Variant report

Variant	rs1719994
Chromosome Location	chr4:8370165-8370166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8368733..8370902-chr4:8378657..8380163,2	MCF-7	breast:
2	chr4:8370118..8372500-chr4:8374648..8377546,2	K562	blood:
3	chr4:8366720..8368366-chr4:8370008..8372883,2	K562	blood:

Variant related genes	Relation type
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10030108	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3756187	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3756188	0.81[EUR][1000 genomes]
rs58304442	0.84[AFR][1000 genomes]
rs62285995	0.89[AFR][1000 genomes]
rs735811	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs747580	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs747582	0.90[ASN][1000 genomes]
rs747583	0.90[ASN][1000 genomes]
rs747584	0.90[ASN][1000 genomes]
rs827006	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs827011	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs899490	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1719994	ACOX3	Cis_1M	lymphoblastoid	RTeQTL
rs1719994	ACOX3	cis	multi-tissue	Pritchard
rs1719994	C4orf23	cis	brain	BrainEAC

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8354600-8381000	Weak transcription	Right Atrium	heart
2	chr4:8355800-8384800	Weak transcription	Fetal Lung	lung
3	chr4:8359800-8371800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:8360400-8394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:8360400-8395600	Weak transcription	NHEK	skin
6	chr4:8362000-8395400	Weak transcription	Fetal Brain Male	brain
7	chr4:8362800-8380200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:8364000-8383400	Weak transcription	Colonic Mucosa	Colon
9	chr4:8364000-8388600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:8364200-8387000	Weak transcription	Dnd41	blood
11	chr4:8364600-8376800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:8364600-8378200	Weak transcription	NH-A	brain
13	chr4:8364800-8387000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:8364800-8392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:8365000-8372600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:8365000-8382800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:8365000-8385000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:8365200-8385000	Weak transcription	NHLF	lung
19	chr4:8365400-8371200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:8365400-8376400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:8365400-8383600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:8365600-8382200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:8365600-8388800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:8365800-8383600	Strong transcription	Fetal Stomach	stomach
25	chr4:8366000-8382800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:8366400-8372200	Weak transcription	Fetal Heart	heart
27	chr4:8366400-8376000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:8366400-8378200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:8366400-8378200	Weak transcription	Small Intestine	intestine
30	chr4:8366400-8378600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:8366400-8380600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:8366600-8371000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr4:8366600-8375000	Weak transcription	Brain Substantia Nigra	brain
35	chr4:8366800-8386000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:8366800-8390000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:8367000-8372600	Weak transcription	HSMM	muscle
38	chr4:8367000-8375400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:8367400-8379200	Weak transcription	HSMMtube	muscle
40	chr4:8367400-8384800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr4:8367400-8386800	Weak transcription	Primary B cells from cord blood	blood
42	chr4:8367800-8384800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:8368000-8370600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:8368000-8371200	Weak transcription	Right Ventricle	heart
45	chr4:8368000-8372400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:8368000-8373400	Weak transcription	Brain Anterior Caudate	brain
47	chr4:8368000-8378800	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:8368000-8380600	Weak transcription	Thymus	Thymus
49	chr4:8368200-8372400	Weak transcription	Primary T cells from cord blood	blood
50	chr4:8368200-8372600	Weak transcription	Fetal Intestine Large	intestine

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