Variant report

Variant	rs11730528
Chromosome Location	chr4:8366235-8366236
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	chr4:8362353..8364168-chr4:8365634..8367261,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACOX3-5	chr4:8365860-8366475	NONHSAT095091

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10030108	0.81[AFR][1000 genomes]
rs4696819	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4696821	0.91[ASN][1000 genomes]
rs4696822	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58304442	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62285992	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62285993	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62285994	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62285995	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs899490	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv878605	chr4:8332057-8378959	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878606	chr4:8349738-8377058	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv878607	chr4:8349738-8380857	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv878608	chr4:8349738-8386720	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv461219	chr4:8353829-8390646	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv593637	chr4:8353829-8390646	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv526508	chr4:8357923-8371554	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv966468	chr4:8358228-8374418	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv2295360	chr4:8366060-8366449	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	esv3379874	chr4:8366157-8366321	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	esv999935	chr4:8366198-8366253	Genic enhancers Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11730528	ACOX3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8354400-8367000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:8354400-8367200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:8354600-8381000	Weak transcription	Right Atrium	heart
4	chr4:8355800-8384800	Weak transcription	Fetal Lung	lung
5	chr4:8358400-8366800	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:8358600-8368200	Weak transcription	Fetal Kidney	kidney
7	chr4:8359000-8367200	Weak transcription	Gastric	stomach
8	chr4:8359200-8366800	Weak transcription	Brain Germinal Matrix	brain
9	chr4:8359800-8371800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:8360200-8367000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:8360400-8367000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:8360400-8394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:8360400-8395600	Weak transcription	NHEK	skin
14	chr4:8361400-8366600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:8361800-8366600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:8362000-8395400	Weak transcription	Fetal Brain Male	brain
17	chr4:8362800-8380200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:8363000-8367200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:8363200-8367000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:8363600-8366600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:8363800-8367600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:8363800-8368400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:8363800-8369800	Weak transcription	Psoas Muscle	Psoas
24	chr4:8364000-8383400	Weak transcription	Colonic Mucosa	Colon
25	chr4:8364000-8388600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:8364200-8387000	Weak transcription	Dnd41	blood
27	chr4:8364600-8366400	Enhancers	Fetal Heart	heart
28	chr4:8364600-8376800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:8364600-8378200	Weak transcription	NH-A	brain
30	chr4:8364800-8366800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:8364800-8387000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:8364800-8392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:8365000-8372600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:8365000-8382800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:8365000-8385000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:8365200-8366800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:8365200-8366800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr4:8365200-8385000	Weak transcription	NHLF	lung
39	chr4:8365400-8366400	Enhancers	Left Ventricle	heart
40	chr4:8365400-8367400	Weak transcription	HUVEC	blood vessel
41	chr4:8365400-8368200	Strong transcription	Fetal Intestine Large	intestine
42	chr4:8365400-8369000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr4:8365400-8369800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:8365400-8371200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:8365400-8376400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:8365400-8383600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:8365600-8367200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:8365600-8382200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr4:8365600-8388800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr4:8365800-8366400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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