Variant report

Variant	rs57786719
Chromosome Location	chr10:49396389-49396390
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49391698..49393919-chr10:49395498..49398261,2	K562	blood:
2	chr10:49396249..49398668-chr10:49400189..49401830,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11101258	0.97[ASN][1000 genomes]
rs11101259	0.91[ASN][1000 genomes]
rs11101262	0.97[ASN][1000 genomes]
rs11101263	0.91[ASN][1000 genomes]
rs11594394	0.97[ASN][1000 genomes]
rs12249222	0.91[ASN][1000 genomes]
rs1367023	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1367024	0.97[ASN][1000 genomes]
rs17010513	0.97[ASN][1000 genomes]
rs17697168	0.97[ASN][1000 genomes]
rs17697186	0.97[ASN][1000 genomes]
rs17697300	0.97[ASN][1000 genomes]
rs17769912	0.97[ASN][1000 genomes]
rs17769978	0.97[ASN][1000 genomes]
rs17769990	0.97[ASN][1000 genomes]
rs35888745	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3906617	0.97[ASN][1000 genomes]
rs4491171	0.97[ASN][1000 genomes]
rs4838578	0.97[ASN][1000 genomes]
rs56036047	0.97[ASN][1000 genomes]
rs61840036	0.97[ASN][1000 genomes]
rs61840037	0.97[ASN][1000 genomes]
rs61840038	0.97[ASN][1000 genomes]
rs7897122	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7906257	0.91[ASN][1000 genomes]
rs7907898	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895349	chr10:49002272-49402084	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1037726	chr10:49002272-49404608	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv497860	chr10:49002272-49431037	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv895362	chr10:49059803-49402084	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv895364	chr10:49246290-49402084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv831864	chr10:49299274-49450299	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv895367	chr10:49333754-49491047	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49393800-49400000	Weak transcription	Fetal Brain Male	brain
2	chr10:49394800-49398000	Enhancers	Fetal Intestine Large	intestine
3	chr10:49395200-49397000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr10:49395200-49398000	Enhancers	Fetal Intestine Small	intestine
5	chr10:49395800-49396400	Enhancers	Fetal Lung	lung
6	chr10:49395800-49396600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:49395800-49396600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:49395800-49396600	Enhancers	Fetal Muscle Leg	muscle
9	chr10:49395800-49396600	Enhancers	Left Ventricle	heart
10	chr10:49395800-49397000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr10:49395800-49397000	Flanking Active TSS	HepG2	liver
12	chr10:49396000-49396600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:49396000-49396800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:49396000-49397000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:49396000-49420800	Weak transcription	Brain Anterior Caudate	brain
16	chr10:49396200-49396600	Enhancers	Brain Hippocampus Middle	brain
17	chr10:49396200-49397000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr10:49396200-49397400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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