Variant report

Variant	rs4487359
Chromosome Location	chr4:129091925-129091926
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	chr4:129080384..129082582-chr4:129090226..129091968,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11932481	0.90[YRI][hapmap]
rs11935232	0.97[AFR][1000 genomes]
rs11935267	0.89[YRI][hapmap]
rs11939629	0.82[AFR][1000 genomes]
rs11942042	0.89[YRI][hapmap]
rs11947194	0.88[YRI][hapmap]
rs17012926	0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012942	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs17012954	0.90[YRI][hapmap];0.88[AFR][1000 genomes]
rs2126113	0.82[AFR][1000 genomes]
rs57297662	0.85[AFR][1000 genomes]
rs59664646	0.82[AFR][1000 genomes]
rs60096181	0.82[AFR][1000 genomes]
rs60995278	0.82[AFR][1000 genomes]
rs61373286	0.88[AFR][1000 genomes]
rs61662075	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv879929	chr4:129029653-129142079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129067000-129107600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:129077400-129112600	Weak transcription	Left Ventricle	heart
3	chr4:129077400-129122000	Weak transcription	Aorta	Aorta
4	chr4:129077600-129094200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:129077600-129103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:129077600-129120600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:129078000-129103400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:129078000-129107800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:129078000-129107800	Weak transcription	Fetal Stomach	stomach
10	chr4:129078000-129108000	Weak transcription	Gastric	stomach
11	chr4:129082800-129098400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:129083600-129112600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:129083800-129102400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:129084800-129099400	Weak transcription	Liver	Liver
15	chr4:129084800-129104000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:129084800-129107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:129084800-129112400	Weak transcription	NHDF-Ad	bronchial
18	chr4:129085200-129098000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:129085200-129098000	Weak transcription	HSMM	muscle
20	chr4:129085800-129105400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:129089600-129102400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:129089600-129103400	Weak transcription	Fetal Intestine Large	intestine
23	chr4:129089800-129104000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:129090000-129104400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:129090600-129092200	Weak transcription	Esophagus	oesophagus
26	chr4:129091600-129104000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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