Variant report

Variant	rs62294125
Chromosome Location	chr4:775498-775499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:679737..681440-chr4:774148..776582,2	K562	blood:
2	chr4:735724..738302-chr4:774438..777111,2	MCF-7	breast:
3	chr4:774894..778846-chr4:965454..968160,4	MCF-7	breast:
4	chr4:773572..776391-chr4:979959..982266,2	MCF-7	breast:
5	chr4:680186..682717-chr4:773971..775707,2	MCF-7	breast:
6	chr4:671080..676330-chr4:771868..776883,7	K562	blood:
7	chr4:773678..778564-chr4:818343..821273,5	K562	blood:
8	chr4:735917..738355-chr4:773628..776647,3	MCF-7	breast:
9	chr4:774335..777276-chr4:923482..926205,2	K562	blood:
10	chr4:775177..775712-chr8:20054759..20055368,2	NB4	blood:
11	chr4:697549..703820-chr4:770860..775722,9	K562	blood:
12	chr17:73127683..73128286-chr4:775101..775698,2	Hela-S3	cervix:
13	chr4:773038..776439-chr4:923639..926176,4	MCF-7	breast:
14	chr4:774443..776550-chr4:1003219..1006058,2	MCF-7	breast:
15	chr4:774284..777559-chr4:817781..820963,6	MCF-7	breast:
16	chr4:758084..763800-chr4:770671..778725,12	MCF-7	breast:
17	chr19:30155987..30156547-chr4:775222..776214,2	NB4	blood:
18	chr4:775138..775736-chr9:115095469..115096084,2	NB4	blood:
19	chr4:774518..776312-chr4:2935741..2938166,2	MCF-7	breast:
20	chr4:774211..776951-chr4:981590..984228,3	MCF-7	breast:
21	chr4:666044..670200-chr4:772961..777371,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215375	Chromatin interaction
ENSG00000127419	Chromatin interaction
ENSG00000166289	Chromatin interaction
ENSG00000249673	Chromatin interaction
ENSG00000145214	Chromatin interaction
ENSG00000127415	Chromatin interaction
ENSG00000168993	Chromatin interaction
ENSG00000147416	Chromatin interaction
ENSG00000185619	Chromatin interaction
ENSG00000169026	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000169020	Chromatin interaction
ENSG00000233799	Chromatin interaction
ENSG00000127418	Chromatin interaction
ENSG00000178950	Chromatin interaction
ENSG00000125458	Chromatin interaction
ENSG00000119314	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1026741	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2242235	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3775148	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57297500	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58212655	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62294061	0.86[EUR][1000 genomes]
rs62294063	0.86[EUR][1000 genomes]
rs62294067	0.86[EUR][1000 genomes]
rs62294074	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62294076	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62294077	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62294078	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62294079	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62294081	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62294083	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62294121	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62294124	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62294129	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62294130	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73058469	0.86[EUR][1000 genomes]
rs73058482	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73058497	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73058499	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73060334	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73060336	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
5	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv878254	chr4:708932-899143	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv878255	chr4:708932-1052488	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
13	nsv878257	chr4:712222-852313	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv878258	chr4:712222-1058358	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
15	nsv878259	chr4:713920-852313	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv878260	chr4:713920-1052488	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv818207	chr4:753944-821490	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv878261	chr4:756686-1047794	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
19	nsv1007928	chr4:757263-813885	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	nsv520136	chr4:759709-780883	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
21	nsv1003219	chr4:769894-1105464	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
22	nsv515844	chr4:771587-780883	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	nsv526780	chr4:771587-786401	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv521402	chr4:771587-793763	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv878262	chr4:771587-865227	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
26	nsv878263	chr4:771587-1047794	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:773400-775600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr4:773800-775600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:774000-776200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:774000-776200	Active TSS	NHDF-Ad	bronchial
5	chr4:774200-776000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr4:774200-776000	Active TSS	Pancreas	Pancrea
7	chr4:774200-776200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:774200-776200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:774200-776200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:774200-776400	Active TSS	Gastric	stomach
11	chr4:774400-776000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr4:774400-776000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:774400-776200	Active TSS	Left Ventricle	heart
14	chr4:774400-776400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:774400-776400	Active TSS	Aorta	Aorta
16	chr4:774400-776400	Active TSS	Right Atrium	heart
17	chr4:774400-776400	Active TSS	Right Ventricle	heart
18	chr4:774400-776600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:774600-775600	Active TSS	Small Intestine	intestine
20	chr4:774600-776000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:774600-776000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:774600-776000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr4:774600-776000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:774600-776000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:774600-776000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:774600-776000	Enhancers	Fetal Brain Male	brain
27	chr4:774600-776000	Active TSS	Fetal Intestine Large	intestine
28	chr4:774600-776000	Active TSS	Fetal Lung	lung
29	chr4:774600-776000	Active TSS	Placenta Amnion	Placenta Amnion
30	chr4:774600-776000	Active TSS	HSMM	muscle
31	chr4:774600-776000	Active TSS	NH-A	brain
32	chr4:774600-776200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:774600-776200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:774600-776200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr4:774600-776200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:774600-776200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:774600-776200	Active TSS	Brain Anterior Caudate	brain
38	chr4:774600-776200	Active TSS	Brain Hippocampus Middle	brain
39	chr4:774600-776200	Active TSS	Fetal Kidney	kidney
40	chr4:774600-776200	Active TSS	Hela-S3	cervix
41	chr4:774600-776200	Active TSS	HSMMtube	muscle
42	chr4:774600-776400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr4:774600-776400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:774600-776600	Active TSS	Ovary	ovary
45	chr4:774800-775600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:774800-775600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:774800-776000	Active TSS	H1 Cell Line	embryonic stem cell
48	chr4:774800-776000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:774800-776000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:774800-776000	Active TSS	HUES48 Cell Line	embryonic stem cell

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