Variant report

Variant	rs17021280
Chromosome Location	chr4:147158147-147158148
allele	C/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	GATA2	chr4:147157729-147159042	SH-SY5Y	brain:	n/a	n/a
2	MXI1	chr4:147157862-147159156	SK-N-SH	brain:	n/a	n/a
3	EP300	chr4:147157749-147159179	SK-N-SH	brain:	n/a	chr4:147158764-147158778

Variant related genes	Relation type
ENSG00000251010	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1352067	0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs1352069	1.00[JPT][hapmap]
rs1550081	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55782738	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55853628	1.00[EUR][1000 genomes]
rs55930229	1.00[EUR][1000 genomes]
rs56099921	1.00[EUR][1000 genomes]
rs57083284	1.00[EUR][1000 genomes]
rs58863965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59148890	1.00[EUR][1000 genomes]
rs59361076	1.00[EUR][1000 genomes]
rs59424517	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61466735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950636	1.00[EUR][1000 genomes]
rs73852859	1.00[EUR][1000 genomes]
rs73855113	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855116	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855118	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855119	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855120	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855121	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73855124	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73855125	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73855129	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73855141	1.00[EUR][1000 genomes]
rs73855509	1.00[EUR][1000 genomes]
rs73855522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73855523	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147156200-147160600	Enhancers	Adipose Nuclei	Adipose
2	chr4:147156800-147158200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr4:147156800-147158200	Enhancers	Spleen	Spleen
4	chr4:147156800-147158600	Enhancers	Fetal Muscle Leg	muscle
5	chr4:147157000-147159400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:147157000-147159400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:147157200-147163400	Weak transcription	Right Ventricle	heart
8	chr4:147157600-147162200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:147157600-147162200	Weak transcription	NHLF	lung
10	chr4:147157600-147162600	Weak transcription	Fetal Stomach	stomach
11	chr4:147157800-147161200	Weak transcription	Left Ventricle	heart
12	chr4:147157800-147162600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:147157800-147162800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr4:147158000-147160200	Weak transcription	Right Atrium	heart
15	chr4:147158000-147162200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:147158000-147162200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:147158000-147164400	Weak transcription	Lung	lung

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