Variant report

Variant	rs62287362
Chromosome Location	chr4:8443788-8443789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:8443722-8443900	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:8440524-8443902	MCF10A-Er-Src	breast:	n/a	n/a
3	RCOR1	chr4:8443777-8443852	K562	blood:	n/a	n/a
4	EP300	chr4:8443673-8443879	K562	blood:	n/a	n/a
5	RCOR1	chr4:8443641-8443877	K562	blood:	n/a	n/a
6	ATF1	chr4:8441931-8444132	K562	blood:	n/a	n/a
7	MAX	chr4:8443549-8443877	K562	blood:	n/a	n/a
8	MYC	chr4:8443779-8443841	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8443777-8443827	AG09319	gingival:	n/a
2	chr4:8443777-8443827	BE2_C	brain:	n/a
3	chr4:8443777-8443827	HEEpiC	esophagus:	n/a
4	chr4:8443777-8443827	NHBE	bronchial:	n/a
5	chr4:8443777-8443827	AoSMC	blood vessel:	n/a
6	chr4:8443777-8443827	MCF-7	breast:	n/a
7	chr4:8443777-8443827	GM12878	blood:	n/a
8	chr4:8443777-8443827	HIPEpiC	eye:	n/a
9	chr4:8443777-8443827	NT2-D1	testis:	n/a
10	chr4:8443777-8443827	HUVEC	blood vessel:	n/a
11	chr4:8443777-8443827	BJ	skin:	n/a
12	chr4:8443777-8443827	SKMC	muscle:	n/a
13	chr4:8443777-8443827	SK-N-MC	brain:	n/a
14	chr4:8443777-8443827	ProgFib	skin:	n/a
15	chr4:8443777-8443827	Jurkat	blood:	n/a
16	chr4:8443777-8443827	AG10803	skin:	n/a
17	chr4:8443777-8443827	HPAEpiC	pulmonary alveolar:	n/a
18	chr4:8443777-8443827	HCM	heart:	n/a
19	chr4:8443777-8443827	HepG2	liver:	n/a
20	chr4:8443777-8443827	GM12891	blood:	n/a
21	chr4:8443777-8443827	K562	blood:	n/a
22	chr4:8443777-8443827	NHDF-neo	bronchial:	n/a
23	chr4:8443777-8443827	AG04450	lung:	fetal
24	chr4:8443777-8443827	AG09309	skin:	n/a
25	chr4:8443777-8443827	RPTEC	kidney:	n/a
26	chr4:8443777-8443827	NB4	blood:	n/a
27	chr4:8443777-8443827	MCF10A-Er-Src	breast:	n/a
28	chr4:8443777-8443827	HNPCEpiC	eye:	n/a
29	chr4:8443777-8443827	SK-N-SH_RA	brain:	n/a
30	chr4:8443777-8443827	HEK293	kidney:	embryo
31	chr4:8443777-8443827	HCF	heart:	n/a
32	chr4:8443777-8443827	LNCaP	prostate:	n/a
33	chr4:8443777-8443827	NH-A	brain:	n/a
34	chr4:8443777-8443827	SK-N-SH	brain:	n/a
35	chr4:8443777-8443827	GM06990	blood:	n/a
36	chr4:8443777-8443827	PFSK-1	brain:	n/a
37	chr4:8443777-8443827	Hepatocyte	liver:	n/a
38	chr4:8443777-8443827	T-47D	breast:	n/a
39	chr4:8443777-8443827	HMEC	breast:	n/a
40	chr4:8443777-8443827	Hela-S3	cervix:	n/a
41	chr4:8443777-8443827	HCPEpiC	choroid plexus:	n/a
42	chr4:8443777-8443827	PrEC	prostate:	n/a
43	chr4:8443777-8443827	GM19239	blood:	n/a
44	chr4:8443777-8443827	PANC-1	pancreas:	n/a
45	chr4:8443777-8443827	AG04449	skin:	fetal
46	chr4:8443777-8443827	HRE	kidney:	n/a
47	chr4:8443777-8443827	H1-hESC	embryonic stem cell:	embryo
48	chr4:8443777-8443827	A549	lung:	n/a
49	chr4:8443777-8443827	ECC-1	luminal epithelium:	n/a
50	chr4:8443777-8443827	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:8428810..8430394-chr4:8440724..8444143,3	K562	blood:
2	chr4:8439123..8440667-chr4:8441503..8443912,2	K562	blood:
3	chr4:8442733..8444744-chr4:8447806..8449869,2	MCF-7	breast:
4	chr4:8439008..8440667-chr4:8441503..8443852,2	K562	blood:
5	chr4:8428067..8433323-chr4:8440948..8445760,8	K562	blood:

No data

Variant related genes	Relation type
ACOX3	TF binding region
ACOX3	CpG island
ENSG00000087008	Chromatin interaction
ENSG00000155275	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1060617	0.84[EUR][1000 genomes]
rs1106591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13434465	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16842352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17194220	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17201848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17202499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17203215	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17203243	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17806817	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17806883	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17807929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17807994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28507650	0.84[EUR][1000 genomes]
rs28664136	0.84[EUR][1000 genomes]
rs61739067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286002	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286003	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286005	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286035	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286036	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286037	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286038	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286040	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286041	0.84[EUR][1000 genomes]
rs62286042	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286043	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286044	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287391	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62287392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287394	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287406	0.90[EUR][1000 genomes]
rs62287433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287435	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287436	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287439	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287440	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287441	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7686109	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs940132	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8439600-8443800	Active TSS	K562	blood
2	chr4:8441400-8443800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr4:8441400-8444000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:8441600-8443800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr4:8441600-8443800	Active TSS	HSMM	muscle
6	chr4:8441600-8445000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:8441800-8443800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr4:8441800-8443800	Active TSS	Fetal Intestine Large	intestine
9	chr4:8441800-8443800	Active TSS	Lung	lung
10	chr4:8441800-8444200	Active TSS	A549	lung
11	chr4:8441800-8444600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:8441800-8444600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:8442800-8443800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr4:8442800-8443800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr4:8442800-8443800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr4:8442800-8443800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:8442800-8443800	Flanking Active TSS	Liver	Liver
18	chr4:8442800-8443800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr4:8442800-8444200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr4:8442800-8444200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr4:8442800-8444200	Flanking Active TSS	Colonic Mucosa	Colon
22	chr4:8442800-8444400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr4:8442800-8444400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr4:8442800-8444600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr4:8442800-8444800	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr4:8443000-8443800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr4:8443000-8443800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr4:8443000-8443800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:8443000-8443800	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr4:8443000-8443800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr4:8443000-8443800	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr4:8443000-8444000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr4:8443000-8444000	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr4:8443000-8444000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:8443000-8444200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:8443000-8444200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr4:8443000-8444200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr4:8443000-8444400	Flanking Active TSS	Fetal Brain Female	brain
39	chr4:8443000-8444400	Flanking Active TSS	Osteobl	bone
40	chr4:8443000-8445000	Flanking Active TSS	Dnd41	blood
41	chr4:8443200-8443800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:8443200-8443800	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr4:8443200-8443800	Flanking Active TSS	Right Ventricle	heart
44	chr4:8443200-8444000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:8443200-8444000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr4:8443200-8444000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr4:8443200-8444000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr4:8443200-8444000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:8443200-8444000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr4:8443200-8444000	Flanking Active TSS	Fetal Stomach	stomach

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