Variant report

Variant	rs9790488
Chromosome Location	chr4:129108100-129108101
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10434053	0.82[ASN][1000 genomes]
rs11737026	0.81[ASN][1000 genomes]
rs12498291	0.81[ASN][1000 genomes]
rs2172813	0.81[ASN][1000 genomes]
rs2204117	0.81[ASN][1000 genomes]
rs34503080	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35239105	0.80[ASN][1000 genomes]
rs4975239	0.82[ASN][1000 genomes]
rs55720227	0.82[ASN][1000 genomes]
rs55849105	0.82[ASN][1000 genomes]
rs55912890	0.82[ASN][1000 genomes]
rs62336165	0.82[ASN][1000 genomes]
rs62336168	0.82[ASN][1000 genomes]
rs6534669	0.82[AMR][1000 genomes]
rs6534670	0.81[ASN][1000 genomes]
rs6816751	0.82[ASN][1000 genomes]
rs6849865	0.81[ASN][1000 genomes]
rs6850479	0.81[ASN][1000 genomes]
rs6856312	0.81[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	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	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
6	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
7	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129077400-129112600	Weak transcription	Left Ventricle	heart
2	chr4:129077400-129122000	Weak transcription	Aorta	Aorta
3	chr4:129077600-129120600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:129083600-129112600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:129084800-129112400	Weak transcription	NHDF-Ad	bronchial
6	chr4:129092600-129122000	Weak transcription	Esophagus	oesophagus
7	chr4:129094600-129122200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:129094600-129131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:129095000-129108400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:129095000-129112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:129096600-129112600	Weak transcription	GM12878-XiMat	blood
12	chr4:129096600-129121200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:129097400-129112400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:129097600-129112600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:129098200-129119600	Weak transcription	Fetal Lung	lung
16	chr4:129098400-129124000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:129098400-129141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:129098600-129112400	Weak transcription	HSMM	muscle
19	chr4:129098800-129122400	Weak transcription	HUVEC	blood vessel
20	chr4:129099000-129112400	Weak transcription	K562	blood
21	chr4:129099000-129112400	Weak transcription	Osteobl	bone
22	chr4:129099000-129125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:129100200-129129400	Weak transcription	HepG2	liver
24	chr4:129102800-129121000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:129103600-129111600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:129103600-129129800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:129103800-129131600	Weak transcription	NHLF	lung
28	chr4:129104400-129112600	Weak transcription	HSMMtube	muscle
29	chr4:129104600-129112400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:129105400-129122000	Weak transcription	Right Ventricle	heart
31	chr4:129106200-129112400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:129106600-129112400	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:129106600-129124200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:129106600-129131000	Weak transcription	Colonic Mucosa	Colon
35	chr4:129106800-129108600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr4:129106800-129113000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:129107400-129108200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:129107600-129108400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:129107600-129108600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr4:129107600-129109200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr4:129107800-129108200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:129107800-129108400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:129107800-129108400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr4:129107800-129108400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr4:129107800-129108400	ZNF genes & repeats	Lung	lung
46	chr4:129107800-129108600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr4:129107800-129108600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:129107800-129108600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:129107800-129108600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:129107800-129108600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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