
42	chr17:46180400-46181000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr17:46180400-46181000	Enhancers	Primary B cells from cord blood	blood
44	chr17:46180400-46181000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr17:46180400-46182400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr17:46180600-46181000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:46180600-46181000	ZNF genes & repeats	Fetal Thymus	thymus
48	chr17:46180600-46181200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:46180600-46181200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr17:46180600-46181400	Enhancers	Primary T helper cells PMA-I stimulated	--

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