Variant report

Variant	rs72616969
Chromosome Location	chr4:128845246-128845247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10493148	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11940642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11942726	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11944947	0.82[EUR][1000 genomes]
rs16997978	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012683	0.84[ASN][1000 genomes]
rs17012687	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17012695	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17012703	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17012708	0.84[ASN][1000 genomes]
rs17012710	0.84[ASN][1000 genomes]
rs17012727	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012743	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012747	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012750	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17012836	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17012841	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17012856	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17012870	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1841156	0.83[ASN][1000 genomes]
rs1841157	0.83[ASN][1000 genomes]
rs2007733	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2015987	0.82[EUR][1000 genomes]
rs2276898	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2276899	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2276900	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35763794	0.83[ASN][1000 genomes]
rs3733319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4422427	0.86[ASN][1000 genomes]
rs4426798	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4431238	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4456965	0.84[ASN][1000 genomes]
rs4470641	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4508904	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4513584	0.86[ASN][1000 genomes]
rs4535346	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4607232	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4618331	0.86[ASN][1000 genomes]
rs5011745	0.91[AMR][1000 genomes]
rs56250604	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56699332	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56893530	0.86[ASN][1000 genomes]
rs57257129	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57431280	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57487637	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57499646	0.85[ASN][1000 genomes]
rs57561160	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57645489	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57872423	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58225850	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58546713	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58569950	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58830700	0.89[ASN][1000 genomes]
rs59117993	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59189441	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59569890	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59815828	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59984114	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60279389	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60505265	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60665827	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60930401	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60979346	0.90[EUR][1000 genomes]
rs61027047	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61300521	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6817374	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6822340	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6840241	0.90[EUR][1000 genomes]
rs6850549	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6850726	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72616953	0.83[ASN][1000 genomes]
rs72616954	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72616956	0.86[ASN][1000 genomes]
rs72616957	0.86[ASN][1000 genomes]
rs72616958	0.86[ASN][1000 genomes]
rs72616959	0.86[ASN][1000 genomes]
rs72616960	0.86[ASN][1000 genomes]
rs72616961	0.86[ASN][1000 genomes]
rs72616962	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72616963	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72616964	0.81[ASN][1000 genomes]
rs72616965	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616966	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72616967	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72616968	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72616970	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72616971	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72616972	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72616973	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72616974	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72616975	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72616976	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616977	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72616978	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72618806	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72618807	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618808	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618809	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618810	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618811	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618812	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618813	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618814	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72618815	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72618816	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618817	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72618818	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618819	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618820	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618821	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618822	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618823	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618824	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618825	0.90[EUR][1000 genomes]
rs72618826	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618827	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72618828	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618829	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72618830	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72618831	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72618832	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72618833	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72618834	0.90[EUR][1000 genomes]
rs72618835	0.90[EUR][1000 genomes]
rs7684815	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	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
7	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
8	esv1793579	chr4:128577439-128871309	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv1019193	chr4:128810527-128949320	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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	29 gene(s)	inside rSNPs	diseases
15	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128817400-128849400	Weak transcription	Osteobl	bone
2	chr4:128818800-128863000	Weak transcription	A549	lung
3	chr4:128831200-128884600	Weak transcription	Spleen	Spleen
4	chr4:128832600-128885200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:128833400-128858000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:128833600-128867600	Weak transcription	NHLF	lung
7	chr4:128835000-128885200	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:128836000-128864000	Weak transcription	Small Intestine	intestine
9	chr4:128836200-128847000	Weak transcription	Lung	lung
10	chr4:128836200-128847200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:128836400-128850600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:128836400-128863000	Weak transcription	Fetal Kidney	kidney
13	chr4:128836800-128884600	Weak transcription	Esophagus	oesophagus
14	chr4:128836800-128885200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:128837000-128868600	Weak transcription	Pancreas	Pancrea
16	chr4:128837000-128885800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:128837400-128885800	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:128837600-128861800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:128837800-128885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:128838000-128865400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:128838000-128866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:128838200-128847200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:128838200-128847200	Weak transcription	Fetal Stomach	stomach
24	chr4:128838400-128885200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:128838400-128885800	Weak transcription	Brain Angular Gyrus	brain
26	chr4:128838800-128862600	Weak transcription	HSMMtube	muscle
27	chr4:128838800-128885200	Weak transcription	Right Ventricle	heart
28	chr4:128839000-128854800	Weak transcription	Fetal Heart	heart
29	chr4:128839800-128861800	Weak transcription	HMEC	breast
30	chr4:128840000-128885800	Weak transcription	Aorta	Aorta
31	chr4:128840400-128847800	Weak transcription	Ovary	ovary
32	chr4:128840600-128885200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:128840800-128885200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:128841600-128885200	Weak transcription	Hela-S3	cervix
35	chr4:128841800-128885200	Weak transcription	Gastric	stomach
36	chr4:128842000-128852600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:128842000-128862000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:128842000-128862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:128842400-128863000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:128842400-128881200	Weak transcription	Colonic Mucosa	Colon
41	chr4:128842600-128848400	Weak transcription	Thymus	Thymus
42	chr4:128842600-128858000	Weak transcription	NHDF-Ad	bronchial
43	chr4:128842600-128879200	Weak transcription	K562	blood
44	chr4:128842800-128847400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:128842800-128849000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:128842800-128850000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:128842800-128858200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:128842800-128862200	Weak transcription	Fetal Brain Female	brain
49	chr4:128842800-128885400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr4:128842800-128885600	Weak transcription	Psoas Muscle	Psoas

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