Variant report

Variant	rs62287390
Chromosome Location	chr4:8471702-8471703
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:8471566-8471829	K562	blood:	n/a	n/a
2	POLR2A	chr4:8471486-8472114	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr4:8471562-8472267	GM12892	blood:	n/a	n/a
4	POLR2A	chr4:8471633-8472166	A549	lung:	n/a	n/a
5	POLR2A	chr4:8471478-8472179	GM12891	blood:	n/a	n/a
6	POLR2A	chr4:8471236-8471870	GM12891	blood:	n/a	n/a
7	POLR2A	chr4:8471472-8471832	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:8471536-8472328	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:8471024-8471970	GM12892	blood:	n/a	n/a
10	POLR2A	chr4:8471062-8472237	GM12892	blood:	n/a	n/a
11	POLR2A	chr4:8470406-8476371	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8451706..8454826-chr4:8468396..8471846,3	K562	blood:
2	chr4:8470834..8472351-chr4:8587366..8589099,2	MCF-7	breast:
3	chr4:8469952..8472230-chr4:8539162..8541122,2	MCF-7	breast:
4	chr4:8471024..8473735-chr4:8474244..8476611,2	K562	blood:

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

Extended variants
information (count: 72 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1060617	0.87[EUR][1000 genomes]
rs1106591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13434465	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16842352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17194220	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17201848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17202499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17203215	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17203243	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17806817	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17806883	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17807929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17807994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28507650	0.87[EUR][1000 genomes]
rs28664136	0.87[EUR][1000 genomes]
rs61739067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62286002	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286003	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286005	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286035	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286036	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286037	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286038	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286040	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286041	0.87[EUR][1000 genomes]
rs62286042	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286043	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286044	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62286059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287391	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62287392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287406	0.93[EUR][1000 genomes]
rs62287433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287435	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287436	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287439	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287440	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287441	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7686109	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs940132	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	nsv964737	chr4:8467874-8473530	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8446400-8473800	Strong transcription	Fetal Stomach	stomach
2	chr4:8446600-8473400	Strong transcription	Dnd41	blood
3	chr4:8446600-8474000	Strong transcription	Fetal Muscle Leg	muscle
4	chr4:8447000-8474400	Strong transcription	Fetal Brain Female	brain
5	chr4:8447000-8475200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:8447000-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:8447200-8473000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:8447200-8480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:8447400-8474000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
11	chr4:8447600-8472200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:8447600-8473400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr4:8447800-8472800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:8451200-8473600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:8458200-8472000	Weak transcription	Fetal Heart	heart
16	chr4:8459400-8474000	Strong transcription	Fetal Intestine Small	intestine
17	chr4:8459800-8478800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:8462400-8472800	Strong transcription	Liver	Liver
19	chr4:8463400-8473800	Weak transcription	Fetal Kidney	kidney
20	chr4:8463800-8478800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:8464600-8473200	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:8464600-8474000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:8464800-8472000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr4:8464800-8472000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:8464800-8473400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:8464800-8473600	Strong transcription	Brain Angular Gyrus	brain
27	chr4:8465200-8471800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr4:8465200-8472200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:8465200-8472200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:8465200-8472200	Strong transcription	Brain Cingulate Gyrus	brain
31	chr4:8465200-8472200	Strong transcription	Brain Hippocampus Middle	brain
32	chr4:8465200-8472200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:8465200-8472200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:8465200-8472200	Strong transcription	Osteobl	bone
35	chr4:8465200-8472800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:8465200-8472800	Strong transcription	Aorta	Aorta
37	chr4:8465200-8473600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:8465200-8474000	Strong transcription	Lung	lung
39	chr4:8465200-8482200	Strong transcription	Brain Germinal Matrix	brain
40	chr4:8465400-8471800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:8465400-8472000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:8465400-8472000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr4:8465400-8473000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:8465400-8473400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:8465400-8473400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:8465400-8473400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:8465400-8473400	Strong transcription	Esophagus	oesophagus
48	chr4:8465400-8473800	Strong transcription	Fetal Intestine Large	intestine
49	chr4:8465400-8473800	Strong transcription	Pancreas	Pancrea
50	chr4:8465400-8473800	Strong transcription	Stomach Smooth Muscle	stomach

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