Variant report

Variant	rs62287360
Chromosome Location	chr4:8440653-8440654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:8440524-8443902	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:8440522-8440714	MCF-7	breast:	n/a	n/a
3	FOXA1	chr4:8440558-8440766	T-47D	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8440629-8440679	AG09319	gingival:	n/a
2	chr4:8440629-8440679	H1-hESC	embryonic stem cell:	embryo
3	chr4:8440629-8440679	HCPEpiC	choroid plexus:	n/a
4	chr4:8440629-8440679	HepG2	liver:	n/a
5	chr4:8440629-8440679	CMK	blood:	n/a
6	chr4:8440629-8440679	A549	lung:	n/a
7	chr4:8440629-8440679	SK-N-SH_RA	brain:	n/a
8	chr4:8440629-8440679	NHDF-neo	bronchial:	n/a
9	chr4:8440629-8440679	K562	blood:	n/a
10	chr4:8440629-8440679	T-47D	breast:	n/a
11	chr4:8440629-8440679	Hela-S3	cervix:	n/a
12	chr4:8440629-8440679	HUVEC	blood vessel:	n/a
13	chr4:8440629-8440679	PANC-1	pancreas:	n/a
14	chr4:8440629-8440679	HCM	heart:	n/a
15	chr4:8440629-8440679	HRPEpiC	eye:	n/a
16	chr4:8440629-8440679	HL-60	blood:	n/a
17	chr4:8440629-8440679	AG09309	skin:	n/a
18	chr4:8440629-8440679	SK-N-SH	brain:	n/a
19	chr4:8440629-8440679	U87	brain:	n/a
20	chr4:8440629-8440679	MCF10A-Er-Src	breast:	n/a
21	chr4:8440629-8440679	GM06990	blood:	n/a
22	chr4:8440629-8440679	RPTEC	kidney:	n/a
23	chr4:8440629-8440679	HCF	heart:	n/a
24	chr4:8440629-8440679	HCT-116	colon:	n/a
25	chr4:8440629-8440679	GM19239	blood:	n/a
26	chr4:8440629-8440679	HPAEpiC	pulmonary alveolar:	n/a
27	chr4:8440629-8440679	LNCaP	prostate:	n/a
28	chr4:8440629-8440679	SAEC	small airway:	n/a
29	chr4:8440629-8440679	AG04450	lung:	fetal
30	chr4:8440629-8440679	GM12892	blood:	n/a
31	chr4:8440629-8440679	IMR90	lung:	fetal
32	chr4:8440629-8440679	Jurkat	blood:	n/a
33	chr4:8440629-8440679	AG04449	skin:	fetal
34	chr4:8440629-8440679	GM12878	blood:	n/a
35	chr4:8440629-8440679	NH-A	brain:	n/a
36	chr4:8440629-8440679	ProgFib	skin:	n/a
37	chr4:8440629-8440679	Caco-2	colon:	n/a
38	chr4:8440629-8440679	SKMC	muscle:	n/a
39	chr4:8440629-8440679	Hepatocyte	liver:	n/a
40	chr4:8440629-8440679	AoSMC	blood vessel:	n/a
41	chr4:8440629-8440679	HMEC	breast:	n/a
42	chr4:8440629-8440679	ovcar-3	ovarian:	n/a
43	chr4:8440629-8440679	HRCEpiC	kidney:	n/a
44	chr4:8440629-8440679	HIPEpiC	eye:	n/a
45	chr4:8440629-8440679	HEEpiC	esophagus:	n/a
46	chr4:8440629-8440679	HAEpiC	amniotic membrane:	n/a
47	chr4:8440629-8440679	HRE	kidney:	n/a
48	chr4:8440629-8440679	NB4	blood:	n/a
49	chr4:8440629-8440679	HNPCEpiC	eye:	n/a
50	chr4:8440629-8440679	ECC-1	luminal epithelium:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8439008..8440667-chr4:8441503..8443852,2	K562	blood:
2	chr4:8439123..8440667-chr4:8441503..8443912,2	K562	blood:
3	chr4:8429704..8431761-chr4:8439023..8440743,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL19-2	chr4:8440519-8441028	NONHSAT095098

No data

Variant related genes	Relation type
TRMT44	TF binding region
TRMT44	CpG island
ENSG00000155275	Chromatin interaction
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 75 )
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]
rs62287361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287362	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:8 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8430800-8441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:8430800-8441400	Weak transcription	Fetal Brain Female	brain
3	chr4:8430800-8441800	Weak transcription	Aorta	Aorta
4	chr4:8431000-8441000	Weak transcription	A549	lung
5	chr4:8431000-8441200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:8431000-8441600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:8433800-8442000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:8435600-8441200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:8437800-8441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:8437800-8441200	Enhancers	Liver	Liver
11	chr4:8437800-8441400	Weak transcription	HSMM	muscle
12	chr4:8438000-8440800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:8438000-8441000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:8438000-8441400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:8438000-8441400	Weak transcription	NHDF-Ad	bronchial
16	chr4:8438000-8441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:8438200-8440800	Weak transcription	Osteobl	bone
18	chr4:8438200-8441200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr4:8438200-8441200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:8438200-8441200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr4:8438200-8441400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:8438200-8441400	Weak transcription	Fetal Heart	heart
23	chr4:8438200-8441600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:8438200-8441600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:8438200-8441800	Weak transcription	Gastric	stomach
26	chr4:8438200-8442000	Weak transcription	Spleen	Spleen
27	chr4:8438400-8440800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:8438400-8440800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:8438400-8441000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:8438400-8441200	Weak transcription	Primary B cells from cord blood	blood
31	chr4:8438400-8442000	Weak transcription	Small Intestine	intestine
32	chr4:8439000-8441600	Enhancers	Brain Substantia Nigra	brain
33	chr4:8439000-8441800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:8439200-8441400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr4:8439200-8441400	Enhancers	Stomach Mucosa	stomach
36	chr4:8439400-8441200	Weak transcription	Brain Germinal Matrix	brain
37	chr4:8439400-8441400	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:8439400-8441400	Weak transcription	Fetal Brain Male	brain
39	chr4:8439400-8441600	Enhancers	Fetal Thymus	thymus
40	chr4:8439600-8440800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:8439600-8440800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:8439600-8441000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:8439600-8441000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:8439600-8441000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr4:8439600-8441000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:8439600-8441000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:8439600-8441200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:8439600-8441200	Enhancers	HMEC	breast
49	chr4:8439600-8441400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:8439600-8441400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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