Variant report

Variant	rs62272804
Chromosome Location	chr3:160268021-160268022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10513550	0.83[ASN][1000 genomes]
rs2305401	1.00[ASN][1000 genomes]
rs2305406	0.83[ASN][1000 genomes]
rs33999879	0.83[ASN][1000 genomes]
rs3736627	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773371	0.83[ASN][1000 genomes]
rs3806629	1.00[ASN][1000 genomes]
rs41272959	0.83[ASN][1000 genomes]
rs56124988	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56150006	0.83[ASN][1000 genomes]
rs56343019	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56396435	1.00[ASN][1000 genomes]
rs57030267	0.83[ASN][1000 genomes]
rs57050097	0.95[ASN][1000 genomes]
rs57277659	0.86[ASN][1000 genomes]
rs57285344	0.83[ASN][1000 genomes]
rs57328745	1.00[ASN][1000 genomes]
rs57555307	1.00[ASN][1000 genomes]
rs58377812	0.91[ASN][1000 genomes]
rs58654032	0.83[ASN][1000 genomes]
rs58915028	0.83[ASN][1000 genomes]
rs59695030	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59799252	0.83[ASN][1000 genomes]
rs60066272	1.00[ASN][1000 genomes]
rs60153357	0.83[ASN][1000 genomes]
rs60517889	0.95[ASN][1000 genomes]
rs60914777	0.83[ASN][1000 genomes]
rs61066536	0.83[ASN][1000 genomes]
rs62272179	0.83[ASN][1000 genomes]
rs62272185	0.83[ASN][1000 genomes]
rs62272187	0.83[ASN][1000 genomes]
rs62272188	0.83[ASN][1000 genomes]
rs62272190	0.83[ASN][1000 genomes]
rs62272191	0.83[ASN][1000 genomes]
rs62272193	0.83[ASN][1000 genomes]
rs62272196	0.83[ASN][1000 genomes]
rs62272197	0.83[ASN][1000 genomes]
rs62272198	0.83[ASN][1000 genomes]
rs62272231	0.83[ASN][1000 genomes]
rs62272236	0.83[ASN][1000 genomes]
rs62272237	0.83[ASN][1000 genomes]
rs62272245	0.83[ASN][1000 genomes]
rs62272247	0.83[ASN][1000 genomes]
rs62272249	0.86[ASN][1000 genomes]
rs62272251	0.86[ASN][1000 genomes]
rs62272254	0.95[ASN][1000 genomes]
rs62272255	0.95[ASN][1000 genomes]
rs62272256	0.95[ASN][1000 genomes]
rs62272257	0.95[ASN][1000 genomes]
rs62272258	0.95[ASN][1000 genomes]
rs62272259	0.95[ASN][1000 genomes]
rs62272780	1.00[ASN][1000 genomes]
rs62272781	1.00[ASN][1000 genomes]
rs62272783	1.00[ASN][1000 genomes]
rs62272785	1.00[ASN][1000 genomes]
rs62272787	1.00[ASN][1000 genomes]
rs62272788	1.00[ASN][1000 genomes]
rs62272790	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272793	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62272799	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62272805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272806	1.00[ASN][1000 genomes]
rs62272831	1.00[ASN][1000 genomes]
rs62272833	1.00[ASN][1000 genomes]
rs62272836	1.00[ASN][1000 genomes]
rs62272838	1.00[ASN][1000 genomes]
rs66769612	0.83[ASN][1000 genomes]
rs66850724	0.83[ASN][1000 genomes]
rs67403526	0.95[ASN][1000 genomes]
rs68069205	0.83[ASN][1000 genomes]
rs73154587	0.83[ASN][1000 genomes]
rs73155914	1.00[ASN][1000 genomes]
rs7648832	0.95[ASN][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	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
7	nsv877701	chr3:160228001-160283815	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
8	nsv877702	chr3:160262803-160304614	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160234600-160281000	Weak transcription	Aorta	Aorta
2	chr3:160240200-160280400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:160244200-160272200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:160246600-160279200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:160247000-160270400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:160247000-160281000	Weak transcription	Thymus	Thymus
7	chr3:160248800-160268600	Weak transcription	NHLF	lung
8	chr3:160249200-160279000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:160250400-160271600	Weak transcription	HepG2	liver
10	chr3:160251200-160282000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:160252800-160272600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:160253000-160272000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:160254000-160272600	Weak transcription	Hela-S3	cervix
14	chr3:160254000-160279800	Weak transcription	Placenta	Placenta
15	chr3:160254200-160278800	Weak transcription	HMEC	breast
16	chr3:160258600-160273800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:160258800-160279000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:160259000-160269200	Weak transcription	NH-A	brain
19	chr3:160259200-160277000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:160259800-160272600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:160260200-160268200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:160260200-160271400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:160260200-160279600	Weak transcription	Osteobl	bone
24	chr3:160260400-160268400	Weak transcription	NHDF-Ad	bronchial
25	chr3:160260600-160271000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:160261000-160271400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:160261800-160281000	Weak transcription	Ovary	ovary
28	chr3:160262000-160272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:160262600-160277800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:160263200-160268400	Weak transcription	Fetal Kidney	kidney
31	chr3:160263600-160270400	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:160263600-160271000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:160263600-160271400	Weak transcription	Adipose Nuclei	Adipose
34	chr3:160264000-160272000	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:160264000-160272600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:160264200-160272200	Weak transcription	Right Atrium	heart
37	chr3:160264200-160282000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:160264400-160270400	Weak transcription	Psoas Muscle	Psoas
39	chr3:160264400-160270400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:160264800-160271000	Weak transcription	Gastric	stomach
41	chr3:160265200-160276800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:160265400-160268400	Weak transcription	K562	blood
43	chr3:160265800-160268200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:160265800-160272400	Weak transcription	Small Intestine	intestine
45	chr3:160266000-160271600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:160266000-160271600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:160266000-160272200	Weak transcription	Right Ventricle	heart
48	chr3:160266000-160272800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:160266200-160271000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:160266400-160269800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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