Variant report

Variant	rs55964669
Chromosome Location	chr4:129085174-129085175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55996447	1.00[AMR][1000 genomes]
rs56088257	0.81[AFR][1000 genomes]
rs57654585	1.00[AMR][1000 genomes]
rs58676618	1.00[AMR][1000 genomes]
rs73848735	0.82[AFR][1000 genomes]
rs73848751	1.00[AMR][1000 genomes]
rs73848781	1.00[AMR][1000 genomes]
rs73848783	1.00[AMR][1000 genomes]
rs73848799	1.00[AMR][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	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	nsv1019555	chr4:128901614-129088903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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:44 , 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	chr4:129077400-129088800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:129077400-129112600	Weak transcription	Left Ventricle	heart
4	chr4:129077400-129122000	Weak transcription	Aorta	Aorta
5	chr4:129077600-129094200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:129077600-129103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:129077600-129120600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:129078000-129085800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:129078000-129103400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:129078000-129107800	Weak transcription	Fetal Intestine Small	intestine
11	chr4:129078000-129107800	Weak transcription	Fetal Stomach	stomach
12	chr4:129078000-129108000	Weak transcription	Gastric	stomach
13	chr4:129079400-129089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:129082000-129085200	Enhancers	HepG2	liver
15	chr4:129082000-129085600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:129082000-129085600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:129082200-129085800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:129082800-129098400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:129083200-129085200	Enhancers	HSMM	muscle
20	chr4:129083400-129085200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:129083400-129085200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:129083400-129085200	Enhancers	HSMMtube	muscle
23	chr4:129083400-129085200	Enhancers	NH-A	brain
24	chr4:129083600-129085200	Flanking Active TSS	HUVEC	blood vessel
25	chr4:129083600-129112600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:129083800-129102400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:129084000-129085200	Enhancers	NHEK	skin
28	chr4:129084200-129085200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:129084200-129085200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:129084400-129085200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:129084400-129085200	Enhancers	HMEC	breast
32	chr4:129084600-129085200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:129084800-129085200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:129084800-129085600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:129084800-129099400	Weak transcription	Liver	Liver
36	chr4:129084800-129104000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:129084800-129107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:129084800-129112400	Weak transcription	NHDF-Ad	bronchial
39	chr4:129085000-129085200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr4:129085000-129085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:129085000-129085200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:129085000-129085200	Enhancers	Placenta	Placenta
43	chr4:129085000-129085200	Enhancers	A549	lung
44	chr4:129085000-129085200	Enhancers	NHLF	lung

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