Variant report

Variant	rs6839258
Chromosome Location	chr4:53791037-53791038
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53784136..53787451-chr4:53789900..53792268,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17082178	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17082197	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs17082298	1.00[MEX][hapmap]
rs301115	1.00[MEX][hapmap]
rs6554059	0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6815477	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844544	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844545	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6855135	1.00[AMR][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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 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	chr4:53729200-53807800	Weak transcription	Esophagus	oesophagus
2	chr4:53734600-53822400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:53768800-53815600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:53769000-53804400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:53769600-53792000	Weak transcription	Lung	lung
6	chr4:53771000-53791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:53774600-53798400	Weak transcription	HSMMtube	muscle
8	chr4:53781600-53791800	Weak transcription	Osteobl	bone
9	chr4:53782200-53791600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:53782200-53792400	Weak transcription	Pancreas	Pancrea
11	chr4:53782200-53799000	Weak transcription	NHLF	lung
12	chr4:53782400-53791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:53782400-53791800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:53782400-53792000	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:53782400-53794600	Weak transcription	Fetal Stomach	stomach
16	chr4:53782400-53797200	Weak transcription	Liver	Liver
17	chr4:53783000-53791800	Weak transcription	Stomach Mucosa	stomach
18	chr4:53784400-53791600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:53784400-53791600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:53785200-53791800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:53785600-53798400	Weak transcription	NHDF-Ad	bronchial
22	chr4:53786600-53861400	Weak transcription	Primary B cells from cord blood	blood
23	chr4:53786800-53799000	Weak transcription	Primary T cells from cord blood	blood
24	chr4:53788000-53791600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:53788200-53791600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:53789800-53793000	Enhancers	Fetal Intestine Small	intestine
27	chr4:53790200-53791600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:53790200-53799400	Weak transcription	Left Ventricle	heart
29	chr4:53790600-53793000	Enhancers	Fetal Intestine Large	intestine
30	chr4:53791000-53793400	Enhancers	HUES64 Cell Line	embryonic stem cell

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