Variant report

Variant	rs2208946
Chromosome Location	chr4:20270861-20270862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13143450	0.98[EUR][1000 genomes]
rs1323068	0.80[EUR][1000 genomes]
rs2196476	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322459	0.84[AMR][1000 genomes]
rs2322460	0.95[EUR][1000 genomes]
rs2874800	0.81[EUR][1000 genomes]
rs4697156	0.81[EUR][1000 genomes]
rs6447951	0.80[EUR][1000 genomes]
rs6447952	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7692329	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878736	chr4:20233035-20279858	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878737	chr4:20233035-20282334	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv878738	chr4:20255306-20300192	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv878739	chr4:20255306-20307922	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv461287	chr4:20261786-20292239	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv593791	chr4:20261786-20292239	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20258000-20275400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
3	chr4:20258400-20274000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:20260000-20273600	Weak transcription	Fetal Kidney	kidney
5	chr4:20260000-20273800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:20260000-20276200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:20261800-20273200	Weak transcription	NHLF	lung
8	chr4:20263000-20272000	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:20264800-20273800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:20268600-20271200	Weak transcription	Aorta	Aorta
11	chr4:20268600-20271400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:20268600-20273600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:20268600-20280000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:20268800-20272200	Weak transcription	Brain Anterior Caudate	brain
15	chr4:20268800-20283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:20269000-20273400	Weak transcription	NHEK	skin
17	chr4:20269200-20284600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:20269400-20273800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:20269800-20274000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:20270000-20271600	Genic enhancers	NHDF-Ad	bronchial
21	chr4:20270000-20272200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:20270200-20271200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:20270400-20271000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:20270400-20271400	Strong transcription	Fetal Lung	lung
25	chr4:20270400-20273000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:20270600-20271400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:20270600-20271600	Strong transcription	Osteobl	bone

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