Variant report

Variant	rs1908451
Chromosome Location	chr4:129105622-129105623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10000960	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10001048	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10002580	0.80[EUR][1000 genomes]
rs1001503	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10019554	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10019840	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10025430	0.90[EUR][1000 genomes]
rs10026123	0.90[EUR][1000 genomes]
rs10026899	0.89[EUR][1000 genomes]
rs10213259	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10434053	0.98[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10518529	0.86[EUR][1000 genomes]
rs10857129	0.81[EUR][1000 genomes]
rs11098947	0.82[EUR][1000 genomes]
rs11723915	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11727049	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11727305	0.90[EUR][1000 genomes]
rs11728245	0.86[EUR][1000 genomes]
rs11732074	0.86[EUR][1000 genomes]
rs11735810	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11941199	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12505717	0.80[EUR][1000 genomes]
rs12508837	0.80[EUR][1000 genomes]
rs12509092	0.81[EUR][1000 genomes]
rs12645577	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12648962	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13109815	0.87[EUR][1000 genomes]
rs13136665	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13137866	0.86[ASN][1000 genomes]
rs13138581	0.86[EUR][1000 genomes]
rs13139182	0.86[EUR][1000 genomes]
rs1545711	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16997982	0.81[EUR][1000 genomes]
rs1809796	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1809797	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1870687	0.85[EUR][1000 genomes]
rs1908450	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1971933	0.81[EUR][1000 genomes]
rs1975878	0.82[EUR][1000 genomes]
rs1993723	0.82[EUR][1000 genomes]
rs2056470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2061570	0.86[EUR][1000 genomes]
rs2061571	0.84[EUR][1000 genomes]
rs2061572	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2085843	0.82[EUR][1000 genomes]
rs2126112	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2172813	0.93[EUR][1000 genomes]
rs2306055	0.80[EUR][1000 genomes]
rs2391231	0.84[EUR][1000 genomes]
rs28625259	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs34021656	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34475529	0.81[EUR][1000 genomes]
rs34658734	0.86[EUR][1000 genomes]
rs34659062	0.80[ASN][1000 genomes]
rs34800130	0.84[EUR][1000 genomes]
rs34816181	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34823354	0.80[EUR][1000 genomes]
rs34834481	0.82[EUR][1000 genomes]
rs34848208	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35239105	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35619904	0.81[EUR][1000 genomes]
rs3733320	0.80[EUR][1000 genomes]
rs4383632	0.91[EUR][1000 genomes]
rs4385082	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4484314	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4493552	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4527494	0.80[EUR][1000 genomes]
rs4618332	0.90[EUR][1000 genomes]
rs4834231	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4834234	0.81[EUR][1000 genomes]
rs4975239	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs55720227	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs55849105	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs55912890	0.92[EUR][1000 genomes]
rs59944017	0.84[EUR][1000 genomes]
rs62335637	0.82[EUR][1000 genomes]
rs62336165	0.99[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62336168	0.93[EUR][1000 genomes]
rs6534664	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6534665	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6534666	0.80[EUR][1000 genomes]
rs6534668	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6534670	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6534672	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6534673	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6811718	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6815163	0.81[EUR][1000 genomes]
rs6815890	0.81[EUR][1000 genomes]
rs6816751	0.93[EUR][1000 genomes]
rs6818467	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6820831	0.80[EUR][1000 genomes]
rs6827422	0.80[EUR][1000 genomes]
rs6829891	0.92[EUR][1000 genomes]
rs6834263	0.81[EUR][1000 genomes]
rs6842281	0.84[EUR][1000 genomes]
rs6848998	0.82[EUR][1000 genomes]
rs6849546	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6850479	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6856312	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7667562	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7667689	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7671131	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7686130	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7693135	0.93[EUR][1000 genomes]
rs9760909	0.83[EUR][1000 genomes]
rs9760910	0.84[EUR][1000 genomes]
rs9993435	0.89[EUR][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:64 , 50 per page) page: 1 2

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	chr4:129077600-129120600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:129078000-129107800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:129078000-129107800	Weak transcription	Fetal Stomach	stomach
7	chr4:129078000-129108000	Weak transcription	Gastric	stomach
8	chr4:129083600-129112600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:129084800-129107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:129084800-129112400	Weak transcription	NHDF-Ad	bronchial
11	chr4:129092600-129107800	Weak transcription	Pancreas	Pancrea
12	chr4:129092600-129122000	Weak transcription	Esophagus	oesophagus
13	chr4:129093800-129107800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:129094400-129107200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:129094600-129107800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:129094600-129122200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:129094600-129131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:129094800-129107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:129095000-129108400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:129095000-129112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:129096200-129107800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:129096600-129107800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:129096600-129112600	Weak transcription	GM12878-XiMat	blood
24	chr4:129096600-129121200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:129096800-129108000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:129097000-129105800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:129097400-129112400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:129097600-129112600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:129098000-129106800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:129098200-129119600	Weak transcription	Fetal Lung	lung
31	chr4:129098400-129124000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:129098400-129141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:129098600-129107800	Weak transcription	Lung	lung
34	chr4:129098600-129112400	Weak transcription	HSMM	muscle
35	chr4:129098800-129122400	Weak transcription	HUVEC	blood vessel
36	chr4:129099000-129112400	Weak transcription	K562	blood
37	chr4:129099000-129112400	Weak transcription	Osteobl	bone
38	chr4:129099000-129125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:129099400-129108000	Weak transcription	Ovary	ovary
40	chr4:129100200-129107800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:129100200-129129400	Weak transcription	HepG2	liver
42	chr4:129101000-129107600	Weak transcription	Fetal Thymus	thymus
43	chr4:129101200-129107800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:129101600-129105800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:129102800-129107800	Weak transcription	Liver	Liver
46	chr4:129102800-129121000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:129103400-129106400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:129103600-129106200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:129103600-129111600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:129103600-129129800	Weak transcription	Placenta Amnion	Placenta Amnion

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