Variant report

Variant	rs4700258
Chromosome Location	chr5:57452183-57452184
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	POLR2A	chr5:57452103-57452651	H1-neurons	neurons:	n/a	n/a
2	ZNF263	chr5:57452080-57452508	HEK293-T-REx	kidney:	n/a	chr5:57452294-57452303
3	REST	chr5:57451984-57453226	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr5:57452023-57452534	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57451627..57453981-chr5:57754355..57756804,3	MCF-7	breast:

Variant related genes	Relation type
PGAM1P1	TF binding region
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10036219	0.90[AFR][1000 genomes]
rs10051411	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10054742	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10079220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28401535	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72753377	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753396	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033051	chr5:57380218-57471801	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57447200-57457000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:57449400-57452200	Weak transcription	A549	lung
3	chr5:57451000-57454000	Enhancers	Fetal Brain Male	brain
4	chr5:57451000-57454200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:57451400-57452600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:57451400-57453400	Enhancers	Brain Anterior Caudate	brain
7	chr5:57451400-57453600	Enhancers	NH-A	brain
8	chr5:57451400-57453800	Enhancers	HSMM	muscle
9	chr5:57451600-57452200	Weak transcription	Pancreas	Pancrea
10	chr5:57451600-57453400	Enhancers	Fetal Brain Female	brain
11	chr5:57451800-57452400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:57451800-57452400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:57451800-57453200	Enhancers	Brain Hippocampus Middle	brain
14	chr5:57451800-57454000	Enhancers	HSMMtube	muscle
15	chr5:57452000-57452400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:57452000-57452400	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr5:57452000-57452600	Active TSS	Brain Angular Gyrus	brain
18	chr5:57452000-57452800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:57452000-57453000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:57452000-57453200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:57452000-57453200	Enhancers	Fetal Muscle Leg	muscle
22	chr5:57452000-57453200	Enhancers	Gastric	stomach
23	chr5:57452000-57453200	Enhancers	Psoas Muscle	Psoas
24	chr5:57452000-57453200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:57452000-57453400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:57452000-57453400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:57452000-57453400	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr5:57452000-57453400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr5:57452000-57453400	Enhancers	NHDF-Ad	bronchial
30	chr5:57452000-57453400	Enhancers	Osteobl	bone
31	chr5:57452000-57453600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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