Variant report

Variant	rs62286044
Chromosome Location	chr4:8412471-8412472
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8411216..8414170-chr4:8427431..8430219,2	MCF-7	breast:
2	chr4:8411333..8413116-chr4:8429011..8431079,2	MCF-7	breast:
3	chr4:8411540..8415599-chr4:8441026..8443351,3	K562	blood:
4	chr4:8243670..8244249-chr4:8412115..8412989,3	MCF-7	breast:
5	chr4:8404571..8406655-chr4:8410577..8413639,3	MCF-7	breast:
6	chr4:8268637..8269538-chr4:8412094..8412713,3	MCF-7	breast:
7	chr4:8252940..8255402-chr4:8411571..8414054,2	K562	blood:
8	chr4:8410214..8413644-chr4:8429714..8431536,3	K562	blood:
9	chr4:8243635..8244141-chr4:8412098..8412912,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000087008	Chromatin interaction
ENSG00000155275	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1060617	1.00[EUR][1000 genomes]
rs1106591	1.00[AMR][1000 genomes]
rs13434465	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16842352	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17194220	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17201848	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17202499	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17203215	0.91[AMR][1000 genomes]
rs17203243	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17806817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17806883	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17807929	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17807994	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28507650	1.00[EUR][1000 genomes]
rs28664136	1.00[EUR][1000 genomes]
rs61739067	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286003	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286036	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286037	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286041	1.00[EUR][1000 genomes]
rs62286042	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286047	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286049	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286050	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286052	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286053	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286054	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286055	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286056	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286058	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286059	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287360	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287361	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287362	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287382	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287383	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287384	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287385	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287387	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287390	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287392	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287393	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287394	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287395	1.00[AMR][1000 genomes]
rs62287396	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287397	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287399	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287401	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287402	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287405	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287406	0.80[EUR][1000 genomes]
rs62287433	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287434	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287435	0.91[AMR][1000 genomes]
rs62287436	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287439	0.91[AMR][1000 genomes]
rs62287440	0.91[AMR][1000 genomes]
rs62287441	0.91[AMR][1000 genomes]
rs7686109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs940132	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
5	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
6	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
7	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
8	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
9	nsv878610	chr4:8377058-8416976	ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv470014	chr4:8390646-8429817	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv593639	chr4:8394376-8424108	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8383800-8419000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:8384800-8418600	Strong transcription	Primary T cells from cord blood	blood
3	chr4:8396600-8419400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:8396800-8415600	Weak transcription	NH-A	brain
5	chr4:8397600-8420400	Weak transcription	NHDF-Ad	bronchial
6	chr4:8399600-8429400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:8403200-8419400	Strong transcription	Fetal Intestine Small	intestine
8	chr4:8403400-8414400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:8404600-8429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:8404800-8420600	Weak transcription	Psoas Muscle	Psoas
11	chr4:8405000-8415600	Weak transcription	Fetal Kidney	kidney
12	chr4:8405400-8414400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:8405400-8418400	Strong transcription	Brain Hippocampus Middle	brain
14	chr4:8405600-8412600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:8405600-8418600	Strong transcription	Liver	Liver
16	chr4:8405600-8418800	Strong transcription	Aorta	Aorta
17	chr4:8406600-8418800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:8407600-8415600	Weak transcription	GM12878-XiMat	blood
19	chr4:8407800-8415400	Weak transcription	Left Ventricle	heart
20	chr4:8407800-8415600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:8407800-8419200	Weak transcription	Fetal Thymus	thymus
22	chr4:8408000-8414000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:8408000-8415600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:8408200-8415800	Weak transcription	Osteobl	bone
25	chr4:8408800-8422400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:8409200-8412600	Strong transcription	Brain Cingulate Gyrus	brain
27	chr4:8409200-8418000	Strong transcription	Colon Smooth Muscle	Colon
28	chr4:8409400-8412800	Genic enhancers	Lung	lung
29	chr4:8409400-8418400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:8409600-8413400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr4:8409600-8415600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:8409800-8415600	Weak transcription	Primary B cells from cord blood	blood
33	chr4:8409800-8415600	Weak transcription	HepG2	liver
34	chr4:8409800-8415800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:8410000-8415400	Weak transcription	Dnd41	blood
36	chr4:8410400-8412800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
37	chr4:8410400-8413000	Genic enhancers	Fetal Muscle Leg	muscle
38	chr4:8410400-8413200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:8410400-8418600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:8410800-8412800	Enhancers	K562	blood
41	chr4:8411000-8412600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:8411000-8412800	Genic enhancers	Stomach Smooth Muscle	stomach
43	chr4:8411000-8413000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:8411000-8413200	Genic enhancers	Placenta	Placenta
45	chr4:8411000-8413400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr4:8411000-8413600	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr4:8411000-8419000	Strong transcription	Pancreas	Pancrea
48	chr4:8411200-8412600	Genic enhancers	Adipose Nuclei	Adipose
49	chr4:8411200-8412800	Genic enhancers	Esophagus	oesophagus
50	chr4:8411200-8412800	Genic enhancers	Ovary	ovary

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