Variant report

Variant	rs62286059
Chromosome Location	chr4:8439292-8439293
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:8439117-8439475	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr4:8439191-8439292	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr4:8439200-8439350	HCM	heart:	n/a	n/a
4	POLR2A	chr4:8439249-8439516	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr4:8438879-8439634	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr4:8439099-8439308	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr4:8439180-8439330	HPF	lung:	n/a	n/a
8	CTCF	chr4:8439160-8439310	HMEC	breast:	n/a	n/a
9	POLR2A	chr4:8439125-8439381	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr4:8439240-8439608	K562	blood:	n/a	n/a
11	CTCF	chr4:8439200-8439350	HCPEpiC	choroid plexus:	n/a	n/a
12	GATA3	chr4:8439122-8439668	T-47D	breast:	n/a	n/a
13	YY1	chr4:8439011-8439350	H1-hESC	embryonic stem cell:	n/a	chr4:8439186-8439200
14	CTCF	chr4:8439260-8439410	HVMF	connective:	n/a	n/a
15	POLR2A	chr4:8439275-8439427	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr4:8439240-8439390	HVMF	connective:	n/a	n/a
17	CTCF	chr4:8439086-8439366	K562	blood:	n/a	n/a
18	POLR2A	chr4:8438776-8439395	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr4:8439180-8439330	HMF	breast:	n/a	n/a
20	CTCF	chr4:8439160-8439310	SAEC	small airway:	n/a	n/a
21	HCFC1	chr4:8439213-8439351	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:8439008..8440667-chr4:8441503..8443852,2	K562	blood:
2	chr4:8429518..8431924-chr4:8437588..8440150,2	MCF-7	breast:
3	chr4:8439123..8440667-chr4:8441503..8443912,2	K562	blood:
4	chr4:8429704..8431761-chr4:8439023..8440743,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRMT44	TF binding region
ENSG00000087008	Chromatin interaction
ENSG00000155275	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]
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]
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:122 , 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	chr4:8431000-8440600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:8431000-8441000	Weak transcription	A549	lung
6	chr4:8431000-8441200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:8431000-8441600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:8433800-8442000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:8435600-8441200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:8437400-8439400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:8437600-8439400	Enhancers	Brain Hippocampus Middle	brain
12	chr4:8437800-8439600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr4:8437800-8440200	Enhancers	Thymus	Thymus
14	chr4:8437800-8440600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:8437800-8441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:8437800-8441200	Enhancers	Liver	Liver
17	chr4:8437800-8441400	Weak transcription	HSMM	muscle
18	chr4:8438000-8439400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr4:8438000-8439600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr4:8438000-8439600	Weak transcription	HSMMtube	muscle
21	chr4:8438000-8440800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:8438000-8441000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:8438000-8441400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr4:8438000-8441400	Weak transcription	NHDF-Ad	bronchial
25	chr4:8438000-8441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:8438200-8439400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:8438200-8439600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr4:8438200-8439600	Enhancers	Dnd41	blood
29	chr4:8438200-8439800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:8438200-8439800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:8438200-8440800	Weak transcription	Osteobl	bone
32	chr4:8438200-8441200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:8438200-8441200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:8438200-8441200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr4:8438200-8441400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:8438200-8441400	Weak transcription	Fetal Heart	heart
37	chr4:8438200-8441600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:8438200-8441600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:8438200-8441800	Weak transcription	Gastric	stomach
40	chr4:8438200-8442000	Weak transcription	Spleen	Spleen
41	chr4:8438400-8439800	Enhancers	GM12878-XiMat	blood
42	chr4:8438400-8440600	Weak transcription	Primary T cells from cord blood	blood
43	chr4:8438400-8440800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:8438400-8440800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:8438400-8441000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr4:8438400-8441200	Weak transcription	Primary B cells from cord blood	blood
47	chr4:8438400-8442000	Weak transcription	Small Intestine	intestine
48	chr4:8438800-8439600	Enhancers	Pancreas	Pancrea
49	chr4:8438800-8439800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:8438800-8440000	Enhancers	Placenta Amnion	Placenta Amnion

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