Variant report

Variant	rs10519904
Chromosome Location	chr4:148510725-148510726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148081448..148083313-chr4:148510559..148512058,10	K562	blood:
2	chr4:148509882..148511690-chr4:148787031..148789794,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56026490	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58439954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61170156	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62342648	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62342651	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148500000-148510800	Weak transcription	Ovary	ovary
2	chr4:148503600-148510800	Weak transcription	HSMM	muscle
3	chr4:148503600-148510800	Weak transcription	Osteobl	bone
4	chr4:148503800-148510800	Weak transcription	HSMMtube	muscle
5	chr4:148506600-148510800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:148507200-148511400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:148507400-148510800	Weak transcription	Fetal Stomach	stomach
8	chr4:148507600-148510800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:148508600-148510800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:148508600-148510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:148508800-148510800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:148508800-148510800	Weak transcription	NHLF	lung
13	chr4:148509400-148511000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:148509400-148511400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:148509400-148512400	Enhancers	Hela-S3	cervix
16	chr4:148510200-148512400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:148510200-148520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:148510400-148510800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr4:148510400-148511000	Enhancers	Brain Substantia Nigra	brain
20	chr4:148510400-148511200	Enhancers	Brain Angular Gyrus	brain
21	chr4:148510400-148511200	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:148510400-148511200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:148510400-148511400	Enhancers	Brain Anterior Caudate	brain
24	chr4:148510400-148512000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:148510600-148511200	Enhancers	Brain Hippocampus Middle	brain
26	chr4:148510600-148511200	Enhancers	Fetal Heart	heart
27	chr4:148510600-148511200	Enhancers	Fetal Lung	lung
28	chr4:148510600-148511200	Enhancers	NHDF-Ad	bronchial
29	chr4:148510600-148511400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:148510600-148512400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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