Variant report

Variant	rs62287391
Chromosome Location	chr4:8472447-8472448
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	chr4:8472283-8472923	GM12892	blood:	n/a	n/a
2	POLR2A	chr4:8472441-8472767	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:8472366-8472798	GM12891	blood:	n/a	n/a
4	POLR2A	chr4:8472362-8472875	GM12892	blood:	n/a	n/a
5	POLR2A	chr4:8472316-8472855	GM12891	blood:	n/a	n/a
6	POLR2A	chr4:8472374-8472728	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:8470406-8476371	K562	blood:	n/a	n/a
8	HMGN3	chr4:8472391-8472673	K562	blood:	n/a	n/a
9	POLR2A	chr4:8472337-8472871	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8472049..8473735-chr4:8474244..8476711,2	K562	blood:
2	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: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10002453	1.00[ASN][1000 genomes]
rs1106591	1.00[AFR][1000 genomes]
rs1357482	1.00[ASN][1000 genomes]
rs1568694	1.00[ASN][1000 genomes]
rs16842165	1.00[ASN][1000 genomes]
rs16842352	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17201848	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17202499	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17807929	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17807994	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs28551127	1.00[ASN][1000 genomes]
rs28627156	1.00[ASN][1000 genomes]
rs28647682	1.00[ASN][1000 genomes]
rs58141973	1.00[ASN][1000 genomes]
rs58250358	1.00[ASN][1000 genomes]
rs59065368	1.00[ASN][1000 genomes]
rs61738667	1.00[ASN][1000 genomes]
rs61739067	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62286047	1.00[AFR][1000 genomes]
rs62286049	1.00[AFR][1000 genomes]
rs62286050	1.00[AFR][1000 genomes]
rs62286052	1.00[AFR][1000 genomes]
rs62286053	1.00[AFR][1000 genomes]
rs62286054	1.00[AFR][1000 genomes]
rs62286055	1.00[AFR][1000 genomes]
rs62286056	1.00[AFR][1000 genomes]
rs62286058	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62286059	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62287360	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62287361	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62287362	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62287382	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62287383	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62287384	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62287385	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62287387	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62287390	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62287392	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62287393	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62287394	0.84[EUR][1000 genomes]
rs62287395	1.00[AFR][1000 genomes]
rs62287396	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62287397	1.00[AFR][1000 genomes]
rs62287399	1.00[AFR][1000 genomes]
rs62287401	1.00[AFR][1000 genomes]
rs62287402	1.00[AFR][1000 genomes]
rs62287405	1.00[AFR][1000 genomes]
rs62287433	1.00[AFR][1000 genomes]
rs62287434	1.00[AFR][1000 genomes]
rs62287435	1.00[AFR][1000 genomes]
rs62287436	1.00[AFR][1000 genomes]
rs6814163	1.00[ASN][1000 genomes]
rs6815431	1.00[ASN][1000 genomes]
rs6826283	1.00[ASN][1000 genomes]
rs6826302	1.00[ASN][1000 genomes]
rs6843048	1.00[ASN][1000 genomes]
rs6853292	1.00[ASN][1000 genomes]
rs6854153	1.00[ASN][1000 genomes]
rs6855488	1.00[ASN][1000 genomes]
rs954272	1.00[ASN][1000 genomes]
rs9995201	1.00[ASN][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:122 , 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	chr4:8447600-8473400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr4:8447800-8472800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:8451200-8473600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:8459400-8474000	Strong transcription	Fetal Intestine Small	intestine
15	chr4:8459800-8478800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:8462400-8472800	Strong transcription	Liver	Liver
17	chr4:8463400-8473800	Weak transcription	Fetal Kidney	kidney
18	chr4:8463800-8478800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:8464600-8473200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:8464600-8474000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:8464800-8473400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:8464800-8473600	Strong transcription	Brain Angular Gyrus	brain
23	chr4:8465200-8472800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:8465200-8472800	Strong transcription	Aorta	Aorta
25	chr4:8465200-8473600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:8465200-8474000	Strong transcription	Lung	lung
27	chr4:8465200-8482200	Strong transcription	Brain Germinal Matrix	brain
28	chr4:8465400-8473000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:8465400-8473400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:8465400-8473400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:8465400-8473400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:8465400-8473400	Strong transcription	Esophagus	oesophagus
33	chr4:8465400-8473800	Strong transcription	Fetal Intestine Large	intestine
34	chr4:8465400-8473800	Strong transcription	Pancreas	Pancrea
35	chr4:8465400-8473800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr4:8465400-8474200	Strong transcription	Gastric	stomach
37	chr4:8465400-8474200	Strong transcription	Spleen	Spleen
38	chr4:8465400-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:8465600-8472800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr4:8465600-8473400	Strong transcription	Brain Anterior Caudate	brain
41	chr4:8465800-8474000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:8465800-8474200	Strong transcription	Thymus	Thymus
43	chr4:8466600-8474200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:8466600-8474200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:8466800-8473400	Strong transcription	NHLF	lung
46	chr4:8466800-8473600	Strong transcription	Right Ventricle	heart
47	chr4:8467000-8473400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:8467600-8473800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:8467600-8475800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:8467600-8482200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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