Variant report

Variant	rs13143450
Chromosome Location	chr4:20273348-20273349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20271116..20273425-chr4:20275227..20278137,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1323068	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2196476	0.91[CEU][hapmap];0.98[EUR][1000 genomes]
rs2208946	0.98[EUR][1000 genomes]
rs2322459	0.80[EUR][1000 genomes]
rs2322460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2874800	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4697156	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6447951	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6447952	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7680377	0.82[CEU][hapmap]
rs7680945	0.84[CHB][hapmap]
rs7692329	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3382679	chr4:20272254-20274202	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 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	chr4:20264800-20273800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:20268600-20273600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:20268600-20280000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:20268800-20283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:20269000-20273400	Weak transcription	NHEK	skin
12	chr4:20269200-20284600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:20269400-20273800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:20269800-20274000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:20271000-20275600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:20271600-20273400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:20271600-20273400	Weak transcription	Fetal Lung	lung
18	chr4:20271800-20273600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:20272200-20273400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:20272200-20274600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:20272200-20275000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:20272800-20273400	Weak transcription	NHDF-Ad	bronchial
23	chr4:20272800-20276000	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:20273000-20275200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:20273200-20274200	Enhancers	NHLF	lung
26	chr4:20273200-20274600	Enhancers	Osteobl	bone

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